2015-07-01 2016-09-01 v.1.0 v.1.0 GGDonto - Ontology of Genetic Diseases known to be related to Glycan Metabolism Genetic Glyco-Diseases Ontology (GGDonto) GGDonto is the Ontology of Genetic Diseases related to Glycan Metabolism, which describes knowledge about Congenital Disorders of Glycosylation (CDG) and Lysosomal Storage Diseases (LSD). GGDonto provides information on 120 genetic diseases of glycan synthesis and degradation and their causative genes. Glycoscience and Glycotechnology Research Group, Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST) Glycoscience and Glycotechnology Research Group, Biotechnology Research Institute for Drug Discovery, National Institute of Advanced Industrial Science and Technology (AIST) Hisashi Narimatsu Toshihide Shikanai Elena Solovieva Noriaki Fujita CON00432 CON00432 Linkage glycan defects Linkage glycan defects Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. CON00433 CON00433 Impaired heparan sulfate synthesis Impaired heparan sulfate synthesis Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. CON00621 CON00621 ALG11-CDG ALG11-CDG CDG-Ip Congenital Disorder of Glycosylation, Type Ip ALG11 C3150913 613661 613666 ALG11 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip CDG1P Congenital disorder of glycosylation type 1P Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00623 CON00623 DDOST-CDG DDOST-CDG CDG-Ir Congenital Disorder of Glycosylation, Type Ir C3281084 614507 602202 DDOST CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir CDG1R Congenital disorder of glycosylation type 1R Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21(19):4151-4161. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. CON00624 CON00624 ALG13-CDG ALG13-CDG CDG-Is Congenital Disorder of Glycosylation, Type Is GLT28D1 C3550904 300884 300776 ALG13 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is CDG1S CDG Is CDGIs Congenital disorder of glycosylation type 1S Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21(19):4151-4161. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. CON00626 CON00626 TMEM165-CDG TMEM165-CDG CDG-IIk Congenital Disorder of Glycosylation, Type IIk C3553571 614727 614726 TMEM165 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk CDG2K CDG IIk CDGIIk Congenital disorder of glycosylation type 2K Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. CON00627 CON00627 COG6-CDG COG6-CDG CDG-IIL Congenital Disorder of Glycosylation, Type IIL C3553230 614576 606977 COG6 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL CDG2L CDG IIL CDGIIL Congenital disorder of glycosylation type 2L Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. CON00628 CON00628 Myasthenia, congenital, with tubular aggregates 1 Myasthenia, congenital, with tubular aggregates 1 CMSTA1 C3552335 610542 138292 GFPT1 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1 CMSTA1 Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00629 CON00629 Mental retardation, autosomal recessive 15 Mental retardation, autosomal recessive 15 MRT15 C3280127 614202 604346 MAN1B1 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 MRT15 Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00631 CON00631 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 C3278404 245600 606374 B3GAT3 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00635 CON00635 Hyperphosphatasia with mental retardation syndrome 1 Hyperphosphatasia with mental retardation syndrome 1 HPMRS1 C1855923 239300 610274 PIGV HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 HPMRS1 MABRY SYNDROME Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00636 CON00636 Multiple congenital anomalies-hypotonia-seizures syndrome 1 Multiple congenital anomalies-hypotonia-seizures syndrome 1 MCAHS1 C3279775 614080 606097 PIGN MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 MCAHS1 Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00637 CON00637 Defects in nucleotide-sugar biosynthesis Defects in nucleotide-sugar biosynthesis Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. CON00638 CON00638 Defects in lipid-linked oligosaccharide biosynthesis Defects in lipid-linked oligosaccharide biosynthesis Defects in dolichol-linked oligosaccharide biosynthesis Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. CON00639 CON00639 Defects in N-glycosylation Defects in N-glycosylation Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00640 CON00640 Defects in oligosaccharyltransferase subunits Defects in oligosaccharyltransferase subunits Defects in subunits of oligosaccharyltransferase (OST) complex Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00641 CON00641 Defects in N-glycan trimming Defects in N-glycan trimming Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00642 CON00642 Defect in N-glycan branching Defect in N-glycan branching Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00643 CON00643 Defects in nucleotide-sugar transport Defects in nucleotide-sugar transport Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00644 CON00644 Defects in vesicular transport Defects in vesicular transport Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00645 CON00645 Defect in GAG core biosynthesis Defect in GAG core biosynthesis Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00646 CON00646 Defect in GAG chain polymerization Defect in GAG chain polymerization Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00001 CON00001 Genetic disorders of glycan degradation Genetic disorders of glycan degradation Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Levy PA (2009) Inborn errors of metabolism: part 2: specific disorders. Pediatr Rev 30(4):e22-e28. Pastores GM (2010) Therapeutic approaches for lysosomal storage diseases. Ther Adv Endocrinol Metab 1(4):177-188. CON00013 CON00013 Sialidosis type I Sialidosis type I Cherry-red spot myoclonus syndrome Normosomatic sialidosis C2673311 256550 608272 NEU1 CON00014 CON00014 Sialidosis type II Sialidosis type II Neuraminidase 1 deficiency Dysmorphic sialidosis C0268228 256550 608272 NEU1 CON00015 CON00015 Sialidosis type II, congenital form Sialidosis type II, congenital form C0268231 256550 608272 NEU1 CON00016 CON00016 Sialidosis type II, infantile form Sialidosis type II, infantile form C0268230 256550 608272 NEU1 CON00017 CON00017 Sialidosis type II, juvenile form Sialidosis type II, juvenile form C0268229 256550 608272 NEU1 CON00003 CON00003 Disorders of glycoprotein metabolism Disorders of glycoprotein metabolism Defects in glycoprotein metabolism C0342844 ICD-10-CM E77 CON00004 CON00004 Defects in glycoprotein degradation Defects in glycoprotein degradation Oligosaccharidoses C0494342 ICD-10-CM E77.1 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation. CON00005 CON00005 Aspartylglucosaminuria Aspartylglucosaminuria 79 C0268225 ICD-10-CM E77.1 208400 613228 AGA アスパルチルグルコサミン尿症 ASPARTYLGLUCOSAMINURIA AGU GLYCOSYLASPARAGINASE DEFICIENCY ASPARTYLGLUCOSAMINIDASE DEFICIENCY AGA DEFICIENCY GLYCOASPARAGINASE ASPARTYLGLYCOSAMINURIA Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation. CON00609 CON00609 Wounds and Injuries Wounds and Injuries C0043251 MeSH D014947 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00610 CON00610 Arrhythmias, Cardiac Arrhythmias, Cardiac Cardiac Arrhythmia C0003811 MeSH D001145 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00584 CON00584 Psychomotor Disorders Psychomotor Disorders C0033922 MeSH D011596 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00585 CON00585 Puberty, Delayed Puberty, Delayed C0034012 MeSH D011628 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00586 CON00586 Reflex, Abnormal Reflex, Abnormal C0034933 MeSH D012021 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00587 CON00587 Refractive Errors Refractive Errors C0034951 MeSH D012030 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00588 CON00588 Reticulocytosis Reticulocytosis C0206160 MeSH D045262 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00589 CON00589 Retinal Detachment Retinal Detachment C0035305 MeSH D012163 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00002 CON00002 Genetic disorders of glycan degradation (by systems, signs and symptoms) Genetic disorders of glycan degradation (by systems, signs and symptoms) Lysosomal storage diseases Lysosomal Enzyme Disorders C0085078 MeSH D016464 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00620 CON00620 DPM3-CDG DPM3-CDG CDG-Io Congenital Disorder of Glycosylation, Type Io DPM3 C2752007 MeSH (SCR) C567857 612937 605951 DPM3 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io CDG1O CDG Io CDGIo CDG1(DPM3) Congenital disorder of glycosylation type 1O Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. CON00622 CON00622 SRD5A3-CDG SRD5A3-CDG CDG-Iq Congenital Disorder of Glycosylation, Type Iq Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities C3150191 MeSH (SCR) C567328 612379 611715 SRD5A3 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq CDG1Q COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES CDG Iq CDGIq Congenital disorder of glycosylation type 1Q Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00630 CON00630 Mental retardation, autosomal recessive 12 Mental retardation, autosomal recessive 12 MRT12 ST3GAL3 C1970200 MeSH (SCR) C567019 611090 606494 ST3GAL3 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 MRT12 Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00632 CON00632 Temtamy preaxial brachydactyly syndrome Temtamy preaxial brachydactyly syndrome TPBS CHSY1 C1854466 MeSH (SCR) C536958 605282 608183 CHSY1 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME TPBS PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00633 CON00633 Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type CHST3 C1837657 MeSH (SCR) C535789 143095 603799 CHST3 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS HUMEROSPINAL DYSOSTOSIS HSD SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CDMD Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00634 CON00634 Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type Adducted thumb and clubfoot syndrome D4ST1 C1866294 MeSH (SCR) C538226 601776 608429 CHST14 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE EDSMC EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY EDS6B, FORMERLY ADDUCTED THUMB-CLUBFOOT SYNDROME ATCS DUNDAR SYNDROME ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. CON00590 CON00590 Retinal Dysplasia Retinal Dysplasia C0035313 MeSH D015792 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00591 CON00591 Retinal Dystrophies Retinal Dystrophies C0854723 MeSH D058499 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00592 CON00592 Retinitis Pigmentosa Retinitis Pigmentosa C0035334 MeSH D012174 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00593 CON00593 Rupture, Spontaneous Rupture, Spontaneous C0035956 MeSH D012422 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00594 CON00594 Scoliosis Scoliosis C0036439 MeSH D012600 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00595 CON00595 Sepsis Sepsis C0243026 MeSH D018805 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00596 CON00596 Spasms, Infantile Spasms, Infantile C0037769 MeSH D013036 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00597 CON00597 Spondylosis Spondylosis C0038019 MeSH D055009 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00598 CON00598 Status Epilepticus Status Epilepticus C0038220 MeSH D013226 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00599 CON00599 Strabismus Strabismus C0038379 MeSH D013285 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00600 CON00600 Thrombosis Thrombosis C0040053 MeSH D013927 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00601 CON00601 Thyroid Diseases Thyroid Diseases C0040128 MeSH D013959 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00602 CON00602 Tooth Abnormalities Tooth Abnormalities C0040427 MeSH D014071 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00603 CON00603 Upper Extremity Deformities, Congenital Upper Extremity Deformities, Congenital C0749794 MeSH D038062 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00604 CON00604 Urogenital Abnormalities Urogenital Abnormalities C0042063 MeSH D014564 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00605 CON00605 Vascular Calcification Vascular Calcification C0342649 MeSH D061205 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00606 CON00606 Venous Thrombosis Venous Thrombosis C0042487 MeSH D020246 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00607 CON00607 Virilism Virilism C0042755 MeSH D014770 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00608 CON00608 Nutritional and Metabolic Diseases Nutritional and Metabolic Diseases C0028715 MeSH D009750 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00611 CON00611 Anemia, Hemolytic, Congenital Anemia, Hemolytic, Congenital C0002881 MeSH D000745 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00613 CON00613 Craniofacial Dysostosis Craniofacial Dysostosis C0010273 MeSH D003394 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00614 CON00614 Quadriplegia Quadriplegia Tetraplegia C0034372 MeSH D011782 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00615 CON00615 Systemic Inflammatory Response Syndrome Systemic Inflammatory Response Syndrome C0242966 MeSH D018746 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00616 CON00616 Respiratory Hypersensitivity Respiratory Hypersensitivity C0035228 MeSH D012130 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00617 CON00617 Asthma Asthma Bronchial Asthma C0004096 MeSH D001249 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00618 CON00618 Dermatitis, Exfoliative Dermatitis, Exfoliative Erythroderma C0011606 MeSH D003873 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00619 CON00619 Skin Diseases, Genetic Skin Diseases, Genetic C0037277 MeSH D012873 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00647 CON00647 Hyperkinesis Hyperkinesis C0424295 MeSH D006948 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00648 CON00648 Digestive System Abnormalities Digestive System Abnormalities C0266015 MeSH D004065 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00649 CON00649 Anus, Imperforate Anus, Imperforate C0003466 MeSH D001006 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00650 CON00650 Hypertrichosis Hypertrichosis C0020555 MeSH D006983 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00651 CON00651 Retrognathia Retrognathia C3494422 MeSH D063173 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00652 CON00652 Pierre Robin Syndrome Pierre Robin Syndrome C0031900 MeSH D010855 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00653 CON00653 Obesity Obesity C0028754 MeSH D009765 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00654 CON00654 Nutrition Disorders Nutrition Disorders C0028709 MeSH D044342 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00655 CON00655 Overnutrition Overnutrition C1257763 MeSH D044343 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00008 CON00008 Alpha-mannosidosis Alpha-mannosidosis Alpha-mannosidase B deficiency 117 C0024748 MeSH D008363 248500 609458 MAN2B1 α-マンノシドーシス MANNOSIDOSIS, ALPHA B, LYSOSOMAL MANSA ALPHA-MANNOSIDOSIS LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY ALPHA-MANNOSIDASE B DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation. CON00009 CON00009 Alpha-mannosidosis, type I (early-onset) Alpha-mannosidosis, type I (early-onset) C0024748 MeSH D008363 248500 609458 MAN2B1 CON00010 CON00010 Alpha-mannosidosis, type II (later-onset) Alpha-mannosidosis, type II (later-onset) C0024748 MeSH D008363 248500 609458 MAN2B1 CON00625 CON00625 PGM1-CDG PGM1-CDG CDG-It Congenital Disorder of Glycosylation, Type It C3554056 MeSH (SCR) C567859 614921 171900 PGM1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It CDG1T CDG It CDGIt Congenital disorder of glycosylation type 1T Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21(19):4151-4161. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. CON00011 CON00011 Beta-mannosidosis Beta-mannosidosis Beta-mannosidase deficiency 77 C0342849 MeSH (SCR) C538599 248510 609489 MANBA β-マンノシドーシス MANNOSIDOSIS, BETA A, LYSOSOMAL MANSB BETA-MANNOSIDOSIS LYSOSOMAL BETA-MANNOSIDASE DEFICIENCY BETA-MANNOSIDASE DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation. CON00020 CON00020 Schindler disease, type I Schindler disease, type I infantile type 80 C1836544 MeSH (SCR) C536631 609241 104170 NAGA シンドラー病 SCHINDLER DISEASE, TYPE I Schindler病 NEUROAXONAL DYSTROPHY, SCHINDLER TYPE ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I NAGA DEFICIENCY, TYPE I ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED NAGA DEFICIENCY, TYPE III, INCLUDED SCHINDLER DISEASE, TYPE III, INCLUDED CON00021 CON00021 Schindler disease, type II Schindler disease, type II Kanzaki disease 81 C1836522 MeSH (SCR) C536631 609242 104170 NAGA 神崎病 KANZAKI DISEASE ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, ADULT-ONSET NAGA DEFICIENCY, TYPE II SCHINDLER DISEASE, TYPE II CON00023 CON00023 Galactosialidosis Galactosialidosis Combined deficiency of sialidase AND beta galactosidase 114 C0268233 MeSH (SCR) C536411 256540 613111 CTSA ガラクトシアリドーシス GALACTOSIALIDOSIS GSL β-ガラクトシダーゼ-ノイラミダーゼ欠損症 ゴールドバーグ症候群 GOLDBERG SYNDROME NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION NGBE LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY CATHEPSIN A DEFICIENCY PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY PPCA DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation. CON00019 CON00019 Schindler disease Schindler disease Alpha-N-acetylgalactosaminidase deficiency C0342850 MeSH (SCR) C536631 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation. CON00044 CON00044 Maroteaux-Lamy syndrome, intermediate form Maroteaux-Lamy syndrome, intermediate form C0268217 253200 611542 ARSB CON00328 CON00328 Multiple Types Diseases Multiple Types Diseases TOP level concept for Multiple Types Diseases ontology CON00047 CON00047 Sphingolipidosis Sphingolipidosis C0037899 MeSH D013106 CON00048 CON00048 Gangliosidosis Gangliosidosis Gangliosidoses Ganglioside Storage Diseases C0017083 MeSH D005733 CON00050 CON00050 GM1 gangliosidosis GM1 gangliosidosis C0085131 MeSH D016537 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. CON00051 CON00051 GM1-gangliosidosis, type I GM1-gangliosidosis, type I infantile form 53 C0268271 MeSH D016537 230500 611458 GLB1 GM1-ガングリオシドーシス1型 GM1-GANGLIOSIDOSIS, TYPE I 1型GM1ガングリオシドーシス GM1ガングリオシドβガラクトシダーゼ欠損症1 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 BETA-GALACTOSIDASE-1 DEFICIENCY GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00053 CON00053 GM1-gangliosidosis, type III GM1-gangliosidosis, type III adult form 55 C0268273 MeSH D016537 230650 611458 GLB1 GM1-ガングリオシドーシス3型 GM1-GANGLIOSIDOSIS, TYPE III 3型GM1ガングリオシドーシス GM1ガングリオシドβガラクトシダーゼ欠損症3 GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3 Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00054 CON00054 GM2 gangliosidosis GM2 gangliosidosis C0268274 MeSH D020143 CON00055 CON00055 Tay-Sachs disease Tay-Sachs disease GM2-gangliosidosis, type I Hexosaminidase A deficiency GM2-Gangliosidosis, B variant 57 C0039373 MeSH D013661 272800 606869 HEXA GM2ガングリオシドーシスB異型 TAY-SACHS DISEASE TSD テイサックス病 テイ・サックス病 テイ-サックス病 テイザックス病 テイ・ザックス病 テイ-ザックス病 ヘキソミダーゼαサブユニット欠損症 GM2-GANGLIOSIDOSIS, TYPE I B VARIANT GM2-GANGLIOSIDOSIS HEXOSAMINIDASE A DEFICIENCY HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE, INCLUDED HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED GM2-GANGLIOSIDOSIS, VARIANT B1, INCLUDED TAY-SACHS DISEASE, VARIANT B1, INCLUDED TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00058 CON00058 Sandhoff disease Sandhoff disease GM2-gangliosidosis, type II 58 C0036161 MeSH D012497 268800 606873 HEXB GM2ガングリオシドーシスO型 SANDHOFF DISEASE サンドホフ病 GM2-GANGLIOSIDOSIS, TYPE II HEXOSAMINIDASES A AND B DEFICIENCY SANDHOFF DISEASE, ADULT TYPE, INCLUDED SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00059 CON00059 Sandhoff disease, infantile form Sandhoff disease, infantile form C0751490 MeSH D012497 268800 606873 HEXB Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00060 CON00060 Sandhoff disease, juvenile form Sandhoff disease, juvenile form C0751491 MeSH D012497 268800 606873 HEXB CON00061 CON00061 Sandhoff disease, adult form Sandhoff disease, adult form C0751489 MeSH D012497 268800 606873 HEXB CON00062 CON00062 GM2-gangliosidosis, AB variant GM2-gangliosidosis, AB variant Tay-Sachs disease, AB variant GM2 activator deficiency 56 C0268275 MeSH D049290 272750 613109 GM2A GM2ガングリオシドーシスAB異型 GM2-GANGLIOSIDOSIS, AB VARIANT GM2 活性化蛋白質欠損症 GM2 activator欠損症 HEXOSAMINIDASE ACTIVATOR DEFICIENCY GM2 ACTIVATOR DEFICIENCY AB VARIANT GM2-GANGLIOSIDOSIS TAY-SACHS DISEASE, AB VARIANT CON00064 CON00064 Fabry disease Fabry disease Alpha-galactosidase A deficiency 59 C0002986 MeSH D000795 301500 300644 GLA ファブリー病 FABRY DISEASE Fabry病 α-ガラクトシダーゼ欠損症 アンダーソン・ファブリー病 びまん性体幹被角血管腫 ANGIOKERATOMA CORPORIS DIFFUSUM ANDERSON-FABRY DISEASE HEREDITARY DYSTOPIC LIPIDOSIS ALPHA-GALACTOSIDASE A DEFICIENCY GLA DEFICIENCY CERAMIDE TRIHEXOSIDASE DEFICIENCY FABRY DISEASE, CARDIAC VARIANT, INCLUDED Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. CON00065 CON00065 Gaucher disease Gaucher disease C0017205 MeSH D005776 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. CON00066 CON00066 Gaucher disease, type I Gaucher disease, type I non-neuronopathic form 63 C1961835 MeSH D005776 230800 606463 GBA ゴーシェ病I型 GAUCHER DISEASE, TYPE I ゴーシェ病1型 1型ゴーシェ病 1型Gaucher病 GD I GAUCHER DISEASE, NONCEREBRAL JUVENILE GLUCOCEREBROSIDASE DEFICIENCY ACID BETA-GLUCOSIDASE DEFICIENCY GBA DEFICIENCY CON00068 CON00068 Gaucher disease, type II, neuronopathic form, classic type Gaucher disease, type II, neuronopathic form, classic type C0268250 MeSH D005776 230900 606463 GBA ゴーシェ病II型 GAUCHER DISEASE, TYPE II ゴーシェ病2型 2型ゴーシェ病 2型Gaucher病 GD II GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE CON00112 CON00112 Anxiety, Separation Anxiety, Separation C1527281 MeSH D001010 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00070 CON00070 Gaucher disease, type III Gaucher disease, type III neuronopathic form 65 C0268251 MeSH D005776 231000 606463 GBA ゴーシェ病III型 GAUCHER DISEASE, TYPE III ゴーシェ病3型 3型ゴーシェ病 3型Gaucher病 GD III GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL GAUCHER DISEASE, TYPE IIIA, INCLUDED GAUCHER DISEASE, TYPE IIIB, INCLUDED GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED CON00113 CON00113 Apnea Apnea C0003578 MeSH D001049 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00114 CON00114 Arthritis Arthritis C0003864 MeSH D001168 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00073 CON00073 Krabbe disease Krabbe disease Globoid cell leukodystrophy Leukodystrophy, globoid cell Krabbe leukodystrophy Galactosylceramide beta-galactosidase deficiency 62 C0023521 MeSH D007965 245200 606890 GALC クラッベ病 KRABBE DISEASE グロボイド細胞性脳白質異栄養症 GLOBOID CELL LEUKODYSTROPHY GLD GCL GLOBOID CELL LEUKOENCEPHALOPATHY GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY GALACTOCEREBROSIDASE DEFICIENCY GALC DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00074 CON00074 Krabbe disease, infantile form Krabbe disease, infantile form C0751273 MeSH D007965 245200 606890 GALC CON00115 CON00115 Ataxia Ataxia C0004134 MeSH D001259 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00077 CON00077 Sulfatidosis Sulfatidosis C1706192 MeSH D052516 CON00078 CON00078 Multiple sulfatase deficiency Multiple sulfatase deficiency MSD Multiple sulfatase deficiency disease 98 C0268263 MeSH D052517 272200 607939 SUMF1 多種スルファターゼ欠損症 MULTIPLE SULFATASE DEFICIENCY MSD 多種サルファターゼ欠損症 サルファティドーシス MUCOSULFATIDOSIS SULFATIDOSIS, JUVENILE, AUSTIN TYPE Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. CON00079 CON00079 Metachromatic leukodystrophy Metachromatic leukodystrophy C0023522 MeSH D007966 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. CON00081 CON00081 Metachromatic leukodystrophy, infantile form Metachromatic leukodystrophy, infantile form C0751278 MeSH D007966 250100 607574 ARSA CON00082 CON00082 Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, juvenile form C0751276 MeSH D007966 250100 607574 ARSA CON00083 CON00083 Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, adult form C0751279 MeSH D007966 250100 607574 ARSA CON00116 CON00116 Behavior Behavior C0004927 MeSH D001519 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00085 CON00085 Niemann-Pick disease Niemann-Pick disease C0028064 MeSH D009542 CON00086 CON00086 Niemann-Pick disease, type A Niemann-Pick disease, type A neurological type 68 C0268242 MeSH D052536 257200 607608 SMPD1 ニーマン・ピック病A型 NIEMANN-PICK DISEASE, TYPE A Niemann-Pick病A型 A型ニーマン・ピック病 A型Niemann-Pick病 酸性スフィンゴミエリナーゼ欠損症 SPHINGOMYELIN LIPIDOSIS SPHINGOMYELINASE DEFICIENCY NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED CON00087 CON00087 Niemann-Pick disease, type B Niemann-Pick disease, type B non-neurological type 69 C0268243 MeSH D052537 607616 607608 SMPD1 ニーマン・ピック病B型 NIEMANN-PICK DISEASE, TYPE B 酸性スフィンゴミエリナーゼ欠損症 Niemann-Pick病B型 B型ニーマン・ピック病 B型Niemann-Pick病 NIEMANN-PICK DISEASE, TYPE E, INCLUDED NIEMANN-PICK DISEASE, TYPE F, INCLUDED NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION, INCLUDED CON00088 CON00088 Niemann-Pick disease, type C Niemann-Pick disease, type C C0220756 MeSH D052556 CON00089 CON00089 Niemann-Pick disease, type C1 Niemann-Pick disease, type C1 Niemann-Pick disease, type D, included 70 C3179455 MeSH D052556 257220 607623 NPC1 ニーマン・ピック病C1型 NIEMANN-PICK DISEASE, TYPE C1 NPC1 Niemann-Pick病C1型 C1型ニーマン・ピック病 C1型Niemann-Pick病 NIEMANN-PICK DISEASE, TYPE C NPC NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D, INCLUDED NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE, INCLUDED CON00091 CON00091 Farber Lipogranulomatosis Farber Lipogranulomatosis Acid Ceramidase Deficiency 72 C0268255 MeSH D055577 228000 613468 ASAH1 ファーバー病 FARBER LIPOGRANULOMATOSIS ファーバー症候群 セラミダーゼ欠損症 FARBER DISEASE CERAMIDASE DEFICIENCY ACID CERAMIDASE DEFICIENCY AC DEFICIENCY N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY CON00118 CON00118 Behavioral Symptoms Behavioral Symptoms C0004941 MeSH D001526 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00100 CON00100 Wolman disease Wolman disease Acid lipase deficiency Lysosomal acid lipase deficiency 73 C0043208 MeSH D015223 278000 613497 LIPA ウォルマン病 LYSOSOMAL ACID LIPASE DEFICIENCY Wolman病 コレステリルエステルおよびトリグリセリド蓄積症 CHOLESTERYL ESTER STORAGE DISEASE CESD LIPA DEFICIENCY LAL DEFICIENCY CHOLESTEROL ESTER HYDROLASE DEFICIENCY WOLMAN DISEASE, INCLUDED CON00102 CON00102 Glycogen storage diseases Glycogen storage diseases GSD C0017919 MeSH D006008 U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00103 CON00103 Pompe disease Pompe disease GSD type II Lysosomal alpha 1,4 Glucosidase Deficiency Disease 74 C0017921 MeSH D006009 232300 606800 GAA 糖原病II型 GLYCOGEN STORAGE DISEASE II Pompe病 GSD II GSD2 ACID ALPHA-GLUCOSIDASE DEFICIENCY GAA DEFICIENCY POMPE DISEASE GLYCOGENOSIS, GENERALIZED, CARDIAC FORM CARDIOMEGALIA GLYCOGENICA DIFFUSA ACID MALTASE DEFICIENCY AMD ALPHA-1,4-GLUCOSIDASE DEFICIENCY CON00105 CON00105 Pompe disease, late-onset form Pompe disease, late-onset form C0017921 MeSH D006009 232300 606800 GAA CON00104 CON00104 Pompe disease, infantile-onset form Pompe disease, infantile-onset form C0342751 MeSH D006009 232300 606800 GAA CON00107 CON00107 Lysosomal Storage Diseases, Nervous System Lysosomal Storage Diseases, Nervous System C0751738 MeSH D020140 CON00117 CON00117 Behavior and Behavior Mechanisms Behavior and Behavior Mechanisms C0004928 MeSH D001520 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00069 CON00069 Gaucher disease, type II, perinatal lethal form Gaucher disease, type II, perinatal lethal form C1842704 MeSH (SCR) C564306 608013 606463 GBA GAUCHER DISEASE, PERINATAL LETHAL GAUCHER DISEASE, COLLODION TYPE CON00071 CON00071 Gaucher disease, type IIIC Gaucher disease, type IIIC neuronopathic form, cardiovascular form 67 C1856476 MeSH (SCR) C565553 231005 606463 GBA ゴーシェ病IIIC型 GAUCHER DISEASE, TYPE IIIC 3型Gaucher病 3型ゴーシェ病 CON00072 CON00072 Gaucher disease, atypical, due to saposin C deficiency Gaucher disease, atypical, due to saposin C deficiency 66 C1864651 MeSH (SCR) C566435 610539 176801 PSAP ゴーシェ病様蓄積症 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY Gaucher病様蓄積症 サポシンC欠損症 PROSAPOSIN DEFICIENCY PSAPD COMBINED SAP DEFICIENCY CON00084 CON00084 Metachromatic leukodystrophy, due to saposin B deficiency Metachromatic leukodystrophy, due to saposin B deficiency Sphingolipid activator protein 1 deficiency 61 C0268262 MeSH (SCR) C562609 249900 176801 PSAP 異染性白質ジストロフィー様蓄積病 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY サポシンB欠損症 METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY SAPOSIN B DEFICIENCY Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00098 CON00098 Combined saposin deficiency Combined saposin deficiency saposin deficiency prosaposin deficiency 97 C2673635 MeSH (SCR) C567125 611721 176801 PSAP プロサポシン欠損症 COMBINED SAPOSIN DEFICIENCY PROSAPOSIN DEFICIENCY PSAPD COMBINED SAP DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. CON00109 CON00109 Airway Obstruction Airway Obstruction C0001883 MeSH D000402 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00110 CON00110 Anemia Anemia C0002871 MeSH D000740 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00111 CON00111 Angiokeratoma Angiokeratoma C0002985 MeSH D000794 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00119 CON00119 Blindness Blindness Vision loss C0456909 MeSH D001766 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00120 CON00120 Blood Platelet Disorders Blood Platelet Disorders C0005818 MeSH D001791 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00121 CON00121 Body Temperature Changes Body Temperature Changes C0005904 MeSH D001832 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00122 CON00122 Bone Diseases Bone Diseases C0005940 MeSH D001847 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00123 CON00123 Bone Diseases, Developmental Bone Diseases, Developmental C0005941 MeSH D001848 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00124 CON00124 Bone Diseases, Metabolic Bone Diseases, Metabolic C0005944 MeSH D001851 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00108 CON00108 Adrenal Gland Diseases Adrenal Gland Diseases C0001621 MeSH D000307 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00067 CON00067 Gaucher disease, type II Gaucher disease, type II 64 C0268250,C1842704 MeSH (SCR) D005776,C564306 230900, 608013 606463 GBA ゴーシェ病II型 GAUCHER DISEASE, TYPE II ゴーシェ病2型 2型ゴーシェ病 2型Gaucher病 GD II GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE CON00030 CON00030 Hurler-Scheie syndrome Hurler-Scheie syndrome Mucopolysaccharidosis type IH/S MPS1-HS 84 C0086431 MeSH D008059 607015 252800 IDUA ハーラー・シャイエ症候群 HURLER-SCHEIE SYNDROME ムコ多糖症IH/S型 Hurler/Scheie病 MUCOPOLYSACCHARIDOSIS TYPE IH/S MPS1-HS Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00031 CON00031 Scheie syndrome Scheie syndrome Mucopolysaccharidosis type IS MPS1-S Scheie's syndrome Mucopolysaccharidosis type V 83 C0026708 MeSH D008059 607016 252800 IDUA シャイエ症候群 SCHEIE SYNDROME Scheie症候群 ムコ多糖症IS型 MPS IS型 MUCOPOLYSACCHARIDOSIS TYPE IS MPS1-S MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY MPS V, FORMERLY MPS5, FORMERLY Scheie's syndrome Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. CON00032 CON00032 Mucopolysaccharidosis II Mucopolysaccharidosis II MPS II Hunter syndrome 85 C0026705 MeSH D016532 309900 300823 IDS ハンター症候群 MUCOPOLYSACCHARIDOSIS TYPE II Hunter症候群 MPS II型 MPS II MPS2 HUNTER SYNDROME IDURONATE 2-SULFATASE DEFICIENCY IDS DEFICIENCY SULFOIDURONATE SULFATASE DEFICIENCY SIDS DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00033 CON00033 Mucopolysaccharidosis III Mucopolysaccharidosis III MPS III C0026706 MeSH D009084 Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. CON00034 CON00034 Sanfilippo syndrome A Sanfilippo syndrome A Mucopolysaccharidosis type IIIA MPS IIIA 86 C0086647 MeSH D009084 