イソトレチノイン胎芽病様症候群
type: Disease
type: C7057
has inheritance: HP_0000007

14q32 重複症候群, 700-kb
type: Disease
type: C7057
has inheritance: HP_0000006

Jacobsen 症候群
type: Disease
type: C7057
has inheritance: HP_0003745

IVIC 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Johnson 神経外胚葉症候群
type: Disease
type: C7057
has inheritance: HP_0000006

高 IgE 性反復性感染症候群 1, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

高ビリルビン血症, 一過性家族性新生児
type: Disease
type: C7057
has inheritance: HP_0000007

Long-chain hydroxyacyl-CoA dehydrogenase 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

下肢欠損変形-先天性白内障
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺-網膜萎縮-ニューロパチー
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺44, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

口唇口蓋裂-母指異常-小頭
type: Disease
type: C7057
has inheritance: HP_0000007

有馬症候群
type: Disease
type: C7057
has inheritance: HP_0000007

眼白子-遅発性感音性難聴
type: Disease
type: C7057
has inheritance: HP_0001417

血管腫-血小板減少症候群
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺 9A, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003743

低身長-短指症-知的発達障害-けいれん
type: Disease
type: C7057
has inheritance: HP_0000007

Kapur-Toriello 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

骨粗鬆症-疎な毛髪
type: Disease
type: C7057
has inheritance: HP_0000007

副甲状腺機能低下症-遅滞-形態異常症候群 (HRD)
type: Disease
type: C7057
has inheritance: HP_0000007

裂手-先天性眼振-眼底変化-白内障
type: Disease
type: C7057
has inheritance: HP_0000006

Haim- Munk 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

掌蹠角皮症-先天性禿頭1
type: Disease
type: C7057
has inheritance: HP_0000006

禿頭-精神運動てんかん-膿漏-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

毛嚢性角化症-小人症-大脳萎縮
type: Disease
type: C7057
has inheritance: HP_0001417

筋ジストロフィー, 肢帯型, 常染色体優性3
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー, 肢帯型, 常染色体優性2
type: Disease
type: C7057
has inheritance: HP_0000006

禿頭-関節拘縮-小人症-精神遅滞症候群
type: Disease
type: C7057
has inheritance: HP_0000007

角膜炎, 遺伝性
type: Disease
type: C7057
has inheritance: HP_0000006

頭皮欠損-軸後性多指症
type: Disease
type: C7057
has inheritance: HP_0000006

免疫不全40
type: Disease
type: C7057
has inheritance: HP_0000007

KBG 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

2q37 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006

減毛症-反復性皮膚小水疱
type: Disease
type: C7057
has inheritance: HP_0000007

Schilbach-Rott 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

先天性黒内障, 錐体桿体型-先天性多毛
type: Disease
type: C7057
has inheritance: HP_0000007

平滑筋腫症, びまん性-アルポート症候群
type: Disease
type: C7057
has inheritance: HP_0001417

リポジストロフィー, 家族性, 部分、2型
type: Disease
type: C7057
has inheritance: HP_0000006

様異形成, 致死性
type: Disease
type: C7057
has inheritance: HP_0000007

Klippel-Trenaunay-Weber 症候群
type: Disease
type: C7057
has inheritance: HP_0003745

禿頭-精神遅滞症候群-けいれん-高ゴナドトロピン性性腺機能低下症
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001419

クローバー葉様頭蓋症候群
type: Disease
type: C7057

下垂体ホルモン欠損症, 混合性, 3
type: Disease
type: C7057
has inheritance: HP_0000007

涙耳歯指趾症候群 (LADD)
type: Disease
type: C7057
has inheritance: HP_0000006

二塩基アミノ酸尿症 I
type: Disease
type: C7057
has inheritance: HP_0000007

エナメル質形成不全 IG型)
type: Disease
type: C7057
has inheritance: HP_0000007

エナメル質-爪-低汗症候群
type: Disease
type: C7057
has inheritance: HP_0000006

無肢症, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

無爪症-爪ジストロフィー-B型短指症-欠指症
type: Disease
type: C7057
has inheritance: HP_0000006

裂足奇形-軸中性多趾症
type: Disease
type: C7057
has inheritance: HP_0000007

先天性全身性多毛, Ambras 型 (HTC1)
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺-精神運動発達遅滞 +/- けいれん
type: Disease
type: C7057
has inheritance: HP_0000007

低リン血症性くる病-高カルシウム尿症, 遺伝性
type: Disease
type: C7057
has inheritance: HP_0000007

アデノシン・トリフォスファターゼ欠損症による貧血
type: Disease
type: C7057
has inheritance: HP_0000006

喉頭内転筋麻痺
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001419

喉頭帯, 家族性
type: Disease
type: C7057
has inheritance: HP_0000006

喉頭軟化症
type: Disease
type: C7057
has inheritance: HP_0000006

Larsen 様症候群, 致死型
type: Disease
type: C7057
has inheritance: HP_0000007

Larsen 様症候群 (LRSL)
type: Disease
type: C7057
has inheritance: HP_0003745

腹壁破裂
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001426

メルカプト乳酸-システインジスルフィド尿症 (MCDU)
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, 軸索性 型 2O
type: Disease
type: C7057
has inheritance: HP_0000006

角膜感覚過敏-網膜異常-感音性難聴-顔貌異常-PDA-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

大頭-てんかん性脳症
type: Disease
type: C7057
has inheritance: HP_0000007

Legg-Calve-Perthes 病
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001426

無脳症
type: Disease
type: C7057
has inheritance: HP_0000007

Waisman 症候群
type: Disease
type: C7057
has inheritance: HP_0001419

Laurin-Sandrow 症候群 (LSS)
type: Disease
type: C7057
has inheritance: HP_0000006

Laurence- Moon 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

溶血性貧血, 致死性先天性非球状赤血球性-性器その他の奇形
type: Disease
type: C7057
has inheritance: HP_0000006

血栓嗜好症, histidine-rich 糖タンパク欠損
type: Disease
type: C7057
has inheritance: HP_0000006

混合性サポニン欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

Gillespie 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

脳頭蓋皮膚脂肪腫症
type: Disease
type: C7057
has inheritance: HP_0001442
has inheritance: HP_0003745

無虹彩, 部分的-片側性腎無形成-精神運動発達遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

Dihydrolipoamide dehydrogenase 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

血管腫, 遺伝性神経皮膚
type: Disease
type: C7057
has inheritance: HP_0000006

肋骨烏口靭帯短縮, 先天性
type: Disease
type: C7057
has inheritance: HP_0000006

Lichtenstein 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

青色ゴムまり様母斑症候群
type: Disease
type: C7057
has inheritance: HP_0000006

舞踏病有棘赤血球症
type: Disease
type: C7057
has inheritance: HP_0000007

永久歯臼歯の二次性遺残
type: Disease
type: C7057
has inheritance: HP_0000006

認知症, 家族性デンマーク人 (FDD)
type: Disease
type: C7057
has inheritance: HP_0000006

大脳アミロイド血管症, ITM2B-関連, 1
type: Disease
type: C7057
has inheritance: HP_0000006

Hunter-McAlpine 頭蓋縫合早期癒合症候群
type: Disease
type: C7057
has inheritance: HP_0000006

先天性糸状眼瞼癒着-口蓋裂
type: Disease
type: C7057
has inheritance: HP_0000006

眼瞼癒着-外胚葉異常-口唇口蓋裂
type: Disease
type: C7057
has inheritance: HP_0000006

視神経萎縮 1 (OPA1)
type: Disease
type: C7057
has inheritance: HP_0000006

無虹彩症-膝蓋骨欠損
type: Disease
type: C7057
has inheritance: HP_0000006

眼瞼コロボーマ-脂肪腫症候群
type: Disease
type: C7057
has inheritance: HP_0000006

脂肪腫症, 多発性対称性
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳性運動失調, 常染色体劣性10
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳性失調, 常染色体劣性12
type: Disease
type: C7057
has inheritance: HP_0000007

リボフラビン欠乏症
type: Disease
type: C7057
has inheritance: HP_0000006

15q26 テトラソミー
type: Disease
type: C7057

母指硬直-A1型短指症-発達遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳性運動失調, 常染色体劣性 11
type: Disease
type: C7057
has inheritance: HP_0000007

尿細管異発生
type: Disease
type: C7057
has inheritance: HP_0000007

無爪症, 全 -小頭症
type: Disease
type: C7057

腎-性器-中耳奇形
type: Disease
type: C7057
has inheritance: HP_0000007

Chudley-McCullough 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

白質ジストロフィー, ミエリン形成不全性, 6 (HLD6)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

脊髄小脳失調, 常染色体劣性17
type: Disease
type: C7057
has inheritance: HP_0000007

Crouzon 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

円柱腫, 家族性
type: Disease
type: C7057
has inheritance: HP_0000006

シスタチオニン尿症
type: Disease
type: C7057
has inheritance: HP_0000007

シスチン尿症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Dandy-Walker 症候群 (DWS)
type: Disease
type: C7057
has inheritance: HP_0001425
has inheritance: HP_0003745

Darier-White 病 (DAR)
type: Disease
type: C7057
has inheritance: HP_0000006

ジストロフィー, 肢帯型, 常染色体劣性6
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロパチー, 遺伝性温度感受性
type: Disease
type: C7057
has inheritance: HP_0000006

ヘモクロマトーシス1型
type: Disease
type: C7057
has inheritance: HP_0000007

16p13.3 重複症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

Hamamay 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

ウィルムス腫瘍-仮性半陰陽
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001428

難聴-爪ジストロフィー-骨ジストロフィー-精神遅滞-けいれん症候群)
type: Disease
type: C7057
has inheritance: HP_0000007

角皮症, 掌蹠, 点状 II 型
type: Disease
type: C7057
has inheritance: HP_0000006

糖尿病-難聴, 母遺伝性
type: Disease
type: C7057
has inheritance: HP_0001427

魚鱗癬, ヤマアラシ状
type: Disease
type: C7057
has inheritance: HP_0000006

高フェニールアラニン血症, BH4 依存性, C
type: Disease
type: C7057
has inheritance: HP_0000007

魚鱗癬, ヤマアラシ皮状, Curth-Macklin 型 (IHCM)
type: Disease
type: C7057
has inheritance: HP_0000006

高αリポ蛋白血症1
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病, 軸索, 2N 型 (CMT2N)
type: Disease
type: C7057
has inheritance: HP_0000006

多分泌-ポリニューロパチー症候群
type: Disease
type: C7057
has inheritance: HP_0000007

眼窩縁低形成
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病, 軸索性2D型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病, 軸索性, 2E 型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcit-Marie-Tooth 病, 軸索性, 2B型 (CMT2B)
type: Disease
type: C7057
has inheritance: HP_0000006

遺伝性運動感覚ニューロパチー IIc 型
type: Disease
type: C7057
has inheritance: HP_0000006

出血性疾患, 血小板型, 20
type: Disease
type: C7057
has inheritance: HP_0000006

肺ヘモジデローシス
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

筋ジストロフィー, 常染色体劣性-心筋症-三角舌
type: Disease
type: C7057
has inheritance: HP_0000007

起立性低血圧1
type: Disease
type: C7057
has inheritance: HP_0000007

鎌状赤血球性貧血
type: Disease
type: C7057
has inheritance: HP_0000007

Dubin-Johnson 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

毛細血管拡張, 遺伝性良性
type: Disease
type: C7057
has inheritance: HP_0000006

Dubowitz 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

混合性酸化的リン酸化欠乏症10
type: Disease
type: C7057
has inheritance: HP_0000007

Dyggve-Melchior-Clausen 病
type: Disease
type: C7057
has inheritance: HP_0000007

結節性多発動脈炎, 小児期発症
type: Disease
type: C7057
has inheritance: HP_0000007

Leri-Weill 異軟骨骨症 (LWD)
type: Disease
type: C7057
has inheritance: HP_0000006

小脳失調, 非進行性-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

肢端顔異骨症1, Nager 型 (AFD1)
type: Disease
type: C7057
has inheritance: HP_0000006

軸後性肢端顔異骨症
type: Disease
type: C7057
has inheritance: HP_0000007

出血性疾患, 血小板性, 8
type: Disease
type: C7057
has inheritance: HP_0000007

動脈管開存-二弁性大動脈弁-手奇形
type: Disease
type: C7057
has inheritance: HP_0000006

知的発達障害-心不整脈
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-tooth 病4B2型
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