252900 605270 SGSH ムコ多糖症IIIA型 MUCOPOLYSACCHARIDOSIS TYPE IIIA サンフィリッポ病Ａ型 サンフィリッポ症候群A型 MPS3A MPS IIIA SANFILIPPO SYNDROME A HEPARAN SULFATE SULFATASE DEFICIENCY SULFAMIDASE DEFICIENCY Mucopolysaccharidosis type 3A Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00125 CON00125 Brain Diseases Brain Diseases C0006111 MeSH D001927 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00126 CON00126 Brain Diseases, Metabolic Brain Diseases, Metabolic C0006112 MeSH D001928 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00127 CON00127 Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic, Inborn C0752109 MeSH D020739 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00128 CON00128 Cardiomegaly Cardiomegaly C0018800 MeSH D006332 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00129 CON00129 Cardiovascular Abnormalities Cardiovascular Abnormalities C0243050 MeSH D018376 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00131 CON00131 Carpal Tunnel Syndrome Carpal Tunnel Syndrome C0007286 MeSH D002349 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00132 CON00132 Cataract Cataract C0086543 MeSH D002386 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00134 CON00134 Cerebrovascular Disorders Cerebrovascular Disorders C0007820 MeSH D002561 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00135 CON00135 Child Behavior Disorders Child Behavior Disorders C0008066 MeSH D002653 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00136 CON00136 Child Reactive Disorders Child Reactive Disorders C0008090 MeSH D002667 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00137 CON00137 Communication Disorders Communication Disorders C0009460 MeSH D003147 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00139 CON00139 Connective Tissue Diseases Connective Tissue Diseases C0009782 MeSH D003240 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00140 CON00140 Constipation Constipation C0009806 MeSH D003248 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00141 CON00141 Contracture Contracture C0009917 MeSH D003286 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00142 CON00142 Corneal Diseases Corneal Diseases C0010034 MeSH D003316 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00143 CON00143 Corneal Opacity Corneal Opacity Corneal clouding C0010038 MeSH D003318 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00144 CON00144 Coronary Aneurysm Coronary Aneurysm C0010051 MeSH D003323 CON00145 CON00145 Coronary Artery Disease Coronary Artery Disease C1956346 MeSH D003324 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00146 CON00146 Coronary Disease Coronary Disease C0010068 MeSH D003327 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00147 CON00147 Craniofacial Abnormalities Craniofacial Abnormalities C0376634 MeSH D019465 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00148 CON00148 Cutis Laxa Cutis Laxa Loose skin C0010495 MeSH D003483 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00149 CON00149 Deglutition Disorders Deglutition Disorders Swallowing difficulty C0011168 MeSH D003680 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00150 CON00150 Delusions Delusions C0011253 MeSH D003702 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00151 CON00151 Dementia Dementia C0497327 MeSH D003704 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00152 CON00152 Demyelinating Diseases Demyelinating Diseases C0011303 MeSH D003711 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00153 CON00153 Depression Depression C0011570 MeSH D003863 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00154 CON00154 Developmental Disabilities Developmental Disabilities C0008073 MeSH D002658 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00155 CON00155 Diarrhea Diarrhea C0011991 MeSH D003967 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00158 CON00158 Dwarfism Dwarfism Short stature disorder C0013336 MeSH D004392 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00159 CON00159 Dyskinesias Dyskinesias C0013384 MeSH D020820 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00160 CON00160 Dysostoses Dysostoses Dysostosis multiplex C0013393 MeSH D004413 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00161 CON00161 Dyspnea Dyspnea C0013404 MeSH D004417 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00162 CON00162 Dystonia Dystonia C0013421 MeSH D004421 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00163 CON00163 Ear Diseases Ear Diseases C0013447 MeSH D004427 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00164 CON00164 Edema Edema C0013604 MeSH D004487 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00166 CON00166 Eye Abnormalities Eye Abnormalities C0015393 MeSH D005124 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00255 CON00255 Myocardial Ischemia Myocardial Ischemia C0151744 MeSH D017202 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00256 CON00256 Myoclonus Myoclonus C0027066 MeSH D009207 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00258 CON00258 Neoplasms by Histologic Type Neoplasms by Histologic Type C0027652 MeSH D009370 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00259 CON00259 Neoplasms, Vascular Tissue Neoplasms, Vascular Tissue C0027668 MeSH D009383 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00260 CON00260 Nerve Compression Syndromes Nerve Compression Syndromes C0027743 MeSH D009408 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00263 CON00263 Neurobehavioral Manifestations Neurobehavioral Manifestations C0525041 MeSH D019954 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00264 CON00264 Neurodegenerative Diseases Neurodegenerative Diseases C0524851 MeSH D019636 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00265 CON00265 Neurologic Manifestations Neurologic Manifestations C0027854 MeSH D009461 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00266 CON00266 Neuromuscular Diseases Neuromuscular Diseases C0027868 MeSH D009468 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00267 CON00267 Neuromuscular Manifestations Neuromuscular Manifestations C0752252 MeSH D020879 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00268 CON00268 Ocular Hypertension Ocular Hypertension C0028840 MeSH D009798 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00269 CON00269 Ocular Motility Disorders Ocular Motility Disorders C0028850 MeSH D015835 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00270 CON00270 Osteoporosis Osteoporosis C0029456 MeSH D010024 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00271 CON00271 Otitis Otitis C0029877 MeSH D010031 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00273 CON00273 Pain Pain C0030193 MeSH D010146 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00274 CON00274 Paralysis Paralysis C0522224 MeSH D010243 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00275 CON00275 Paraparesis Paraparesis C0221166 MeSH D020335 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00276 CON00276 Paraparesis, Spastic Paraparesis, Spastic C0037771 MeSH D020336 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00277 CON00277 Paresis Paresis C0030552 MeSH D010291 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00278 CON00278 Paresthesia Paresthesia C0030554 MeSH D010292 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00279 CON00279 Pathologic Processes Pathologic Processes C0030660 MeSH D010335 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00280 CON00280 Pathological Conditions, Anatomical Pathological Conditions, Anatomical C0752135 MeSH D020763 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00282 CON00282 Perceptual Disorders Perceptual Disorders C0030975 MeSH D010468 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00283 CON00283 Periodontal Diseases Periodontal Diseases C0031090 MeSH D010510 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00284 CON00284 Peripheral Nervous System Diseases Peripheral Nervous System Diseases C0031117 MeSH D010523 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00285 CON00285 Peripheral Vascular Diseases Peripheral Vascular Diseases C0085096 MeSH D016491 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00286 CON00286 Pharyngeal Diseases Pharyngeal Diseases C0031345 MeSH D010608 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00288 CON00288 Renal Insufficiency Renal Insufficiency Kidney failure C1565489 MeSH D051437 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00289 CON00289 Respiration Disorders Respiration Disorders C0035204 MeSH D012120 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00290 CON00290 Respiratory Insufficiency Respiratory Insufficiency C0035229 MeSH D012131 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00292 CON00292 Respiratory Tract Infections Respiratory Tract Infections C0035243 MeSH D012141 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00293 CON00293 Retinal Degeneration Retinal Degeneration C0035304 MeSH D012162 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00294 CON00294 Retinal Diseases Retinal Diseases C0035309 MeSH D012164 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00295 CON00295 Seizures Seizures C0036572 MeSH D012640 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00296 CON00296 Sensation Disorders Sensation Disorders C0036659 MeSH D012678 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00297 CON00297 Signs and Symptoms Signs and Symptoms C0037088 MeSH D012816 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00298 CON00298 Signs and Symptoms, Digestive Signs and Symptoms, Digestive C0037089 MeSH D012817 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00299 CON00299 Skin Abnormalities Skin Abnormalities C0037268 MeSH D012868 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00301 CON00301 Skin Diseases Skin Diseases C0037274 MeSH D012871 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00302 CON00302 Sleep Apnea Syndromes Sleep Apnea Syndromes C0037315 MeSH D012891 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00303 CON00303 Sleep Apnea, Obstructive Sleep Apnea, Obstructive C0520679 MeSH D020181 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00304 CON00304 Sleep Disorders Sleep Disorders C0851578 MeSH D012893 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00305 CON00305 Somatosensory Disorders Somatosensory Disorders C0752262 MeSH D020886 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00306 CON00306 Speech Disorders Speech Disorders C0037822 MeSH D013064 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00307 CON00307 Spinal Cord Compression Spinal Cord Compression C0037926 MeSH D013117 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00308 CON00308 Spinal Cord Diseases Spinal Cord Diseases C0037928 MeSH D013118 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00309 CON00309 Spinal Curvatures Spinal Curvatures C0037932 MeSH D013121 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00310 CON00310 Spinal Diseases Spinal Diseases C0037933 MeSH D013122 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00311 CON00311 Spinal Stenosis Spinal Stenosis C0037944 MeSH D013130 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00312 CON00312 Splenic Diseases Splenic Diseases C0037997 MeSH D013158 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00314 CON00314 Stomatognathic System Abnormalities Stomatognathic System Abnormalities C0243057 MeSH D018640 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00315 CON00315 Stroke Stroke Cerebrovascular Accident C0038454 MeSH D020521 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00316 CON00316 Sweat Gland Diseases Sweat Gland Diseases C0038986 MeSH D013543 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00317 CON00317 Thrombocytopenia Thrombocytopenia C0040034 MeSH D013921 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00318 CON00318 Tinnitus Tinnitus C0040264 MeSH D014012 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00319 CON00319 Tongue Diseases Tongue Diseases C0040409 MeSH D014060 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00321 CON00321 Urinary Incontinence Urinary Incontinence C0042024 MeSH D014549 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00322 CON00322 Urologic Diseases Urologic Diseases C0042075 MeSH D014570 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00323 CON00323 Urological Manifestations Urological Manifestations C0752303 MeSH D020924 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00324 CON00324 Vascular Diseases Vascular Diseases C0042373 MeSH D014652 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00325 CON00325 Vision Disorders Vision Disorders C0042790 MeSH D014786 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00168 CON00168 Facial Paralysis Facial Paralysis C0015469 MeSH D005158 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00169 CON00169 Fasciculation Fasciculation Spontaneous contraction of muscle C0015644 MeSH D005207 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00170 CON00170 Feeding and Eating Disorders of Childhood Feeding and Eating Disorders of Childhood C0525042 MeSH D019959 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00337 CON00337 Genetic disorders of glycan synthesis Genetic disorders of glycan synthesis Genetic defects of glycan synthesis Diseases associated with biosynthesis of glycoconjugates Diseases that affect glycan synthesis Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. CON00338 CON00338 Defects in N-glycan biosynthesis Defects in N-glycan biosynthesis N-Glycan or multiple pathway defects Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00339 CON00339 Congenital disorders of glycosylation (CDGs) Congenital disorders of glycosylation (CDGs) Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00340 CON00340 Defects in protein N-glycosylation Defects in protein N-glycosylation Defects in asparagine (N)-linked glycosylation Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00341 CON00341 Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs) Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs) Defects in protein N-glycosylation Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00342 CON00342 Type I CDGs Type I CDGs Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00357 CON00357 Type II CDGs Type II CDGs Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00366 CON00366 COG5-CDG COG5-CDG CDG-IIi Congenital disorder of glycosylation, type IIi C3150876 613612 606821 COG5 Congenital disorder of glycosylation type 2I Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00367 CON00367 COG4-CDG COG4-CDG CDG-IIj Congenital disorder of glycosylation, type IIj C3150736 613489 606976 COG4 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj CDG2J CDG IIj CDGIIj Congenital disorder of glycosylation type 2J Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00368 CON00368 Other CDGs Other CDGs Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00369 CON00369 TUSC3-CDG TUSC3-CDG Oligosaccharyltransferase TUSC3 subunit defect Mental retardation, autosomal recessive 7 (MRT7) Mental retardation, autosomal recessive 22 C1970197 611093 601385 TUSC3 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 MRT7 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 MRT22 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 1 Defects in protein N-glycosylation. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00372 CON00372 Other disorders that affect N-glycans Other disorders that affect N-glycans Other Defect in N-Glycan Biosynthesis Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00374 CON00374 Defects in protein O-glycosylation Defects in protein O-glycosylation Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00375 CON00375 Defects in O-mannosylglycan synthesis Defects in O-mannosylglycan synthesis Defects of O-Man glycosylation Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Levy PA (2009) Inborn errors of metabolism: part 2: specific disorders. Pediatr Rev 30(4):e22-e28. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00330 CON00330 Mucopolysaccharidosis Mucopolysaccharidosis Mucopolysaccharidoses C0026703 MeSH D009083 CON00434 CON00434 Abdominal Pain Abdominal Pain C0000737 MeSH D015746 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00173 CON00173 Fever Fever C0015967 MeSH D005334 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00174 CON00174 Gait Disorders, Neurologic Gait Disorders, Neurologic C0751830 MeSH D020233 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00175 CON00175 Gastrointestinal Diseases Gastrointestinal Diseases C0017178 MeSH D005767 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00178 CON00178 Gingival Hyperplasia Gingival Hyperplasia C0017566 MeSH D005885 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00179 CON00179 Gingival Overgrowth Gingival Overgrowth C0376480 MeSH D019214 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00180 CON00180 Glaucoma Glaucoma C0017601 MeSH D005901 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00181 CON00181 Growth Disorders Growth Disorders C0018273 MeSH D006130 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00182 CON00182 Hallucinations Hallucinations C0018524 MeSH D006212 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00171 CON00171 Female Urogenital Diseases Female Urogenital Diseases C1720887 MeSH D052776 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00183 CON00183 Hearing Disorders Hearing Disorders C0260662 MeSH D006311 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00184 CON00184 Hearing Loss Hearing Loss Hearing impairment C1384666 MeSH D034381 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00185 CON00185 Heart Defects, Congenital Heart Defects, Congenital C0018798 MeSH D006330 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00187 CON00187 Heart Failure Heart Failure Cardiac Failure C0018801 MeSH D006333 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00188 CON00188 Heart Valve Diseases Heart Valve Diseases C0018824 MeSH D006349 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00191 CON00191 Hemorrhagic Disorders Hemorrhagic Disorders C0019087 MeSH D006474 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00192 CON00192 Hepatomegaly Hepatomegaly C0019209 MeSH D006529 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00193 CON00193 Hereditary Central Nervous System Demyelinating Diseases Hereditary Central Nervous System Demyelinating Diseases C0751877 MeSH D020279 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00195 CON00195 Heredodegenerative Disorders, Nervous System Heredodegenerative Disorders, Nervous System C0751870 MeSH D020271 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00196 CON00196 Hernia Hernia C0019270 MeSH D006547 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00172 CON00172 Female Urogenital Diseases and Pregnancy Complications Female Urogenital Diseases and Pregnancy Complications C1720765 MeSH D005261 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00194 CON00194 Hereditary disorders by systems Hereditary disorders by systems C1285301 SNOMED CT 363137000 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. CON00373 CON00373 SEC23B-CDG SEC23B-CDG Congenital dyserythropoietic anaemia, type II CDA II Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS) 99 C1306589 MeSH D000742 224100 610512 SEC23B 先天性赤芽球生成異常性貧血II型 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II CDAN2 酸溶血試験陽性の遺伝性多核赤芽球症 DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II CDA II DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST HEMPAS Dyserythropoietic Anemia, Congenital Type 2 Congenital Dyserythropoietic Anemia Type II Congenital Dyserythropoietic Anemia Type 2 Anemia, Dyserythropoietic, Congenital Type 2 HEMPAS Anemia Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00356 CON00356 RFT1-CDG RFT1-CDG CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency C2677590 MeSH (SCR) C567437 612015 611908 RFT1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In CDG1N Congenital disorder of glycosylation type 1N CDG In CDGIn Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 1 Defects in protein N-glycosylation. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00358 CON00358 MGAT2-CDG MGAT2-CDG CDG-IIa Congenital disorder of glycosylation, type IIa 48 MGAT2 C2931008 MeSH (SCR) C535752 212066 602616 MGAT2 先天性糖鎖異常症IIa型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa CDG2A CDG IIa CDGIIa ALKURAYA SYNDROME MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY CDGS2, FORMERLY Congenital disorder of glycosylation type 2A Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00359 CON00359 GCS1-CDG GCS1-CDG CDG-IIb MOGS-CDG Congenital disorder of glycosylation, type IIb 49 C1853736 MeSH (SCR) C565264 606056 601336 GCS1 先天性糖鎖異常症IIb型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb CDG2B CDG IIb CDGIIb GLUCOSIDASE I DEFICIENCY Congenital disorder of glycosylation type 2B MOGS-CDG (CDG-IIb) Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00360 CON00360 SLC35C1-CDG SLC35C1-CDG CDG-IIc Congenital disorder of glycosylation, type IIc Leukocyte adhesion deficiency, type 2 Rambam Hasharon syndrome 50 SLC35C1 C0398739 MeSH (SCR) C535755 266265 605881 SLC35C1 先天性糖鎖異常症IIc型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc CDG2C CDG IIc CDGIIc LEUKOCYTE ADHESION DEFICIENCY, TYPE II LAD2 RAMBAM-HASHARON SYNDROME RHS Congenital disorder of glycosylation, type 2C Leukocyte adhesion deficiency, type 2 Rambam Hasharon syndrome Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00361 CON00361 B4GALT1-CDG B4GALT1-CDG CDG-IId Congenital disorder of glycosylation, type IId 51 B4GALT1 C1846816 MeSH (SCR) C564625 607091 137060 B4GALT1 先天性糖鎖異常症IId型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId CDG2D CDG IId CDGIId Congenital disorder of glycosylation type 2D Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00362 CON00362 COG7-CDG COG7-CDG CDG-IIe Congenital disorder of glycosylation, type IIe 52 C1837437 MeSH (SCR) C535754 608779 606978 COG7 先天性糖鎖異常症IIe型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe CDG2E CDG IIe CDGIIe Congenital disorder of glycosylation type 2E Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00364 CON00364 COG1-CDG COG1-CDG CDG-IIg Congenital disorder of glycosylation, type IIg CDGII/COG1 Cerebrocostomandibular-like syndrome COG1 deficiency C1970016 MeSH (SCR) C535756 611209 606973 COG1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg CDG2G Congenital disorder of glycosylation type 2G CDG IIg CDGIIg CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00197 CON00197 Hernia, Abdominal Hernia, Abdominal C0178282 MeSH D046449 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00198 CON00198 Hernia, Inguinal Hernia, Inguinal C0019294 MeSH D006552 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00327 CON00327 Vomiting Vomiting C0042963 MeSH D014839 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00331 CON00331 Aneurysm Aneurysm C0002940 MeSH D000783 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00199 CON00199 Hernia, Umbilical Hernia, Umbilical C1306503 MeSH D006554 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00200 CON00200 Hernia, Ventral Hernia, Ventral C0019326 MeSH D006555 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00201 CON00201 Hip Dislocation, Congenital Hip Dislocation, Congenital C0019555 MeSH D006618 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00202 CON00202 Histiocytosis Histiocytosis C0019618 MeSH D015614 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00203 CON00203 Hoarseness Hoarseness C0019825 MeSH D006685 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00204 CON00204 Hydrocephalus Hydrocephalus C0020255 MeSH D006849 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00205 CON00205 Hydrops Fetalis Hydrops Fetalis C0020305 MeSH D015160 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00206 CON00206 Hyperbilirubinemia Hyperbilirubinemia C0020433 MeSH D006932 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00207 CON00207 Hypesthesia Hypesthesia Numbness C0020580 MeSH D006987 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00208 CON00208 Hypohidrosis Hypohidrosis C0020620 MeSH D007007 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00209 CON00209 Hypokinesia Hypokinesia C0086439 MeSH D018476 CON00210 CON00210 Ichthyosis Ichthyosis C0020757 MeSH D007057 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00211 CON00211 Intellectual Disability Intellectual Disability Mental Retardation C0025362 MeSH D008607 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00212 CON00212 Intracranial Hypertension Intracranial Hypertension C0151740 MeSH D019586 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00213 CON00213 Joint Diseases Joint Diseases C0022408 MeSH D007592 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00214 CON00214 Kidney Diseases Kidney Diseases C0022658 MeSH D007674 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00215 CON00215 Kyphosis Kyphosis C0022821 MeSH D007738 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00216 CON00216 Labyrinth Diseases Labyrinth Diseases C0022890 MeSH D007759 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00217 CON00217 Language Disorders Language Disorders C0023015 MeSH D007806 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00218 CON00218 Learning Disorders Learning Disorders C0023186 MeSH D007859 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00219 CON00219 Lens Diseases Lens Diseases C0023308 MeSH D007905 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00220 CON00220 Limb Deformities, Congenital Limb Deformities, Congenital C0206762 MeSH D017880 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00221 CON00221 Liver Diseases Liver Diseases C0023895 MeSH D008107 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00222 CON00222 Lower Urinary Tract Symptoms Lower Urinary Tract Symptoms C0574785 MeSH D059411 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00223 CON00223 Lung Diseases Lung Diseases C0024115 MeSH D008171 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00224 CON00224 Lymphatic Diseases Lymphatic Diseases C0024228 MeSH D008206 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00226 CON00226 Macrocephaly Macrocephaly C0221355 MeSH D058627 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00227 CON00227 Macroglossia Macroglossia C0024421 MeSH D008260 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00376 CON00376 POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) Walker-Warburg syndrome (WWS) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2) 102 C0265221,C3150411 MeSH D058494 236670,613150 607423,607439 POMT1,POMT2 ウォーカー・ワールブルグ症候群 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 and TYPE A, 2 MDDGA1 and MDDGA2 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED and POMT2-RELATED HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA HARD SYNDROME CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME COD-MD SYNDROME Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00387 CON00387 Defects in O-xylosylglycan synthesis Defects in O-xylosylglycan synthesis Defects in Glycosaminoglycan Synthesis Defects of glycosaminoglycan biosynthesis Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 2 Defects in protein O-glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Levy PA (2009) Inborn errors of metabolism: part 2: specific disorders. Pediatr Rev 30(4):e22-e28. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00390 CON00390 Defective GAG Sulfation Defective GAG Sulfation GAG Sulfation Deficiencies Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00392 CON00392 Chondrodysplasias (CDs) Chondrodysplasias (CDs) Autosomal recessive chondrodysplasias Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00394 CON00394 Other CDs Other CDs Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00400 CON00400 Defects in O-GalNAc glycan biosynthesis Defects in O-GalNAc glycan biosynthesis Defects in O-N-acetylgalactosaminylglycan synthesis Defects of O-GalNAc glycosylation Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Levy PA (2009) Inborn errors of metabolism: part 2: specific disorders. Pediatr Rev 30(4):e22-e28. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00403 CON00403 Defects in O-fucosylglycan synthesis Defects in O-fucosylglycan synthesis Defects in O-Fucose-Linked Glycans Defects of O-Fuc glycosylation Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Levy PA (2009) Inborn errors of metabolism: part 2: specific disorders. Pediatr Rev 30(4):e22-e28. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00406 CON00406 Defects in O-galactosyl glycan biosynthesis Defects in O-galactosyl glycan biosynthesis Defects in O-galactosyl glycan synthesis Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Levy PA (2009) Inborn errors of metabolism: part 2: specific disorders. Pediatr Rev 30(4):e22-e28. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600. CON00410 CON00410 Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Defects in glycosphingolipid and glycosylphosphaditylinositol biosynthesis Defects in glycolipid synthesis Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 3 Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00411 CON00411 Disorders of glycosphingolipid biosynthesis Disorders of glycosphingolipid biosynthesis Defects in GSL synthesis Glycosphingolipid defects Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00413 CON00413 Disorders of glycosylphosphatidylinositol anchor biosynthesis Disorders of glycosylphosphatidylinositol anchor biosynthesis Defects in GPI-anchor biosynthesis GPI anchor defects Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00416 CON00416 Defects in multiple glycosylation and other pathways Defects in multiple glycosylation and other pathways Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00417 CON00417 GNE-CDG (hereditary inclusion body myopathy) GNE-CDG (hereditary inclusion body myopathy) Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00418 CON00418 Defects in dolichol biosynthesis Defects in dolichol biosynthesis Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00419 CON00419 Defects in COG protein complex Defects in COG protein complex COG complex Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00420 CON00420 Defect in V-ATPase a2 subunit Defect in V-ATPase a2 subunit Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00421 CON00421 FKTN-CDG (cong. muscular dystrophy spectrum) FKTN-CDG (cong. muscular dystrophy spectrum) Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00422 CON00422 FKRP-CDG (cong. muscular dystrophy spectrum) FKRP-CDG (cong. muscular dystrophy spectrum) Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00423 CON00423 Defects in O-xylosyl/N-acetylgalactosaminylglycan synthesis Defects in O-xylosyl/N-acetylgalactosaminylglycan synthesis Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. CON00424 CON00424 Genetic disorders of glycan synthesis (traditional nomenclature) Genetic disorders of glycan synthesis (traditional nomenclature) Genetic defects of glycan synthesis Diseases associated with biosynthesis of glycoconjugates Diseases that affect glycan synthesis Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00425 CON00425 Genetic disorders of glycan synthesis (new nomenclature) Genetic disorders of glycan synthesis (new nomenclature) Genetic defects of glycan synthesis Diseases associated with biosynthesis of glycoconjugates Diseases that affect glycan synthesis Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Hennet T (2009) From glycosylation disorders back to glycosylation: what have we learned? Biochim Biophys Acta 1792(9):921-924. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00427 CON00427 Genetic disorders of glycan synthesis (by systems, signs and symptoms) Genetic disorders of glycan synthesis (by systems, signs and symptoms) Genetic defects of glycan synthesis Diseases associated with biosynthesis of glycoconjugates Diseases that affect glycan synthesis U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00435 CON00435 Adrenogenital Syndrome Adrenogenital Syndrome C0302280 MeSH D047808 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00436 CON00436 Affect Affect C0001721 MeSH D000339 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00437 CON00437 Agranulocytosis Agranulocytosis C0001824 MeSH D000380 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00438 CON00438 Alopecia Alopecia Hair Loss C0002170 MeSH D000505 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00384 CON00384 Duchenne muscular dystrophy Duchenne muscular dystrophy DMD Muscular dystrophy, pseudohypertrophic progressive, Duchenne type C0013264 MeSH D020388 310200 300377 DMD MUSCULAR DYSTROPHY, DUCHENNE TYPE DMD DUCHENNE MUSCULAR DYSTROPHY MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00439 CON00439 Anemia, Hemolytic Anemia, Hemolytic C0002878 MeSH D000743 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00440 CON00440 Anemia, Hemolytic, Autoimmune Anemia, Hemolytic, Autoimmune C0002880 MeSH D000744 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00441 CON00441 Aneurysm, Dissecting Aneurysm, Dissecting C0002949 MeSH D000784 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00442 CON00442 Aneurysm, Ruptured Aneurysm, Ruptured C0162869 MeSH D017542 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00444 CON00444 Articulation Disorders Articulation Disorders C0003910 MeSH D001184 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00445 CON00445 Autoimmune Diseases Autoimmune Diseases C0004364 MeSH D001327 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00446 CON00446 Biliary Tract Diseases Biliary Tract Diseases C0005424 MeSH D001660 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00447 CON00447 Blood Coagulation Disorders Blood Coagulation Disorders C0005779 MeSH D001778 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00448 CON00448 Blood Protein Disorders Blood Protein Disorders C0005830 MeSH D001796 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00449 CON00449 Brachydactyly Brachydactyly C0221357 MeSH D059327 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00450 CON00450 Calcinosis Calcinosis C0006663 MeSH D002114 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00451 CON00451 Calcium Metabolism Disorders Calcium Metabolism Disorders C0006705 MeSH D002128 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00452 CON00452 Cardiomyopathies Cardiomyopathies C0878544 MeSH D009202 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00453 CON00453 Cartilage Diseases Cartilage Diseases C0007302 MeSH D002357 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00414 CON00414 Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION) Paroxysmal nocturnal hemoglobinuria 1 PNH1 115 C0024790 MeSH D006457 300818 311770 PIGA 発作性夜間血色素尿症 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 PNH1 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA PNH Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00454 CON00454 Central Nervous System Cysts Central Nervous System Cysts C0349606 MeSH D020863 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00232 CON00232 Mental Disorders Mental Disorders C0004936 MeSH D001523 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00235 CON00235 Metabolism, Inborn Errors Metabolism, Inborn Errors C0025521 MeSH D008661 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00378 CON00378 Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy FKTN-CDG (cong. muscular dystrophy spectrum) Fukuyama congenital muscular dystrophy (FCMD) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4) 103 FCMD C0410174 MeSH D058494 253800 607440 FKTN 先天性福山型筋ジストロフィー MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 MDDGA4 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY FCMD WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED Cerebromuscular dystrophy, Fukuyama type Fukuyama CMD Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00252 CON00252 Musculoskeletal Diseases Musculoskeletal Diseases C0026857 MeSH D009140 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00380 CON00380 Cardiomyopathy, dilated, 1X Cardiomyopathy, dilated, 1X FKTN-CDG (cong. muscular dystrophy spectrum) Cardiomyopathy, dilated, 1X (CMD1X) Dilated cardiomyopathy with mild or no proximal muscle weakness 105 FCMD C1969024 MeSH (SCR) C566907 611615 607440 FKTN 拡張型心筋症 CARDIOMYOPATHY, DILATED, 1X CMD1X CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS Dilated cardiomyopathy with mild or no proximal muscle weakness Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00381 CON00381 Muscular dystrophy, congenital, type 1C Muscular dystrophy, congenital, type 1C FKRP-CDG (cong. muscular dystrophy spectrum) Muscular dystrophy, congenital, type 1C (MDC1C) Congenital muscular dystrophy type 1C (CMD1C) Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5) 106 FKRP C1847759 MeSH (SCR) C564691 606612 606596 FKRP 先天性筋ジストロフィー1C型 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 MDDGB5 MUSCULAR DYSTROPHY, CONGENITAL, 1C MDC1C MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED Muscular dystrophy, congenital, type 1C Congenital muscular dystrophy type 1C CMD1C Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00382 CON00382 Muscular dystrophy, limb-girdle, type 2I Muscular dystrophy, limb-girdle, type 2I FKRP-CDG (cong. muscular dystrophy spectrum) Limb-girdle muscular dystrophy type 2I (LGMD2I) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5) 107 FKRP C1846672 MeSH (SCR) C564612 607155 606596 FKRP 肢帯型筋ジストロフィー2I型 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 MDDGC5 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I LGMD2I MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED Limb-girdle muscular dystrophy type 2I Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00383 CON00383 LARGE-CDG (cong. muscular dystrophy spectrum) LARGE-CDG (cong. muscular dystrophy spectrum) Congenital muscular dystrophy type 1D (CMD1D) Muscular dystrophy, congenital, type 1D (MDC1D) Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6) LARGE C1837229 MeSH (SCR) C563844 608840 603590 LARGE MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 MDDGB6 CMD1D Congenital muscular dystrophy type 1D MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D MDC1D Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00455 CON00455 Cerebellar Diseases Cerebellar Diseases C0007760 MeSH D002526 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00456 CON00456 Cholelithiasis Cholelithiasis C0008350 MeSH D002769 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00457 CON00457 Cleft Lip Cleft Lip C0008924 MeSH D002971 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00458 CON00458 Cleft Palate Cleft Palate C0008925 MeSH D002972 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00459 CON00459 Clubfoot Clubfoot Congenital talipes equinovarus C0009081 MeSH D003025 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00460 CON00460 Coagulation Protein Disorders Coagulation Protein Disorders Blood Coagulation Factor Deficiencies C0600503 MeSH D020147 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00461 CON00461 Cobblestone Lissencephaly Cobblestone Lissencephaly C0431376 MeSH D054222 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00229 CON00229 Malformations of Cortical Development Malformations of Cortical Development C1955869 MeSH D054220 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00230 CON00230 Maxillofacial Abnormalities Maxillofacial Abnormalities C0524948 MeSH D019767 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00231 CON00231 Median Neuropathy Median Neuropathy C0751922 MeSH D020423 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00233 CON00233 Mental Disorders Diagnosed in Childhood Mental Disorders Diagnosed in Childhood C0525040 MeSH D065886 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00234 CON00234 Mental Retardation, X-Linked Mental Retardation, X-Linked C1136249 MeSH D038901 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00236 CON00236 Microcephaly Microcephaly C0025958 MeSH D008831 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00237 CON00237 Mobility Limitation Mobility Limitation C1565249 MeSH D051346 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00238 CON00238 Mononeuropathies Mononeuropathies C0494491 MeSH D020422 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00239 CON00239 Motor Skills Disorders Motor Skills Disorders C0026613 MeSH D019957 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00240 CON00240 Mouth Diseases Mouth Diseases C0026636 MeSH D009059 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00241 CON00241 Movement Disorders Movement Disorders C0026650 MeSH D009069 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00242 CON00242 Mucinoses Mucinoses C0162855 MeSH D017520 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00244 CON00244 Muscle Hypertonia Muscle Hypertonia C0026826 MeSH D009122 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00245 CON00245 Muscle Hypotonia Muscle Hypotonia C0026827 MeSH D009123 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00246 CON00246 Muscle Rigidity Muscle Rigidity C0026837 MeSH D009127 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00247 CON00247 Muscle Spasticity Muscle Spasticity C0026838 MeSH D009128 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00248 CON00248 Muscle Weakness Muscle Weakness C0151786 MeSH D018908 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00249 CON00249 Muscular Atrophy Muscular Atrophy Muscle wasting C0026846 MeSH D009133 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00250 CON00250 Muscular Diseases Muscular Diseases C0026848 MeSH D009135 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00251 CON00251 Musculoskeletal Abnormalities Musculoskeletal Abnormalities C0151491 MeSH D009139 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00253 CON00253 Musculoskeletal Pain Musculoskeletal Pain C0026858 MeSH D059352 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00254 CON00254 Myocardial Infarction Myocardial Infarction Heart attack C0027051 MeSH D009203 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00335 CON00335 Cranial Nerve Diseases Cranial Nerve Diseases C0010266 MeSH D003389 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00336 CON00336 Jaundice Jaundice C0022346 MeSH D007565 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00379 CON00379 Muscular dystrophy, limb-girdle, type 2M Muscular dystrophy, limb-girdle, type 2M FKTN-CDG (cong. muscular dystrophy spectrum) Limb-girdle muscular dystrophy type 2M (LGMD2M) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4) 104 FCMD C1969040 MeSH (SCR) C566912 611588 607440 FKTN 肢帯型筋ジストロフィー2M型 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 MDDGC4 Limb-girdle muscular dystrophy type 2M MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M LGMD2M Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00530 CON00530 Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes C0021051 MeSH D007153 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00462 CON00462 Collagen Diseases Collagen Diseases C0009326 MeSH D003095 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00463 CON00463 Coloboma Coloboma C0009363 MeSH D003103 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00465 CON00465 Coxa Vara Coxa Vara Hip joint varus deformity C0239138 MeSH D060905 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00466 CON00466 Cryptorchidism Cryptorchidism C0010417 MeSH D003456 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00467 CON00467 Dental Enamel Hypoplasia Dental Enamel Hypoplasia C0011351 MeSH D003744 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00468 CON00468 Dermatitis Dermatitis C0011603 MeSH D003872 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00470 CON00470 Disorders of Sex Development Disorders of Sex Development C0036875 MeSH D012734 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00471 CON00471 Dysarthria Dysarthria C0013362 MeSH D004401 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00472 CON00472 Dysgammaglobulinemia Dysgammaglobulinemia C0013374 MeSH D004406 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00474 CON00474 Embolism and Thrombosis Embolism and Thrombosis C0085307 MeSH D016769 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00475 CON00475 Emotions Emotions C0013987 MeSH D004644 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00476 CON00476 Endomyocardial Fibrosis Endomyocardial Fibrosis C0553980 MeSH D004719 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00478 CON00478 Epilepsy Epilepsy C0014544 MeSH D004827 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00479 CON00479 Epilepsy, Generalized Epilepsy, Generalized C0014548 MeSH D004829 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00480 CON00480 Esophageal Diseases Esophageal Diseases C0014852 MeSH D004935 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00482 CON00482 Esophageal Spasm, Diffuse Esophageal Spasm, Diffuse C0014863 MeSH D015155 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00483 CON00483 Esotropia Esotropia C0014877 MeSH D004948 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00484 CON00484 Exostoses Exostoses C1442903 MeSH D005096 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00487 CON00487 Eye Diseases, Hereditary Eye Diseases, Hereditary C0015398 MeSH D015785 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00488 CON00488 Eye Manifestations Eye Manifestations C0015411 MeSH D005132 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00489 CON00489 Eye Pain Eye Pain C0151827 MeSH D058447 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00490 CON00490 Eyelid Diseases Eyelid Diseases C0015423 MeSH D005141 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00492 CON00492 Fatigue Fatigue C0015672 MeSH D005221 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00493 CON00493 Fetal Death Fetal Death C0015927 MeSH D005313 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00494 CON00494 Fetal Growth Retardation Fetal Growth Retardation C0015934 MeSH D005317 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00496 CON00496 Fractures, Bone Fractures, Bone C0016658 MeSH D050723 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00497 CON00497 Fractures, Spontaneous Fractures, Spontaneous Pathological fracture C0016663 MeSH D005598 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00498 CON00498 Gastrointestinal Hemorrhage Gastrointestinal Hemorrhage C0017181 MeSH D006471 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00500 CON00500 Glucose Metabolism Disorders Glucose Metabolism Disorders C1257958 MeSH D044882 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00501 CON00501 Gonadal Disorders Gonadal Disorders C0018050 MeSH D006058 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00502 CON00502 Hair Diseases Hair Diseases C0018500 MeSH D006201 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00504 CON00504 Hemoglobinuria Hemoglobinuria C0019048 MeSH D006456 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00505 CON00505 Hemoglobinuria, Paroxysmal Hemoglobinuria, Paroxysmal C0019050 MeSH D006457 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00506 CON00506 Hemolysis Hemolysis C0019054 MeSH D006461 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00508 CON00508 Hemostatic Disorders Hemostatic Disorders C0600502 MeSH D020141 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00509 CON00509 Hepatic Insufficiency Hepatic Insufficiency Liver Failure C0085605 MeSH D017093 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00510 CON00510 Hip Contracture Hip Contracture C0019553 MeSH D006616 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00511 CON00511 Hydrophthalmos Hydrophthalmos Buphthalmos C0020302 MeSH D006871 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00513 CON00513 Hyperinsulinism Hyperinsulinism C0020459 MeSH D006946 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00514 