免疫不全58
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病 4B1 型
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

Charcot-Marie-Tooth 病, 脱髄性, 4F型
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロパチー, 遺伝性運動感覚, Russe 型
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロパチー, 遺伝性運動感覚, Lom 型 (NMSL)
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロパチー, 先天性ミエリン形成不全性, 1, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

捻転ジストニア-1, 常染色体優性型
type: Disease
type: C7057
has inheritance: HP_0000006

単純型表皮水泡症-筋ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, 先天性メロシン欠乏性, 1A
type: Disease
type: C7057
has inheritance: HP_0000007

Au-Kline 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

カンジダ症, 家族性, 2
type: Disease
type: C7057
has inheritance: HP_0000007

てんかん性脳症, 早期乳児性, 7
type: Disease
type: C7057
has inheritance: HP_0000006

白質脳症-脳石灰化-嚢胞
type: Disease
type: C7057
has inheritance: HP_0000007

ミオパチー, 早期発症-無反射-呼吸窮迫-嚥下障害
type: Disease
type: C7057
has inheritance: HP_0000007

副腎白質ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0001419

Charcot-Marie-Tooth 病 4C型
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

Charcot-Marie-Tooth 病, 軸索型, 常染色体優性 2A2A型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 腓骨筋萎縮 4A 型(CMT4A)
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

Charcot-Marie-Tooth 病, 軸索型 2L (CMT2A)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Charcot-Marie-Tooth 病, 軸索性, 2A型 (CMT2A)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Charcot-Marie-Tooth 病, 2J型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病, 軸作成, 2I 型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病, 軸索型, 2F
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

筋ジストロフィー, 肢帯型, 常染色体劣性1
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, 肢帯型, 常染色体劣性2
type: Disease
type: C7057
has inheritance: HP_0000007

肺結節性リンパ組織過形成, 家族性
type: Disease
type: C7057
has inheritance: HP_0000006

セロイドリポフスシン症, 神経性, 11
type: Disease
type: C7057
has inheritance: HP_0000007

肺胞微小石灰化
type: Disease
type: C7057
has inheritance: HP_0000007

眼咽頭筋ジストロフィー(OPMD)
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー-ジストログリカン症 (先天性脳および眼奇形), A型, 4
type: Disease
type: C7057
has inheritance: HP_0000007

筋強直性ジストロフィー1
type: Disease
type: C7057
has inheritance: HP_0000006

Bernard-Soulier 症候群 (BSS)
type: Disease
type: C7057
has inheritance: HP_0000007

重症複合免疫不全-イオン化放射線への感受性)
type: Disease
type: C7057
has inheritance: HP_0000007

重症複合免疫不全症, X連鎖性 (SCIDX1)
type: Disease
type: C7057
has inheritance: HP_0001419

重症複合免疫不全, 常染色体劣性, T細胞陰性, B細胞陰性, NK細胞陰性, アデノシンデミナーゼ欠損による
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001442

MASP2 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

Xp11.3 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0001419

運動失調, 小脳および末梢混合性-難聴-糖尿病
type: Disease
type: C7057
has inheritance: HP_0000007

Wolf-Hirschhorn 症候群 (WHS)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

猫泣症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

胆汁うっ滞, 良性反復性肝内
type: Disease
type: C7057
has inheritance: HP_0000007

Ehlers-Danlos 症候群, 関節過動型
type: Disease
type: C7057
has inheritance: HP_0000006

痙性運動失調 3, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

Ellis-van Creveld 症候群(EVC)
type: Disease
type: C7057
has inheritance: HP_0000007

好中球減少, 重症先天的, 4, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞, X連鎖性, 症候群性9 (MRXS9)
type: Disease
type: C7057

脳症, 進行性, 早期発症-脳萎縮と薄い脳梁
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞, X連鎖性, 症候群性, Martin-Probst 型
type: Disease
type: C7057
has inheritance: HP_0001419

心ブロック, 先天性
type: Disease
type: C7057
has inheritance: HP_0000007

巨脳症-毛細血管奇形-多小脳回症候群
type: Disease
type: C7057
has inheritance: HP_0001428
has inheritance: HP_0003745

内軟骨腫症, 多発性
type: Disease
type: C7057
has inheritance: HP_0000006

ミオパチー, 単独ミトコンドリア, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

弾性線維性仮性黄色腫様疾患-多発性凝固因子欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

魚鱗癬, 先天性, 常染色体劣性11
type: Disease
type: C7057
has inheritance: HP_0000007

クリオグロブリン血症, 家族性, 混合性
type: Disease
type: C7057
has inheritance: HP_0000006

ミトコンドリアリン酸運搬因子欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

先天性グリコシル化障害 Im 型 (CDG1M)
type: Disease
type: C7057
has inheritance: HP_0000007

多毛, 先天性全身性
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001423

Alagille 症候群 2
type: Disease
type: C7057
has inheritance: HP_0000006

難聴, 先天性-爪ジストロフィー, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞, 常染色体劣性36
type: Disease
type: C7057
has inheritance: HP_0000007

Shaheen 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

脳回状頭皮-甲状腺無形成-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0001417

後部小水疱, 家族性
type: Disease
type: C7057
has inheritance: HP_0000007

分類不能型免疫不全8, 自己免疫を伴う
type: Disease
type: C7057
has inheritance: HP_0000007

Alagille 症候群 1 (AGS)
type: Disease
type: C7057
has inheritance: HP_0000006

大脳皮質異形成, 複雑-その他の脳奇形8
type: Disease
type: C7057
has inheritance: HP_0000007

AICAR トランスフォルミラーゼ/IMP サイクロハイドラーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

白質脳症-運動失調
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, 肢帯型, 2R型
type: Disease
type: C7057

3メチルグルタコン酸尿症-白内障-神経学的異常-好中球減少
type: Disease
type: C7057
has inheritance: HP_0000007

重症複合免疫不全, 常染色体劣性, T細胞陰性, B細胞陽性, NK細胞陰性型
type: Disease
type: C7057
has inheritance: HP_0000007

線条体黒質変性, 小児期発症
type: Disease
type: C7057
has inheritance: HP_0000007

Fanconi 貧血, 相補群 D1 (FANCD1; FAD1)
type: Disease
type: C7057
has inheritance: HP_0000007

有痛性脂肪腫
type: Disease
type: C7057
has inheritance: HP_0000006

網膜ジストロフィー-虹彩コロボーマ+/-先天性白内障
type: Disease
type: C7057
has inheritance: HP_0000006

リポジストロフィー, 家族性部分, 6型
type: Disease
type: C7057
has inheritance: HP_0000007

耳朶, 分厚い-砧骨鐙骨異常による伝音性難聴
type: Disease
type: C7057
has inheritance: HP_0000006

運動ニューロパチー, 末梢性-自律神経機能障害
type: Disease
type: C7057
has inheritance: HP_0000007

Lowry-MacLean 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺 56, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

喉頭爪皮膚症候群
type: Disease
type: C7057
has inheritance: HP_0000007

1q21.1 欠失症候群, 1.35 Mb
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

ミトコンドリア複合体 I 欠乏症, 核型20
type: Disease
type: C7057
has inheritance: HP_0000007

肺嚢胞性リンパ管拡張症
type: Disease
type: C7057
has inheritance: HP_0000007

股関節脱臼, 先天性-指過伸展-顔貌異常
type: Disease
type: C7057
has inheritance: HP_0000006

1q21.1 重複症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

性腺機能低下症-白内障症候群
type: Disease
type: C7057
has inheritance: HP_0000007

1q41-q42 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

甲状舌管嚢胞, 家族性
type: Disease
type: C7057

精神遅滞, X連鎖性, 症候群性, Hedera 型)
type: Disease
type: C7057
has inheritance: HP_0001419

巨舌
type: Disease
type: C7057
has inheritance: HP_0000006

免疫不全41-リンパ増殖-自己免疫
type: Disease
type: C7057
has inheritance: HP_0000007

橋小脳低形成 7型
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0003745

脊髄小脳失調, 常染色体劣性6
type: Disease
type: C7057
has inheritance: HP_0000007

Fryns 大頭症
type: Disease
type: C7057
has inheritance: HP_0000007

大動脈弓奇形-特異顔貌-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

絞扼輪, 先天性
type: Disease
type: C7057
has inheritance: HP_0003745

手足性器症候群
type: Disease
type: C7057
has inheritance: HP_0000006

裂手-閉塞性尿路症-二分脊椎-横隔膜異常
type: Disease
type: C7057
has inheritance: HP_0000006

無眼球-四肢奇形
type: Disease
type: C7057
has inheritance: HP_0000007

Fryns 小眼球症候群
type: Disease
type: C7057
has inheritance: HP_0000007

巨躯症-小眼球, 致死性
type: Disease
type: C7057
has inheritance: HP_0000007

Caroli 病, 単独
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳失調, 常染色体劣性, 小児期発症
type: Disease
type: C7057
has inheritance: HP_0000007

裂足-下顎顔面異骨症
type: Disease
type: C7057
has inheritance: HP_0000006

リンパ増殖症候群 1
type: Disease
type: C7057
has inheritance: HP_0000007

屈指症 1
type: Disease
type: C7057
has inheritance: HP_0000006

静脈奇形, 多発性皮膚および粘膜
type: Disease
type: C7057
has inheritance: HP_0000006

肺無発生-先天性心奇形-母指奇形症候群
type: Disease
type: C7057
has inheritance: HP_0000007

混合性酸化的リン酸化欠乏症13
type: Disease
type: C7057
has inheritance: HP_0000007

短指症-欠指症-腓骨無形成または低形成
type: Disease
type: C7057
has inheritance: HP_0000006

先天性皮膚欠損-高度近視-錐体桿体機能障害
type: Disease
type: C7057
has inheritance: HP_0000007

先天性皮膚無形成-腸管リンパ浮腫
type: Disease
type: C7057
has inheritance: HP_0000007

先天性四肢皮膚欠損, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

先天性皮膚無形成 (ACC)
type: Disease
type: C7057
has inheritance: HP_0000006

円錐幹心奇形 (CTHM)
type: Disease
type: C7057
has inheritance: HP_0000007

無指趾骨, 部分-合趾症-第4中足骨重複
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

無指趾骨-半脊椎
type: Disease
type: C7057
has inheritance: HP_0000007

混合性酸化的リン酸化欠乏症9
type: Disease
type: C7057
has inheritance: HP_0000007

ジストニア 7, 捻転 (DYT7)
type: Disease
type: C7057
has inheritance: HP_0000006

Marfan 様精神遅滞症候群, 常染色体性
type: Disease
type: C7057
has inheritance: HP_0000007

混合性酸化的リン酸化欠乏症15
type: Disease
type: C7057
has inheritance: HP_0000007

Shprintzen-Goldberg 頭蓋骨縫合早期癒合症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