CON00514 Hyperopia Hyperopia C0020490 MeSH D006956 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00515 CON00515 Hyperostosis Hyperostosis C0020492 MeSH D015576 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00517 CON00517 Hyperpituitarism Hyperpituitarism C0020506 MeSH D006964 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00518 CON00518 Hyperprolactinemia Hyperprolactinemia C0020514 MeSH D006966 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00519 CON00519 Hypertelorism Hypertelorism C0020534 MeSH D006972 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00521 CON00521 Hypoalbuminemia Hypoalbuminemia C0239981 MeSH D034141 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00522 CON00522 Hypoglycemia Hypoglycemia C0020615 MeSH D007003 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00523 CON00523 Hypogonadism Hypogonadism C0020619 MeSH D007006 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00525 CON00525 Hypospadias Hypospadias C0848558 MeSH D007021 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00526 CON00526 Hypothyroidism Hypothyroidism C0020676 MeSH D007037 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00527 CON00527 Hypotrichosis Hypotrichosis C0020678 MeSH D007039 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00529 CON00529 Immune System Diseases Immune System Diseases C0021053 MeSH D007154 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00531 CON00531 Inflammation Inflammation C0021368 MeSH D007249 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00532 CON00532 Insulin Resistance Insulin Resistance C0021655 MeSH D007333 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00533 CON00533 Intestinal Diseases Intestinal Diseases C0021831 MeSH D007410 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00535 CON00535 Irritable Mood Irritable Mood Irritability C0022107 MeSH D007508 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00536 CON00536 Jaw Abnormalities Jaw Abnormalities C0022360 MeSH D007569 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00537 CON00537 Joint Instability Joint Instability C0022410 MeSH D007593 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00539 CON00539 Lethargy Lethargy C0023380 MeSH D053609 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00540 CON00540 Leukocyte Disorders Leukocyte Disorders C0023510 MeSH D007960 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00541 CON00541 Leukocyte-Adhesion Deficiency Syndrome Leukocyte-Adhesion Deficiency Syndrome C0242597 MeSH D018370 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00543 CON00543 Leukopenia Leukopenia C0023530 MeSH D007970 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00544 CON00544 Lissencephaly Lissencephaly C0266463 MeSH D054082 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00545 CON00545 Liver Cirrhosis Liver Cirrhosis C0023890 MeSH D008103 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00547 CON00547 Lower Extremity Deformities, Congenital Lower Extremity Deformities, Congenital C0431943 MeSH D038061 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00548 CON00548 Metabolic Diseases Metabolic Diseases C0025517 MeSH D008659 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00549 CON00549 Micrognathism Micrognathism C0025990 MeSH D008844 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00551 CON00551 Mouth Abnormalities Mouth Abnormalities C0026633 MeSH D009056 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00552 CON00552 Muscular Disorders, Atrophic Muscular Disorders, Atrophic C0752352 MeSH D020966 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00553 CON00553 Muscular Dystrophies Muscular Dystrophies C0026850 MeSH D009136 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00554 CON00554 Myopia Myopia C0027092 MeSH D009216 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00556 CON00556 Neoplasms, Connective and Soft Tissue Neoplasms, Connective and Soft Tissue C0206765 MeSH D018204 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00557 CON00557 Neoplasms, Connective Tissue Neoplasms, Connective Tissue C0027656 MeSH D009372 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00558 CON00558 Neoplastic Syndromes, Hereditary Neoplastic Syndromes, Hereditary C0027672 MeSH D009386 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00560 CON00560 Nephrotic Syndrome Nephrotic Syndrome C0027726 MeSH D009404 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00561 CON00561 Neuronal Migration Disorders Neuronal Migration Disorders C1837249 MeSH D054081 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00562 CON00562 Neutropenia Neutropenia C0027947 MeSH D009503 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00564 CON00564 Nystagmus, Pathologic Nystagmus, Pathologic C0028738 MeSH D009759 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00565 CON00565 Optic Atrophies, Hereditary Optic Atrophies, Hereditary C0029125 MeSH D015418 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00566 CON00566 Optic Atrophy Optic Atrophy C0029124 MeSH D009896 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00568 CON00568 Osteoarthritis Osteoarthritis Degenerative polyarthritis C0029408 MeSH D010003 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00569 CON00569 Osteochondrodysplasias Osteochondrodysplasias C0029422 MeSH D010009 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00570 CON00570 Osteochondroma Osteochondroma Cartilaginous exostosis C0029423 MeSH D015831 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00572 CON00572 Osteogenesis Imperfecta Osteogenesis Imperfecta C0029434 MeSH D010013 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00573 CON00573 Ovarian Diseases Ovarian Diseases C0029928 MeSH D010049 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00574 CON00574 Pericardial Effusion Pericardial Effusion C0031039 MeSH D010490 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00575 CON00575 Phosphorus Metabolism Disorders Phosphorus Metabolism Disorders C0031707 MeSH D010760 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00577 CON00577 Pituitary Diseases Pituitary Diseases C0032002 MeSH D010900 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00578 CON00578 Polyhydramnios Polyhydramnios C0020224 MeSH D006831 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00579 CON00579 Polyneuropathy Polyneuropathy C0152025 MeSH D011115 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00045 CON00045 Mucopolysaccharidosis VII Mucopolysaccharidosis VII MPS VII Sly syndrome 94 C0085132 MeSH D016538 253220 611499 GUSB スライ症候群 MUCOPOLYSACCHARIDOSIS TYPE VII ムコ多糖症VII型 MPS VII MPS7 SLY SYNDROME BETA-GLUCURONIDASE DEFICIENCY GUSB DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. CON00052 CON00052 GM1-gangliosidosis, type II GM1-gangliosidosis, type II juvenile form Derry syndrome 54 C0268272 MeSH D016537 230600 611458 GLB1 GM1-ガングリオシドーシス2型 GM1-GANGLIOSIDOSIS, TYPE II 2型GM1ガングリオシドーシス GM1ガングリオシドβガラクトシダーゼ欠損症2 GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00056 CON00056 Tay-Sachs disease, infantile form Tay-Sachs disease, infantile form Acute infantile C0039373 MeSH D013661 272800 606869 HEXA Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00057 CON00057 Tay-Sachs disease, late-onset forms Tay-Sachs disease, late-onset forms Juvenile/Chronic/Adult-onset C0039373 MeSH D013661 272800 606869 HEXA CON00075 CON00075 Krabbe disease, late-onset form Krabbe disease, late-onset form C0268252 MeSH D007965 245200 606890 GALC CON00080 CON00080 Metachromatic leukodystrophy Metachromatic leukodystrophy 60 C0023522 MeSH D007966 250100 607574 ARSA 異染性白質ジストロフィー METACHROMATIC LEUKODYSTROPHY MLD METACHROMATIC LEUKOENCEPHALOPATHY CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM SULFATIDE LIPIDOSIS ARYLSULFATASE A DEFICIENCY ARSA DEFICIENCY CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00092 CON00092 Farber Lipogranulomatosis, type 1 Farber Lipogranulomatosis, type 1 C0268255 MeSH D055577 228000 613468 ASAH1 CON00093 CON00093 Farber Lipogranulomatosis, type 2 Farber Lipogranulomatosis, type 2 C0268255 MeSH D055577 228000 613468 ASAH1 CON00094 CON00094 Farber Lipogranulomatosis, type 3 Farber Lipogranulomatosis, type 3 C0268255 MeSH D055577 228000 613468 ASAH1 CON00095 CON00095 Farber Lipogranulomatosis, type 4 Farber Lipogranulomatosis, type 4 C0268255 MeSH D055577 228000 613468 ASAH1 CON00096 CON00096 Farber Lipogranulomatosis, type 5 Farber Lipogranulomatosis, type 5 C0268255 MeSH D055577 228000 613468 ASAH1 CON00329 CON00329 C0026697 MeSH D009081 CON00243 CON00243 Mucolipidoses Mucolipidoses C0026697 MeSH D009081 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00485 CON00485 Exostoses, Multiple Hereditary Exostoses, Multiple Hereditary Multiple Osteochondromas C0015306 MeSH D005097 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00581 CON00581 Protein-Losing Enteropathies Protein-Losing Enteropathies C0033680 MeSH D011504 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00026 CON00026 Mucolipidosis III (alpha/beta) Mucolipidosis III (alpha/beta) ML-III Pseudo-Hurler Polydystrophy 96 C0033788 MeSH D009081 252600 607840 GNPTAB 偽性ハーラー・ポリジストロフィー MUCOLIPIDOSIS III ALPHA/BETA ムコリピドーシスIII型 偽性Hurlerポリジストロフィー ML III ALPHA/BETA MUCOLIPIDOSIS IIIA ML IIIA MUCOLIPIDOSIS III ML III PSEUDO-HURLER POLYDYSTROPHY MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. CON00377 CON00377 POMGNT1-CDG (cong. muscular dystrophy spectrum) POMGNT1-CDG (cong. muscular dystrophy spectrum) Muscle-eye-brain disease (MEB) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3) 101 POMGNT1 C0457133 MeSH D058494 253280 606822 POMGNT1 MEB 病/サンタヴォリ病 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 MDDGA3 筋・眼・脳病 MEB 病 サンタヴォリ病 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00582 CON00582 Proteinuria Proteinuria C0033687 MeSH D011507 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00028 CON00028 Mucopolysaccharidosis I Mucopolysaccharidosis I MPS I C0023786 MeSH D008059 Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. CON00583 CON00583 Pseudotumor Cerebri Pseudotumor Cerebri C0033845 MeSH D011559 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00612 CON00612 Anemia, Dyserythropoietic, Congenital Anemia, Dyserythropoietic, Congenital C0002876 MeSH D000742 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00006 CON00006 Fucosidosis Fucosidosis 75 C0016788 MeSH D005645 230000 612280 FUCA1 フコシドーシス FUCOSIDOSIS ALPHA-L-FUCOSIDASE DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation. CON00018 CON00018 Other disorders of glycoprotein metabolism Other disorders of glycoprotein metabolism C0348493 ICD-10-CM E77.8 CON00024 CON00024 Defects in post-translational modification of lysosomal enzymes Defects in post-translational modification of lysosomal enzymes C0342845 ICD-10-CM E77.0 CON00027 CON00027 Disorders of glycosaminoglycan metabolism Disorders of glycosaminoglycan metabolism Defects in glycosaminoglycan degradation C0342837 ICD-10-CM E76 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. CON00035 CON00035 Sanfilippo syndrome B Sanfilippo syndrome B Mucopolysaccharidosis type IIIB MPS IIIB 87 C0086648 ICD-10-CM E76.22 252920 609701 NAGLU ムコ多糖症IIIB型 MUCOPOLYSACCHARIDOSIS TYPE IIIB サンフィリッポ病B型 サンフィリッポ症候群B型 MPS IIIB MPS3B SANFILIPPO SYNDROME B N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY NAGLU DEFICIENCY Mucopolysaccharidosis type 3B Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00036 CON00036 Sanfilippo syndrome C Sanfilippo syndrome C Mucopolysaccharidosis type IIIC MPS IIIC 88 C0086649 ICD-10-CM E76.22 252930 610453 HGSNAT ムコ多糖症IIIC型 MUCOPOLYSACCHARIDOSIS TYPE IIIC サンフィリッポ病C型 サンフィリッポ症候群C型 MPS IIIC MPS3C SANFILIPPO SYNDROME C ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY Mucopolysaccharidosis type 3C Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00042 CON00042 Maroteaux-Lamy syndrome, severe form Maroteaux-Lamy syndrome, severe form C0268216 ICD-10-CM E76.29 253200 611542 ARSB CON00043 CON00043 Maroteaux-Lamy syndrome, mild form Maroteaux-Lamy syndrome, mild form C0268218 ICD-10-CM E76.29 253200 611542 ARSB CON00046 CON00046 Disorders of sphingolipid metabolism and other lipid storage disorders Disorders of sphingolipid metabolism and other lipid storage disorders C0494338 ICD-10-CM E75 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation. CON00049 CON00049 Other gangliosidosis Other gangliosidosis C0348488 ICD-10-CM E75.19 CON00063 CON00063 Other sphingolipidosis Other sphingolipidosis C0348489 ICD-10-CM E75.2 CON00097 CON00097 Sphingolipidosis, unspecified Sphingolipidosis, unspecified ICD-10-CM E75.3 CON00099 CON00099 Other lipid storage disorders Other lipid storage disorders C0348490 ICD-10-CM E75.5 CON00101 CON00101 Other disorders of carbohydrate metabolism Other disorders of carbohydrate metabolism Congenital disorders of carbohydrate metabolism C0494336 ICD-10-CM E74 CON00130 CON00130 Cardiovascular Diseases Cardiovascular Diseases C0007222 MeSH D002318 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00133 CON00133 Central Nervous System Diseases Central Nervous System Diseases C0007682 MeSH D002493 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00138 CON00138 Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans C0027612 MeSH D009358 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00156 CON00156 Digestive System Diseases Digestive System Diseases C0012242 MeSH D004066 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00157 CON00157 Diseases Diseases C0012674 MeSH U000006 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00165 CON00165 Endocrine System Diseases Endocrine System Diseases C0014130 MeSH D004700 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00257 CON00257 Neoplasms Neoplasms C0027651 MeSH D009369 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00261 CON00261 Nervous System Diseases Nervous System Diseases C0027765 MeSH D009422 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00262 CON00262 Nervous System Malformations Nervous System Malformations C0497552 MeSH D009421 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00272 CON00272 Otorhinolaryngologic Diseases Otorhinolaryngologic Diseases C0029896 MeSH D010038 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00281 CON00281 Pathological Conditions, Signs and Symptoms Pathological Conditions, Signs and Symptoms C0039058 MeSH D013568 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00287 CON00287 Psychiatry and Psychology Psychiatry and Psychology C1256749 MeSH U000014 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00291 CON00291 Respiratory Tract Diseases Respiratory Tract Diseases C0035242 MeSH D012140 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00300 CON00300 Skin and Connective Tissue Diseases Skin and Connective Tissue Diseases C0175166 MeSH D017437 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00313 CON00313 Stomatognathic Diseases Stomatognathic Diseases C0038368 MeSH D009057 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00167 CON00167 Eye Diseases Eye Diseases C0015397 MeSH D005128 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00176 CON00176 Genetic Diseases, Inborn Genetic Diseases, Inborn C0950123 MeSH D030342 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00177 CON00177 Gingival Diseases Gingival Diseases C0017563 MeSH D005882 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00186 CON00186 Heart Diseases Heart Diseases C0018799 MeSH D006331 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00189 CON00189 Hematologic Diseases Hematologic Diseases C0018939 MeSH D006402 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00090 CON00090 Niemann-Pick disease, type C2 Niemann-Pick disease, type C2 71 C1843366 MeSH (SCR) C536119 607625 601015 NPC2 ニーマン・ピック病C2型 NIEMANN-PICK DISEASE, TYPE C2 Niemann-Pick病C2型 C2型ニーマン・ピック病 C2型Niemann-Pick病 CON00429 CON00429 PMM2-CDG, infantile multisystem stage PMM2-CDG, infantile multisystem stage C0349653 MeSH (SCR) C535739 212065 601785 PMM2 Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2015) PMM2-CDG (CDG-Ia). Initial Posting: 15 Aug 2005, Last Update: 29 Oct 2015, Accessed 23 Feb 2016. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00430 CON00430 PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage C0349653 MeSH (SCR) C535739 212065 601785 PMM2 Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2015) PMM2-CDG (CDG-Ia). Initial Posting: 15 Aug 2005, Last Update: 29 Oct 2015, Accessed 23 Feb 2016. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00431 CON00431 PMM2-CDG, adult stable disability stage PMM2-CDG, adult stable disability stage C0349653 MeSH (SCR) C535739 212065 601785 PMM2 Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2015) PMM2-CDG (CDG-Ia). Initial Posting: 15 Aug 2005, Last Update: 29 Oct 2015, Accessed 23 Feb 2016. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00347 CON00347 DPM1-CDG DPM1-CDG CDG-Ie Congenital disorder of glycosylation, type Ie 39 DPM1 C1837396 MeSH (SCR) C535743 608799 603503 DPM1 先天性糖鎖異常症Ie型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie CDG1E CDG Ie CDGIe Congenital disorder of glycosylation type 1E Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00354 CON00354 ALG9-CDG ALG9-CDG CDG-IL Congenital disorder of glycosylation, type IL 46 ALG9 C1837438 MeSH (SCR) C535750 608776 606941 ALG9 先天性糖鎖異常症Il型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il CDG1L CDG Il CDGIl Congenital disorder of glycosylation type 1L Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00355 CON00355 DOLK-CDG DOLK-CDG CDG-Im DK1-CDG Congenital disorder of glycosylation, type Im Dolichol kinase deficiency DK1 deficiency C1835849 MeSH (SCR) C563666 610768 610746 TMEM15 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im CDG1M Congenital disorder of glycosylation type 1M CDG Im CDGIm DOLICHOL KINASE DEFICIENCY DK1 DEFICIENCY Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 4 Defects in multiple glycosylation and other pathways. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00363 CON00363 SLC35A1-CDG SLC35A1-CDG CDG-IIf Congenital disorder of glycosylation, type IIf SLC35A1 C1970344 MeSH (SCR) C567040 603585 605634 SLC35A1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf CDG2F Congenital disorder of glycosylation type 2F CDG IIf CDGIIf Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00385 CON00385 Hereditary inclusion body myopathy type 2 Hereditary inclusion body myopathy type 2 GNE-CDG (hereditary inclusion body myopathy) Hereditary inclusion body myopathy type 2 (HIBM2) Inclusion body myopathy 2, autosomal recessive (IBM2) C1833373 MeSH (SCR) C538329 600737 603824 GNE INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE IBM2 Hereditary inclusion body myopathy type 2 HIBM2 INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING QSM Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00007 CON00007 Mannosidase deficiency diseases Mannosidase deficiency diseases C1257960 MeSH D044904 CON00012 CON00012 Sialidosis Sialidosis Mucolipidosis I Neuraminidase deficiency 78 C0268226 MeSH D009081 256550 608272 NEU1 シアリドーシス NEURAMINIDASE DEFICIENCY ノイラミニダーゼ欠損症 シアリダーゼ欠損症 SIALIDOSIS, TYPE II MUCOLIPIDOSIS I ML I LIPOMUCOPOLYSACCHARIDOSIS SIALIDASE DEFICIENCY GLYCOPROTEIN NEURAMINIDASE DEFICIENCY NEUG DEFICIENCY NEURAMINIDASE 1 DEFICIENCY NEU DEFICIENCY NEU1 DEFICIENCY SIALIDOSIS, TYPE I, INCLUDED CHERRY RED SPOT--MYOCLONUS SYNDROME, INCLUDED MYOCLONUS--CHERRY RED SPOT SYNDROME, INCLUDED Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation. CON00025 CON00025 Mucolipidosis II (alpha/beta) Mucolipidosis II (alpha/beta) ML-II I-cell disease N-Acetylglucosamine-1-phosphotransferase deficiency 95 C0020725 MeSH D009081 252500 607840 GNPTAB I-細胞病 MUCOLIPIDOSIS II ALPHA/BETA I-細胞病 ムコリピドーシスII型 MUCOLIPIDOSIS II ML II ML II ALPHA/BETA CELL DISEASE ICD Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00029 CON00029 Hurler syndrome Hurler syndrome Mucopolysaccharidosis type IH MPS1-H Pfaundler-Hurler syndrome Gargoylism, Hurler syndrome 82 C0086795 MeSH D008059 607014 252800 IDUA ハーラー症候群 HURLER SYNDROME Hurler症候群 MPS IH型 MUCOPOLYSACCHARIDOSIS TYPE IH MPS1-H Pfaundler-Hurler syndrome Gargoylism, Hurler syndrome Mucopolysaccharidosis type 1H Dysostosis multiplex syndrome Hurler's syndrome Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. CON00037 CON00037 Sanfilippo syndrome D Sanfilippo syndrome D Mucopolysaccharidosis type IIID MPS IIID 89 C0086650 MeSH D009084 252940 607664 GNS ムコ多糖症IIID型 MUCOPOLYSACCHARIDOSIS TYPE IIID サンフィリッポ病D型 サンフィリッポ症候群D型 MPS IIID SANFILIPPO SYNDROME D N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY Mucopolysaccharidosis type 3D Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00038 CON00038 Mucopolysaccharidosis IV Mucopolysaccharidosis IV MPS IV C0026707 MeSH D009085 Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. CON00039 CON00039 Morquio syndrome A Morquio syndrome A Mucopolysaccharidosis type IVA MPS IVA Morquio's syndrome, classic form Galactosamine-6-sulphatase deficiency 90 C0086651 MeSH D009085 253000 612222 GALNS モルキオ症候群A型 MUCOPOLYSACCHARIDOSIS TYPE IVA Morquio症候群Type A MORQUIO SYNDROME A MPS IVA MPS4A MORQUIO A DISEASE GALACTOSAMINE-6-SULFATASE DEFICIENCY GALNS DEFICIENCY Mucopolysaccharidosis type 4A Morquio's syndrome, classic form Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00040 CON00040 Morquio syndrome B Morquio syndrome B Mucopolysaccharidosis type IVB MPS IVB Morquio-like syndrome 91 C0086652 MeSH D009085 253010 611458 GLB1 モルキオ症候群B型 MUCOPOLYSACCHARIDOSIS TYPE IVB Morquio症候群Type B MORQUIO SYNDROME B MPS IVB MPS4B Mucopolysaccharidosis type 4B Morquio-like syndrome Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00041 CON00041 Mucopolysaccharidosis VI Mucopolysaccharidosis VI MPS VI, Maroteaux-Lamy syndrome 93 113 C0026709 MeSH D009087 253200 611542 ARSB ムコ多糖症VI型 MUCOPOLYSACCHARIDOSIS TYPE VI モロト-ラミー症候群 Moroteaux-Lamy症候群 MPS VI型 MPS VI MPS6 MAROTEAUX-LAMY SYNDROME ARYLSULFATASE B DEFICIENCY ARSB DEFICIENCY N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses. Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54. CON00190 CON00190 Hemic and Lymphatic Diseases Hemic and Lymphatic Diseases C0018981 MeSH D006425 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00332 CON00332 Carbohydrate Metabolism, Inborn Errors Carbohydrate Metabolism, Inborn Errors C0007001 MeSH D002239 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00333 CON00333 Congenital Disorders of Glycosylation Congenital Disorders of Glycosylation C0282577 MeSH D018981 U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00334 CON00334 Pathogenesis Pathogenesis Pathogenic aspects C0543483 MeSH Q000209 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. CON00228 CON00228 Male Urogenital Diseases Male Urogenital Diseases C1720894 MeSH D052801 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00426 CON00426 Lysosomal Storage Diseases Lysosomal Storage Diseases Lysosomal Enzyme Disorders C0085078 MeSH D016464 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00365 CON00365 COG8-CDG COG8-CDG CDG-IIh Congenital disorder of glycosylation, type IIh COG8 deficiency C1970021 MeSH (SCR) C566987 611182 606979 COG8 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh CDG2H Congenital disorder of glycosylation type 2H CDG IIh CDGIIh Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 4 Defects in multiple glycosylation and other pathways. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00371 CON00371 ATP6VOA2-CDG ATP6VOA2-CDG V-ATPase a2 subunit defect ATP6VOA2 defect (cutis laxa type II) Cutis laxa, autosomal recessive, type IIA (ARCL2A) Debre-Type cutis laxa C0268355 MeSH (SCR) C562632 219200 611716 ATP6V0A2 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA ARCL2A ARCL2 CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY CUTIS LAXA, DEBRE TYPE CUTIS LAXA WITH BONE DYSTROPHY CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 4 Defects in multiple glycosylation and other pathways. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00343 CON00343 PMM2-CDG PMM2-CDG CDG-Ia Congenital disorder of glycosylation, type Ia Jaeken syndrome Phosphomannomutase 2 deficiency 35 C0349653 MeSH (SCR) C535739 212065 601785 PMM2 先天性糖鎖異常症Ia型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia CDG1A CDG Ia CDGIa JAEKEN SYNDROME PHOSPHOMANNOMUTASE 2 DEFICIENCY CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY Congenital disorder of glycosylation type 1A Carbohydrate-deficient glycoprotein syndrome type 1A Carbohydrate-Deficient Glycoprotein Syndrome Type Ia Congenital Disorder of Glycosylation Type Ia Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00344 CON00344 MPI-CDG MPI-CDG CDG-Ib Congenital disorder of glycosylation, type Ib Mannosephosphate isomerase deficiency Protein-losing enteropathy-hepatic fibrosis syndrome Saguenay-Lac Saint-Jean syndrome 36 C1865145 MeSH (SCR) C535740 602579 154550 MPI 先天性糖鎖異常症Ib型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib CDG1B CDG Ib CDGIb CDG, GASTROINTESTINAL TYPE MANNOSEPHOSPHATE ISOMERASE DEFICIENCY MPI DEFICIENCY PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME SAGUENAY-LAC SAINT-JEAN SYNDROME SLSJ SYNDROME Congenital disorder of glycosylation type 1B Carbohydrate-deficient glycoprotein syndrome type 1B Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00345 CON00345 ALG6-CDG ALG6-CDG CDG-Ic Congenital disorder of glycosylation, type Ic 37 ALG6 C1864178 MeSH (SCR) C535741 603147 604566 ALG6 先天性糖鎖異常症Ic型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic CDG1C CDG Ic CDGIc CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V, FORMERLY CDGS5, FORMERLY Congenital disorder of glycosylation type 1C Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00346 CON00346 ALG3-CDG ALG3-CDG CDG-Id Congenital disorder of glycosylation, type Id 38 ALG3 C1832736 MeSH (SCR) C535742 601110 608750 ALG3 先天性糖鎖異常症Id型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id CDG1D CDG Id CDGId CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY CDGS4, FORMERLY CDGS, TYPE IV, FORMERLY Congenital disorder of glycosylation type 1D Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00348 CON00348 MPDU1-CDG MPDU1-CDG CDG-If Congenital disorder of glycosylation, type If 40 C1836669 MeSH (SCR) C535744 609180 604041 MPDU1 先天性糖鎖異常症If型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If CDG1F CDG If CDGIf Congenital disorder of glycosylation type 1F Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00349 CON00349 ALG12-CDG ALG12-CDG CDG-Ig Congenital disorder of glycosylation, type Ig 41 ALG12 C2931001 MeSH (SCR) C535745 607143 607144 ALG12 先天性糖鎖異常症Ig型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig CDG1G CDG Ig CDGIg Congenital disorder of glycosylation type 1G Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00350 CON00350 ALG8-CDG ALG8-CDG CDG-Ih Congenital disorder of glycosylation, type Ih 42 ALG8 C2931002 MeSH (SCR) C535746 608104 608103 ALG8 先天性糖鎖異常症Ih型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih CDG1H CDG Ih CDGIh Congenital disorder of glycosylation type 1H Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00351 CON00351 ALG2-CDG ALG2-CDG CDG-Ii Congenital disorder of glycosylation, type Ii 43 ALG2 C1842836 MeSH (SCR) C535747 607906 607905 ALG2 先天性糖鎖異常症Ii型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii CDG1I CDG Ii CDGIi Congenital disorder of glycosylation type 1I Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00352 CON00352 DPAGT1-CDG DPAGT1-CDG CDG-Ij Congenital disorder of glycosylation, type Ij 44 DPAGT1 C2931004 MeSH (SCR) C535748 608093 191350 DPAGT1 先天性糖鎖異常症Ij型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij CDG1J CDG Ij CDGIj Congenital disorder of glycosylation type 1J Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00353 CON00353 ALG1-CDG ALG1-CDG CDG-Ik Congenital disorder of glycosylation, type Ik 45 ALG1 C2931005 MeSH (SCR) C535749 608540 605907 ALG1 先天性糖鎖異常症Ik型 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik CDG1K CDG Ik CDGIk Congenital disorder of glycosylation type 1K Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00386 CON00386 Nonaka myopathy Nonaka myopathy Nonaka myopathy (NM) Distal myopathy, Nonaka type Distal myopathy with rimmed vacuoles (DMRV) 100 C1853926 MeSH (SCR) C536816 605820 603824 GNE 縁取り空砲型遠位型ミオパチー NONAKA MYOPATHY NM 遺伝性封入体ミオパチー リムドバキュオル型遠位型ミオパチー NONAKA DISTAL MYOPATHY MYOPATHY, DISTAL, WITH RIMMED VACUOLES DMRV Distal myopathy with rimmed vacuoles Distal myopathy, Nonaka type Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00388 CON00388 B4GALT7-CDG B4GALT7-CDG Ehlers-Danlos syndrome, progeroid form Ehlers-Danlos syndrome, progeroid type, 1 Galactosyltransferase 1 deficiency B4GALT7 C1869122 MeSH (SCR) C536201 130070 604327 B4GALT7 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 EDSP1 Progeroid variant of Ehlers-Danlos syndrome PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF PDS, DEFECTIVE BIOSYNTHESIS OF DERMATAN SULFATE PROTEOGLYCAN XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY XGPT DEFICIENCY GALACTOSYLTRANSFERASE I DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00393 CON00393 Spondyloepimetaphyseal dysplasia, pakistani type Spondyloepimetaphyseal dysplasia, pakistani type SEMD, pakistani type Brachyolmia 4 with mild epiphyseal and metaphyseal changes C2748515 MeSH (SCR) C567551 612847 603005 PAPSS2 BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE SEMD, PAKISTANI TYPE SPONDYLODYSPLASIA AND PREMATURE PUBARCHE Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00395 CON00395 Diastrophic dysplasia Diastrophic dysplasia Diastrophic dwarfism C0220726 MeSH (SCR) C536170 222600 606718 SLC26A2 DIASTROPHIC DYSPLASIA Diastrophic dwarfism DTD DD DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00396 CON00396 Achondrogenesis type IB Achondrogenesis type IB ACG1B Achondrogenesis, Fraccaro type C0265274 MeSH (SCR) C536016 600972 606718 SLC26A2 ACHONDROGENESIS, TYPE IB ACG1B Fraccaro achondrogenesis ACHONDROGENESIS, FRACCARO TYPE Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00397 CON00397 Neonatal osseous dysplasia I Neonatal osseous dysplasia I Atelosteogenesis, type II (AOII) C1850554 MeSH (SCR) C535395 256050 606718 SLC26A2 ATELOSTEOGENESIS, TYPE II AOII Atelosteogenesis de la Chapelle type AO2 NEONATAL OSSEOUS DYSPLASIA I DE LA CHAPELLE DYSPLASIA, INCLUDED DLCD, INCLUDED Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00398 CON00398 Autosomal recessive multiple epiphyseal dysplasia Autosomal recessive multiple epiphyseal dysplasia Epiphyseal dysplasia, multiple, 4 (EDM4) C1847593 MeSH (SCR) C535504 226900 606718 SLC26A2 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 EDM4 MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00399 CON00399 SLC35D1-CDG SLC35D1-CDG Schneckenbecken dysplasia Chondrodysplasia, lethal neonatal, with snail-like pelvis SLC35D1 C0432194 MeSH (SCR) C536637 269250 610804 SLC35D1 SCHNECKENBECKEN DYSPLASIA CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 2 Defects in protein O-glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00402 CON00402 GALNT3-CDG GALNT3-CDG Tumoral calcinosis, hyperphosphatemic, familial GALNT3 C1876187 MeSH (SCR) C566870 211900 601756 GALNT3 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL HFTC TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA PHPTC LIPOCALCINOGRANULOMATOSIS TEUTSCHLAENDER DISEASE, FAMILIAL MORBUS TEUTSCHLAENDER HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME HHS HYPEROSTOSIS WITH HYPERPHOSPHATEMIA CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 2 Defects in protein O-glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00404 CON00404 B3GALTL-CDG B3GALTL-CDG Peters-plus syndrome Krause-Kivlin syndrome Peters anomaly with short limb dwarfism B3GALTL C0796012 MeSH (SCR) C537617 261540 610308 B3GALTL PETERS-PLUS SYNDROME Peters plus syndrome KRAUSE-KIVLIN SYNDROME PETERS ANOMALY WITH SHORT-LIMB DWARFISM Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 2 Defects in protein O-glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00405 CON00405 LFNG-CDG LFNG-CDG Spondylocostal