鰓弓症候群, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001417

Marden-Walker 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Van den Ende-Gupta 症候群 (VDEGS)
type: Disease
type: C7057
has inheritance: HP_0000007

無顔脳症-小脳異発生
type: Disease
type: C7057
has inheritance: HP_0000007

乳頭, 過剰
type: Disease
type: C7057
has inheritance: HP_0000006

眼球運動失行
type: Disease
type: C7057
has inheritance: HP_0000007

混合性酸化的リン酸化欠乏症14
type: Disease
type: C7057
has inheritance: HP_0000007

3MC 症候群 3
type: Disease
type: C7057
has inheritance: HP_0000007

尺骨低形成-裂足
type: Disease
type: C7057
has inheritance: HP_0001419

Bornholm 眼病
type: Disease
type: C7057
has inheritance: HP_0001419

先天性多発性関節拘縮, 神経原性 (AMCN)
type: Disease
type: C7057
has inheritance: HP_0000007

水子宮膣症候群
type: Disease
type: C7057
has inheritance: HP_0000007

McDonough 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

無眼球症, 症候性 9
type: Disease
type: C7057
has inheritance: HP_0000007

Arnold-Chiari 奇形
type: Disease
type: C7057
has inheritance: HP_0001426

MASA 症候群
type: Disease
type: C7057
has inheritance: HP_0001419

AREDYLD 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

腸憩室-ヘルニア-網膜剥離
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, 肢帯型, 常染色体劣性18
type: Disease
type: C7057
has inheritance: HP_0000007

関節拘縮症, 遠位5型
type: Disease
type: C7057
has inheritance: HP_0000006

メロレオストーシス, 単独
type: Disease
type: C7057
has inheritance: HP_0003745

Melnick-Needles 症候群
type: Disease
type: C7057
has inheritance: HP_0001423

Melkersson 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

混合性酸化的リン酸化欠乏症1
type: Disease
type: C7057
has inheritance: HP_0000007

Illum 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

メラニン沈着症, 神経皮膚
type: Disease
type: C7057
has inheritance: HP_0001428
has inheritance: HP_0003745

巨大角膜-精神遅滞症候群
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄筋萎縮,X連鎖性2
type: Disease
type: C7057
has inheritance: HP_0001419

遠位関節拘縮症 6 型
type: Disease
type: C7057
has inheritance: HP_0000006

白髪前頭房-奇形
type: Disease
type: C7057
has inheritance: HP_0000007

多発先天奇形-筋緊張低下-けいれん症候群3
type: Disease
type: C7057
has inheritance: HP_0000007

硬直-多焦点性けいれん症候群, 致死性新生児
type: Disease
type: C7057
has inheritance: HP_0000007

難聴, 先天性-内耳無発生-小耳-小歯
type: Disease
type: C7057
has inheritance: HP_0000007

混合性酸化的リン酸化欠乏症26
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全, MAPBP 不活性化タンパク障害による
type: Disease
type: C7057
has inheritance: HP_0000007

肢端紅痛症, 原発性
type: Disease
type: C7057
has inheritance: HP_0000006

サーファクタント代謝機能障害, 肺, 1
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

顆粒球減少症, 重症先天性, 5, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000007

距骨-膝蓋骨-舟状骨融解-滑膜炎-第4中手骨短縮
type: Disease
type: C7057
has inheritance: HP_0000007

四肢中部短縮-骨癒合症候群
type: Disease
type: C7057
has inheritance: HP_0000006

アレルギー性気管支肺アスペルギルス症, 家族性
type: Disease
type: C7057
has inheritance: HP_0000006

胃炎, 家族性巨大胃趨襞性
type: Disease
type: C7057
has inheritance: HP_0000007

致死性先天性関節拘縮症候群10型
type: Disease
type: C7057
has inheritance: HP_0000007

四肢低形成-ミューラー管奇形
type: Disease
type: C7057
has inheritance: HP_0000006

腹水, 乳糜性
type: Disease
type: C7057
has inheritance: HP_0000007

筋萎縮性側索硬化症, グアム型
type: Disease
type: C7057
has inheritance: HP_0000006

関節症, 進行性偽リウマチ性, 小児
type: Disease
type: C7057
has inheritance: HP_0000007

母指, 低形成-脈絡膜コロボーマ-対耳輪低形成-難聴
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, 先天性, 関節拘縮を生じる
type: Disease
type: C7057
has inheritance: HP_0000007

リポジストロフィー, 先天性-精神遅滞-難聴-低身長-細い骨
type: Disease
type: C7057
has inheritance: HP_0000007

鰓原性難聴症候群
type: Disease
type: C7057
has inheritance: HP_0000006

頭蓋水晶体縫合異形成 (CLSD)
type: Disease
type: C7057
has inheritance: HP_0000007

鉄芽球性貧血-B細胞免疫不全-周期性発熱-発達遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

小脳性運動失調, X連鎖性 (CLA2)
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

小脳性運動失調-外胚葉形成不全
type: Disease
type: C7057
has inheritance: HP_0000007

Gordon Holms 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

小脳性運動失調-無反射-凹足-視神経萎縮-感音性難聴
type: Disease
type: C7057
has inheritance: HP_0000006

小脳性運動失調 1 (CLA1)
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, 軸索性, 2W型
type: Disease
type: C7057
has inheritance: HP_0000006

メタ軟骨腫症
type: Disease
type: C7057
has inheritance: HP_0000006

運動失調, 早期発症-眼球運動失行-低アルブミン血症
type: Disease
type: C7057
has inheritance: HP_0000007

中手骨4-5癒合
type: Disease
type: C7057
has inheritance: HP_0001419

Cayler 心顔症候群
type: Disease
type: C7057
has inheritance: HP_0000006

尺骨低形成
type: Disease
type: C7057
has inheritance: HP_0000006

分類不能型免疫不全11
type: Disease
type: C7057
has inheritance: HP_0000007

10q26欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

Arts 症候群
type: Disease
type: C7057
has inheritance: HP_0001419

ミトコンドリアDNA枯渇症候群7 (肝脳型)
type: Disease
type: C7057
has inheritance: HP_0000007

運動失調-顔貌異常-毛髪異形成
type: Disease
type: C7057
has inheritance: HP_0000007

痙性運動失調7, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

ミオパチー, 中心核, 1
type: Disease
type: C7057
has inheritance: HP_0000006

Boucher-Neuhauser 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

発作性強直性上方視, 良性小児-運動失調
type: Disease
type: C7057
has inheritance: HP_0000006

壁板網膜-運動失調
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

小脳性運動失調, 早期発症-腱反射保存
type: Disease
type: C7057

Charcot-Marie-Tooth 病, 劣性中間型C
type: Disease
type: C7057
has inheritance: HP_0000007

アテロオステオジェネシス 1 型 (AO I)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

精神遅滞, 常染色体劣性49
type: Disease
type: C7057
has inheritance: HP_0000007

結腸閉鎖
type: Disease
type: C7057
has inheritance: HP_0001417

無トランスフェリン血症
type: Disease
type: C7057
has inheritance: HP_0000007

ミトコンドリア複合体V (ATP synthase) 欠乏症, 核型2
type: Disease
type: C7057
has inheritance: HP_0000007

αサラセミア/精神遅滞症候群, 16番染色体関連)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001466

X連鎖性精神遅滞, Atkin 型
type: Disease
type: C7057
has inheritance: HP_0001419
has inheritance: HP_0001423

動脈硬化症, 早期-難聴-ニューロパチー-糖尿病-光刺激性筋クローヌス-神経変性疾患
type: Disease
type: C7057
has inheritance: HP_0000007

チアミン反応性貧血症候群
type: Disease
type: C7057
has inheritance: HP_0000007

運動失調-難聴-精神遅滞症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Ayme-Gripp 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞-特異顔貌+/-心奇形
type: Disease
type: C7057
has inheritance: HP_0000006

てんかん性脳症, 早期乳児性, 18
type: Disease
type: C7057
has inheritance: HP_0000007

組換え染色体8症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Koolen- de Vries 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001466

気管食道瘻 +/- 食道閉鎖
type: Disease
type: C7057

Monocarboxylate transporter 2 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Fazio- Londe 病
type: Disease
type: C7057
has inheritance: HP_0000007

D-二官能性タンパク欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

疣贅様表皮異形成への感受性 1
type: Disease
type: C7057
has inheritance: HP_0000007

補体過剰活性化-血管症性血栓症-タンパク漏失性腸症
type: Disease
type: C7057
has inheritance: HP_0000007

ミトコンドリア DNA 欠乏症候群 13 (MNGIE 型)
type: Disease
type: C7057
has inheritance: HP_0000007

ミオクロニーてんかん, Unverricht および Lundborg
type: Disease
type: C7057
has inheritance: HP_0000007

Temple 症候群)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

精神遅滞, 常染色体優性 7
type: Disease
type: C7057
has inheritance: HP_0000006

Mulchandani-Bhoj 症候群
type: Disease
type: C7057

表皮剥離性角質増殖症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

リンパ増殖症候群, X連鎖性, 2
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

明らかなミネラロコルチコイド過剰
type: Disease
type: C7057
has inheritance: HP_0000007

Emanuel 症候群
type: Disease
type: C7057

ミオパチー, 筋線維, 5 (MFM5)
type: Disease
type: C7057
has inheritance: HP_0000006

T細胞免疫不全-反復性感染-自己免疫-心奇形
type: Disease
type: C7057
has inheritance: HP_0000007

Fabry 病
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

プロトロンビン欠乏症, 先天性
type: Disease
type: C7057
has inheritance: HP_0000007

第V因子欠損
type: Disease
type: C7057
has inheritance: HP_0000007

第 VII 因子欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

第 X 因子欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

第XI因子欠損症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Opitz-Kaveggia 症候群
type: Disease
type: C7057
has inheritance: HP_0001419

膀胱逸脱
type: Disease
type: C7057
has inheritance: HP_0000006

第 XII 因子欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

内因子欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

Farber 脂肪肉芽腫症
type: Disease
type: C7057
has inheritance: HP_0000007

進行性骨化性線維異形成 (FOP)
type: Disease
type: C7057
has inheritance: HP_0000006

OEIS 複合
type: Disease
type: C7057
has inheritance: HP_0003745

リンパ増殖性疾患, X連鎖性, 1
type: Disease
type: C7057
has inheritance: HP_0001419

Desanto-Shinawi 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

高IgD症候群
type: Disease
type: C7057
has inheritance: HP_0000007

先天性グリコシル化異常症 IIk 型
type: Disease
type: C7057
has inheritance: HP_0000007

膿瘍性穿掘性頭部毛包周囲炎, 家族性
type: Disease
type: C7057
has inheritance: HP_0003745

Frasier 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001428

フコシドーシス
type: Disease
type: C7057
has inheritance: HP_0000007

けいれん-側弯-大頭症候群
type: Disease
type: C7057
has inheritance: HP_0000007

ノイラミニダーゼ欠損症- β-ガラクトシダーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, 肢帯型, 常染色体劣性5
type: Disease
type: C7057
has inheritance: HP_0000007

Gerstmann-Straussler 病 (GSD)
type: Disease
type: C7057
has inheritance: HP_0000006

Gitelman 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

高フェニールアラニン血症, BH4 欠乏性, A
type: Disease
type: C7057
has inheritance: HP_0000007

無βリポ蛋白血症 (ABL)
type: Disease
type: C7057
has inheritance: HP_0000007

軟骨無形成症
type: Disease
type: C7057
has inheritance: HP_0000006

青色錐体1色型色覚
type: Disease
type: C7057
has inheritance: HP_0001419

ミトコンドリアDNA枯渇症候群9 (脳筋症型, メチル化尿症を伴う)
type: Disease
type: C7057
has inheritance: HP_0000007