dysostosis 3, autosomal recessive SCDO3 LFNG C1853296 MeSH (SCR) C535781 609813 602576 LFNG SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE SCDO3 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00407 CON00407 Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, type VI Nevo syndrome Ehlers-Danlos syndrome, kyphoscoliotic type 109 111 C0268342 MeSH (SCR) C536198 225400 153454 PLOD1 エーラスダンロス症候群VIA型 EHLERS-DANLOS SYNDROME, TYPE VI EDS6 エーラスダンロス症候群VIA型 エーラース･ダンロス症候群VIA型 Nevo症候群 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE EDS VI EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE NEVO SYNDROME EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY EDS6A, FORMERLY Ehlers-Danlos syndrome, type 6 Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Wopereis S, Lefeber DJ, Morava E, Wevers RA (2006) Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem 52(4):574-600. CON00408 CON00408 Bruck syndrome 2 Bruck syndrome 2 BRKS2 Osteogenesis imperfecta with congenital joint contractures 110 C1836602 MeSH (SCR) C537407 609220 601865 PLOD2 ブルック症候群 BRUCK SYNDROME 2 BRKS2 OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00412 CON00412 ST3GAL5-CDG ST3GAL5-CDG Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic GM3 Synthase deficiency ST3GAL5 C1836824 MeSH (SCR) C563799 609056 604402 SIAT9 AMISH INFANTILE EPILEPSY SYNDROME EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC GM3 SYNTHASE DEFICIENCY Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 3 Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00415 CON00415 PIGM-CDG PIGM-CDG Glycosylphosphatidylinositol deficiency Autosomal recessive GPI anchor deficiency C1853205 MeSH (SCR) C537277 610293 610273 PIGM GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY GPI DEFICIENCY Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Table 3 Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00389 CON00389 EXT1/EXT2-CDG EXT1/EXT2-CDG Hereditary multiple exostoses (HME) Hereditary multiple osteochondromas (HMO) Multiple cartilaginous exostoses Exostoses, multiple, type 1 Exostoses, multiple, type 2 C0015306,C1851413 MeSH (SCR) D005097,C538356 133700,133701 608177,608210 EXT1,EXT2 EXOSTOSES, MULTIPLE, TYPE I and TYPE II EXT EXT2 Exostoses, multiple, type 1 Exostoses, multiple, type 2 HME HMO EXT1 MULTIPLE CARTILAGINOUS EXOSTOSES DIAPHYSEAL ACLASIS MULTIPLE OSTEOCHONDROMAS OSTEOCHONDROMATOSIS Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00391 CON00391 Macular corneal dystrophy Macular corneal dystrophy Macular corneal dystrophy Type I Macular corneal dystrophy Type II CHST6 C1636149,C1691013 MeSH (SCR) C537834,C563270 217800 605294 CHST6 MACULAR DYSTROPHY, CORNEAL, 1 MCDC1 MCD CORNEAL DYSTROPHY, MACULAR TYPE GROENOUW TYPE II CORNEAL DYSTROPHY MACULAR CORNEAL DYSTROPHY, TYPE I MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. CON00401 CON00401 Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) Tn polyagglutination syndrome, somatic (SOMATIC MUTATION) Tn syndrome (SOMATIC MUTATION) Galactosyltransferase Deficiency C1GALT1C1 C0272137 MeSH (SCR) C562719 300622 300611 C1GALT1C1 TN POLYAGGLUTINATION SYNDROME TNPS GALACTOSYLTRANSFERASE DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672. Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464. Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. CON00409 CON00409 Lysyl hydroxylase 3 deficiency Lysyl hydroxylase 3 deficiency Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency 108 C2676285 MeSH (SCR) C567320 612394 603066 PLOD3 リジルヒドロキシラーゼ3 欠損症 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS LYSYL HYDROXYLASE 3 DEFICIENCY LH3 DEFICIENCY Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. CON00443 CON00443 Arthrogryposis Arthrogryposis C0003886 MeSH D001176 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00464 CON00464 Corneal Dystrophies, Hereditary Corneal Dystrophies, Hereditary C0010035 MeSH D003317 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00469 CON00469 Dislocations Dislocations Joint dislocations C0012691 MeSH D004204 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00473 CON00473 Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome C0013720 MeSH D004535 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00477 CON00477 Epilepsies, Myoclonic Epilepsies, Myoclonic C0014550 MeSH D004831 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00481 CON00481 Esophageal Motility Disorders Esophageal Motility Disorders C0014858 MeSH D015154 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00486 CON00486 Exotropia Exotropia C0015310 MeSH D005099 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00491 CON00491 Failure to Thrive Failure to Thrive C0015544 MeSH D005183 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00495 CON00495 Foot Deformities, Congenital Foot Deformities, Congenital C0016508 MeSH D005532 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00499 CON00499 Genu Valgum Genu Valgum Knee joint valgus deformity C0576093 MeSH D056304 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00503 CON00503 Hand Deformities, Congenital Hand Deformities, Congenital C0018566 MeSH D006228 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00507 CON00507 Hemorrhage Hemorrhage Bleeding C0019080 MeSH D006470 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00512 CON00512 Hyperandrogenism Hyperandrogenism C0206081 MeSH D017588 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00516 CON00516 Hyperphosphatemia Hyperphosphatemia C0085681 MeSH D054559 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00520 CON00520 Hypertension, Portal Hypertension, Portal C0020541 MeSH D006975 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00524 CON00524 Hypoproteinemia Hypoproteinemia C0020639 MeSH D007019 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00528 CON00528 Hypoventilation Hypoventilation C3203358 MeSH D007040 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00534 CON00534 Intracranial Aneurysm Intracranial Aneurysm C0007766 MeSH D002532 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00538 CON00538 Kidney Diseases, Cystic Kidney Diseases, Cystic C1691228 MeSH D052177 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00542 CON00542 Leukocytosis Leukocytosis C0023518 MeSH D007964 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00546 CON00546 Lordosis Lordosis C0024003 MeSH D008141 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00550 CON00550 Microphthalmos Microphthalmos C0026010 MeSH D008850 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00555 CON00555 Neoplasms, Bone Tissue Neoplasms, Bone Tissue C0206639 MeSH D018213 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00559 CON00559 Nephrosis Nephrosis C0027720 MeSH D009401 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00563 CON00563 Nystagmus, Congenital Nystagmus, Congenital C0700501 MeSH D020417 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00567 CON00567 Optic Nerve Diseases Optic Nerve Diseases C0029132 MeSH D009901 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00571 CON00571 Osteochondromatosis Osteochondromatosis C0206641 MeSH D018216 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00576 CON00576 Photophobia Photophobia C0085636 MeSH D020795 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00580 CON00580 Pregnancy Complications Pregnancy Complications C0032962 MeSH D011248 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00320 CON00320 Tremor Tremor C0040822 MeSH D014202 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. CON00326 CON00326 Vision, Low Vision, Low C0042798 MeSH D015354 U.S. National Library of Medicine, Unified Medical Language System (UMLS) (2009) UMLS Knowledge Sources. http://www.nlm.nih.gov/research/umls/. Accessed 23 Feb 2016. U.S. National Library of Medicine, Medical Subject Headings (MeSH) (1999) The NLM's curated medical vocabulary resource. http://www.nlm.nih.gov/mesh/. Accessed 23 Feb 2016. ISBN:9780444527462 Comprehensive Glycoscience. From Chemistry to Systems Biology Elsevier, Oxford 2007 2007 ISBN:9780444527462 Comprehensive Glycoscience. From Chemistry to Systems Biology Elsevier, Oxford Diseases Associated with Carbohydrates/Glycoconjugates 2007 2007 4 339 372 ISBN:9780444527462 Comprehensive Glycoscience. From Chemistry to Systems Biology Elsevier, Oxford Diseases Associated with Carbohydrates/Glycoconjugates Table 1 Genetic defects in the human glycome 2007 2007 4 339 372 ISBN:9780879697709 Essentials of glycobiology, 2nd ed Cold Spring Harbor Laboratory Press, New York 2009 2009 ISBN:9780879697709 Essentials of glycobiology, 2nd ed Cold Spring Harbor Laboratory Press, New York Genetic disorders of glycan degradation 2009 2009 567 583 ISBN:9780879697709 Essentials of glycobiology, 2nd ed Cold Spring Harbor Laboratory Press, New York Genetic disorders of glycan degradation Table 41.1 Defects in glycoprotein degradation 2009 2009 567 583 ISBN:9780879697709 Essentials of glycobiology, 2nd ed Cold Spring Harbor Laboratory Press, New York Genetic disorders of glycan degradation Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses 2009 2009 567 583 ISBN:9780879697709 Essentials of glycobiology, 2nd ed Cold Spring Harbor Laboratory Press, New York Genetic disorders of glycan degradation Table 41.3 Defects in glycolipid degradation 2009 2009 567 583 ISBN:9780879697709 Essentials of glycobiology, 2nd ed Cold Spring Harbor Laboratory Press, New York Genetic Disorders of Glycosylation 2009 2009 585 600 ISBN:9780879697709 Essentials of glycobiology, 2nd ed Cold Spring Harbor Laboratory Press, New York Genetic Disorders of Glycosylation Table 42.1 Genetic defects of glycan synthesis in humans 2009 2009 585 600 ISSN:2372-0697 GeneReviews University of Washington, Seattle ISSN:2372-0697 GeneReviews University of Washington, Seattle Congenital Disorders of N-linked Glycosylation Pathway Overview 2014 2014 ISSN:2372-0697 GeneReviews University of Washington, Seattle Congenital Disorders of N-linked Glycosylation Pathway Overview Table 1 CDG: Molecular Genetics 2014 2014 ISSN:2372-0697 GeneReviews University of Washington, Seattle Glycogen Storage Disease Type II (Pompe Disease) 2013 2013 ISSN:2372-0697 GeneReviews University of Washington, Seattle Fukuyama Congenital Muscular Dystrophy 2012 2012 ISSN:2372-0697 GeneReviews University of Washington, Seattle Mucolipidosis II 2012 2012 ISSN:2372-0697 GeneReviews University of Washington, Seattle Mucolipidosis III Alpha/Beta 2012 2012 ISSN:2372-0697 GeneReviews University of Washington, Seattle Mucopolysaccharidosis Type I 2016 2016 ISSN:2372-0697 GeneReviews University of Washington, Seattle Mucopolysaccharidosis Type II 2015 2015 16755287 Nat Rev Genet Genetic defects in the human glycome. 2006 2006 7 7 537 551 16755287 Nat Rev Genet Table 1 Glycan classes: functions and biosynthesis Table 1 Glycan classes: functions and biosynthesis 2006 2006 7 7 537 551 16755287 Nat Rev Genet Genetic defects in the human glycome. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways 2006 2006 7 7 537 551 16755287 Nat Rev Genet Genetic defects in the human glycome. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways 2006 2006 7 7 537 551 18949576 J Inherit Metab Dis On the nomenclature of congenital disorders of glycosylation. 2008 2008 31 6 669 672 18949576 J Inherit Metab Dis On the nomenclature of congenital disorders of glycosylation. Table 1 Defects in protein N-glycosylation 2008 2008 31 6 669 672 18949576 J Inherit Metab Dis On the nomenclature of congenital disorders of glycosylation. Table 2 Defects in protein O-glycosylation 2008 2008 31 6 669 672 18949576 J Inherit Metab Dis On the nomenclature of congenital disorders of glycosylation. Table 3 Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 2008 2008 31 6 669 672 18949576 J Inherit Metab Dis On the nomenclature of congenital disorders of glycosylation. Table 4 Defects in multiple glycosylation and other pathways 2008 2008 31 6 669 672 19765534 Biochim Biophys Acta CDG nomenclature: Time for a change. 2009 2009 1792 9 825 826 19765534 Biochim Biophys Acta CDG nomenclature: Time for a change. Table 1 Proposed nomenclature for CDG 2009 2009 1792 9 825 826 16497938 Clin Chem Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. 2006 2006 52 4 574 600 Medical Subject Headings (MeSH) U.S. National Library of Medicine The NLM's curated medical vocabulary resource 1999 1999 http://www.nlm.nih.gov/mesh/ 22422206 Semin Neurol Lysosomal disorders associated with leukoencephalopathy. 2012 2012 32 1 51 54 21744090 J Inherit Metab Dis Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. 2011 2011 34 6 1183 1197 19339383 Pediatr Rev Inborn errors of metabolism: part 2: specific disorders. 2009 2009 30 4 e22 e28 ISSN:2372-0697 GeneReviews University of Washington, Seattle Congenital Muscular Dystrophy Overview 2012 2012 ISSN:2372-0697 GeneReviews University of Washington, Seattle ATP6V0A2-Related Cutis Laxa 2015 2015 ISSN:2372-0697 GeneReviews University of Washington, Seattle Achondrogenesis Type 1B 2013 2013 ISSN:2372-0697 GeneReviews University of Washington, Seattle Alpha-Mannosidosis 2012 2012 ISSN:2372-0697 GeneReviews University of Washington, Seattle Fabry Disease 2013 2013 ISSN:2372-0697 GeneReviews University of Washington, Seattle GNE-Related Myopathy 2013 2013 ISSN:2372-0697 GeneReviews University of Washington, Seattle Gaucher Disease 2015 2015 ISSN:2372-0697 GeneReviews University of Washington, Seattle Krabbe Disease 2011 2011 ISSN:2372-0697 GeneReviews University of Washington, Seattle Limb-Girdle Muscular Dystrophy Overview 2012 2012 ISSN:2372-0697 GeneReviews University of Washington, Seattle Mucopolysaccharidosis Type IVA 2014 2014 ISSN:2372-0697 GeneReviews University of Washington, Seattle Niemann-Pick Disease Type C 2013 2013 ISSN:2372-0697 GeneReviews University of Washington, Seattle PMM2-CDG (CDG-Ia) 2015 2015 ISSN:2372-0697 GeneReviews University of Washington, Seattle Peters Plus Syndrome 2014 2014 Online Mendelian Inheritance in Man (OMIM) Johns Hopkins University An Online Catalog of Human Genes and Genetic Disorders http://omim.org/ Genetics Home Reference U.S. National Library of Medicine Your Guide to Understanding Genetic Conditions http://ghr.nlm.nih.gov/condition/ Genetic and Rare Diseases Information Center (GARD) National Institutes of Health Diseases by Category http://rarediseases.info.nih.gov/gard/categories/ ISBN:9780123736000 Handbook of Glycomics Elsevier 2009 2009 ISBN:9780123736000 Handbook of Glycomics Elsevier Introduction to Human Glycosylation Disorders 2009 2009 431 464 19007883 Biochim Biophys Acta From glycosylation disorders back to glycosylation: what have we learned? 2009 2009 1792 9 921 924 22343051 Biochim Biophys Acta Diseases of glycosylation beyond classical congenital disorders of glycosylation. 2012 2012 1820 9 1306 1317 22343051 Biochim Biophys Acta Diseases of glycosylation beyond classical congenital disorders of glycosylation. Table 1 Diseases of glycosylation 2012 2012 1820 9 1306 1317 19862844 Hum Mutat Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. 2009 2009 30 12 1628 1641 19862844 Hum Mutat Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Table 1 Gene Defects Leading to Deficient Assembly of Dolichol-Linked Oligosaccharides 2009 2009 30 12 1628 1641 Unified Medical Language System (UMLS) U.S. National Library of Medicine UMLS Knowledge Sources 2009 2009 http://www.nlm.nih.gov/research/umls/ 22492991 Hum Mol Genet Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 2012 2012 21 19 4151 4161 Genetic Testing Registry (GTR) U.S. National Library of Medicine Genetic test information http://www.ncbi.nlm.nih.gov/gtr/ 16959566 Cell Glycosylation in Cellular Mechanisms of Health and Disease. 2006 2006 126 5 855 867 17716641 Clin Chim Acta Screening and diagnosis of congenital disorders of glycosylation. 2007 2007 385 1-2 6 20 23148162 Ther Adv Endocrinol Metab Therapeutic approaches for lysosomal storage diseases. 2010 2010 1 4 177 188 15647514 Glycobiology Lysosomal metabolism of glycoproteins. 2005 2005 15 6 1R 15R