白質ジストロフィー, ミエリン形成不全性, 12
type: Disease
type: C7057
has inheritance: HP_0000007

ミオパチー, 遠位 1
type: Disease
type: C7057
has inheritance: HP_0000006

グリコーゲン蓄積病 II
type: Disease
type: C7057
has inheritance: HP_0000007

グリコーゲン蓄積症 III 型
type: Disease
type: C7057
has inheritance: HP_0000007

グリコーゲン蓄積症 IV 型
type: Disease
type: C7057
has inheritance: HP_0000007

グリコーゲン蓄積症 V 型
type: Disease
type: C7057
has inheritance: HP_0000007

グリコーゲン蓄積症 VI 型
type: Disease
type: C7057
has inheritance: HP_0000007

3-hydroxy-3-methylglutaryl-CoA lyase 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

Succinic semialdehyde dehydrogenase 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

アルギニノコハク酸尿症
type: Disease
type: C7057
has inheritance: HP_0000007

フマラーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

グルタル酸血症 I
type: Disease
type: C7057
has inheritance: HP_0000007

メチルマロン酸尿症, メチルマロン酸 CoA ムターゼ欠損症による
type: Disease
type: C7057
has inheritance: HP_0000007

メヴァロン酸尿症
type: Disease
type: C7057
has inheritance: HP_0000007

掌蹠角皮症, 非表皮融解性, 巣状またはびまん性
type: Disease
type: C7057
has inheritance: HP_0000006

グリコーゲン蓄積症 VII 型
type: Disease
type: C7057
has inheritance: HP_0000007

Goodpasture 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

関節拘縮症, 遠位, 3型
type: Disease
type: C7057
has inheritance: HP_0000006

基底細胞母斑症候群 (BCNS)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

オロチン酸尿症
type: Disease
type: C7057
has inheritance: HP_0000007

α- ケトグルタル酸脱水素酵素欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

イソ吉草酸血症 (IVA)
type: Disease
type: C7057
has inheritance: HP_0000007

プロピオン酸血症
type: Disease
type: C7057
has inheritance: HP_0000007

肢端脳梁症候群 (ACLS)
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

腸性先端皮膚炎, 亜鉛欠損症型 (AEZ)
type: Disease
type: C7057
has inheritance: HP_0000007

角皮症, 掌蹠, 点状 III 型
type: Disease
type: C7057
has inheritance: HP_0000006

二糖類不耐症 I
type: Disease
type: C7057
has inheritance: HP_0000007

酸性ホスファターゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

ピリミジンヌクレオチダーゼ欠損症による溶血性貧血
type: Disease
type: C7057
has inheritance: HP_0000007

Greig 頭蓋多合指症候群 (GCPS)
type: Disease
type: C7057
has inheritance: HP_0000006

大脳クレアチン欠損症候群2
type: Disease
type: C7057
has inheritance: HP_0000007

難聴, X連鎖性 2 (DFNX2)
type: Disease
type: C7057
has inheritance: HP_0001419

硬化性胼胝腫
type: Disease
type: C7057
has inheritance: HP_0000006

先天性白内障-顔貌異常-ニューロパチー (CCFDN)
type: Disease
type: C7057
has inheritance: HP_0000007

四肢先端中部異形成, Maroteaux 型
type: Disease
type: C7057
has inheritance: HP_0000007

遺伝性対称性異色症
type: Disease
type: C7057
has inheritance: HP_0000006

アシル-CoA 脱水素酵素, 中鎖型 (ACADM)
type: Disease
type: C7057
has inheritance: HP_0000007

Adenylosuccinase欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

無ガンマグロブリン血症, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001419

脊髄小脳性運動失調 11
type: Disease
type: C7057
has inheritance: HP_0000006

大理石骨病, 常染色体劣性 6
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳性運動失調 5
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳失調 15 (SCA15)
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳性運動失調13
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳性運動失調14
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳性運動失調 12 (SCA12)
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳性運動失調 4
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳失調症27
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Holt-Oram 症候群 (HOS1)
type: Disease
type: C7057
has inheritance: HP_0000006

ホモシスチン尿症
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳性運動失調 10 (SCA10)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003743

ホモシスチン尿症, N (5, 10) -メチレンテトラヒドロ葉酸レダクターゼ欠損による
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳失調 8 (SCA8)
type: Disease
type: C7057
has inheritance: HP_0000006

側頭動脈炎
type: Disease
type: C7057
has inheritance: HP_0000006

Huntington 病
type: Disease
type: C7057
has inheritance: HP_0000006

膝蓋骨無形成または低形成 (PTLAH)
type: Disease
type: C7057
has inheritance: HP_0000006

好中球減少, 重症先天性, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001419

コエンザイム Q10 欠損症, 原発性, 7
type: Disease
type: C7057
has inheritance: HP_0000007

色素異常症, 網状-全身症状, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

Aicardi 症候群 (AIC)
type: Disease
type: C7057
has inheritance: HP_0001423

アミロイドーシス, 家族性内蔵型
type: Disease
type: C7057
has inheritance: HP_0000006

大理石骨症, 常染色体優性2 型 (OPTA2)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

白皮症, 眼, I 型
type: Disease
type: C7057
has inheritance: HP_0001417

アルカプトン尿症
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳失調17
type: Disease
type: C7057
has inheritance: HP_0000006

糖原病 XII 型
type: Disease
type: C7057
has inheritance: HP_0000007

Alexander 病
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳性運動失調 2
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003743

Allan-Herdon-Dudley 症候群 (AHDS)
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

脊髄小脳失調症 1 (SCA1)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003744

脊髄小脳性運動失調 6 (SCA6)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003743

Machado-Joseph 病 (MJD)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003743

T 細胞免疫不全-先天性禿頭-爪ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000007

デスモステロール症
type: Disease
type: C7057
has inheritance: HP_0000007

アミロイドーシス, 遺伝性, transthyretin 関連
type: Disease
type: C7057
has inheritance: HP_0000006

アミロイドーシス, フィンランド型
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞，常染色体優性32
type: Disease
type: C7057
has inheritance: HP_0000006

α1アンチトリプシン欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

マンノース症, αB, リソソーム
type: Disease
type: C7057
has inheritance: HP_0000007

下垂体ホルモン欠乏症, 混合性, 4
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー, 肢帯型, 常染色体劣性3
type: Disease
type: C7057
has inheritance: HP_0000007

Alstrom 症候群 (ALMS)
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞, 常染色体優性 21
type: Disease
type: C7057
has inheritance: HP_0000006

骨髄炎, 無菌性多巣性-骨膜炎-嚢胞症
type: Disease
type: C7057
has inheritance: HP_0000007

Sorsby 眼底ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000006

染色体 6pter-p24欠失症候群
type: Disease
type: C7057
has inheritance: HP_0003745

Williams-Beuren 領域重複症候群
type: Disease
type: C7057
has inheritance: HP_0000006

キロミクロン貯留病
type: Disease
type: C7057
has inheritance: HP_0000007

EVEN-プラス症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Angelman 症候群 (AS)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

肺胞毛細血管異形成-肺静脈異常
type: Disease
type: C7057
has inheritance: HP_0000006

骨嚢胞性血管腫, 瀰漫性
type: Disease
type: C7057
has inheritance: HP_0000006

ウロカナーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー-ジストログリカン症 (肢帯), C型, 14
type: Disease
type: C7057
has inheritance: HP_0000007

α-2-プラスミン抑制因子欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳失調 21 (SCA21)
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳失調19 (SCA19)
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳失調18
type: Disease
type: C7057
has inheritance: HP_0000006

アンチトロンビン III 欠損症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Apert 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

再生不良性貧血
type: Disease
type: C7057

周期性発熱, 家族性, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

下顎低形成-難聴-プロゲリア様症状-リポジストロフィー症候群
type: Disease
type: C7057
has inheritance: HP_0000006

アルギニン血症
type: Disease
type: C7057
has inheritance: HP_0000007

アロマターゼ欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

関節リウマチ, 全身型若年性
type: Disease
type: C7057

アスパルチルグルコサミン尿 (AGU)
type: Disease
type: C7057
has inheritance: HP_0000007

成長遅滞-発達遅滞-顔貌異常
type: Disease
type: C7057
has inheritance: HP_0000007

Friedreich 運動失調 1 (FRDA)
type: Disease
type: C7057
has inheritance: HP_0000007

ビタミン E 欠損症, 家族性単独
type: Disease
type: C7057
has inheritance: HP_0000007

運動失調, 周期性前庭小脳性
type: Disease
type: C7057
has inheritance: HP_0000006

痙性運動失調 Charlevoix-Saguenay 型
type: Disease
type: C7057
has inheritance: HP_0000007

ミオパチー, 先天性, Compton-North
type: Disease
type: C7057
has inheritance: HP_0000007

パーキンソン症状-痙性, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001419

免疫不全31A
type: Disease
type: C7057
has inheritance: HP_0000006

早老症候群, Penttinen 型
type: Disease
type: C7057
has inheritance: HP_0000006

免疫不全35
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー-ジストログリカン異常症 (肢帯), C型, 12
type: Disease
type: C7057
has inheritance: HP_0000007

骨幹端異形成-上顎骨低形成-短指症
type: Disease
type: C7057
has inheritance: HP_0000006

骨幹端性異骨症-精神遅滞-伝音性難聴
type: Disease
type: C7057
has inheritance: HP_0000007

骨幹端異形成, Spahr 型
type: Disease
type: C7057
has inheritance: HP_0000007

Phosphoserine aminotransferase 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全55
type: Disease
type: C7057
has inheritance: HP_0000007

アクロゲリア
type: Disease
type: C7057

脳梁欠損-外性器異常
type: Disease
type: C7057
has inheritance: HP_0001417

精神遅滞, 常染色体優性18
type: Disease
type: C7057
has inheritance: HP_0000006

3MC症候群1
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全27B
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺 9B, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

重症複合免疫不全, B 細胞陰性
type: Disease
type: C7057
has inheritance: HP_0000007

3-メチルグルタコン酸尿症 VIII 型
type: Disease
type: C7057
has inheritance: HP_0000007

小頭-心筋症
type: Disease
type: C7057
has inheritance: HP_0000007

小頭症, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

白皮症-小頭-指趾異常症候群
type: Disease
type: C7057

3-メチルグルタコン酸尿症 IX 型
type: Disease
type: C7057
has inheritance: HP_0000007

Richieri-Costa/Guion-Almeida 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

高尿酸血症-肺高血圧-腎不全-アルカローシス症候群
type: Disease
type: C7057
has inheritance: HP_0000007

小頭-脈絡膜網膜症, 常染色体劣性 1
type: Disease
type: C7057
has inheritance: HP_0000007

小頭-先天性心疾患-片側性腎無発生-低分葉肺
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全30
type: Disease
type: C7057
has inheritance: HP_0000007

腎細尿管性アシドーシス, 家族性近位型
type: Disease
type: C7057
has inheritance: HP_0000006

免疫不全29
type: Disease
type: C7057
has inheritance: HP_0000007

小頭 +/- 脈絡膜網膜症-リンパ浮腫または精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

ムコ多糖症プラス症候群
type: Disease
type: C7057
has inheritance: HP_0000007

小頭-頚椎癒合奇形
type: Disease
type: C7057
has inheritance: HP_0000007

Birk-Landau-Perez 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全38-基底核石灰化
type: Disease
type: C7057
has inheritance: HP_0000007

ミトコンドリアピルビン酸担送体欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

小角膜-緑内障-前頭洞欠損
type: Disease
type: C7057
has inheritance: HP_0000006

知的発達障害-顔貌異常-けいれん-遠位四肢奇形
type: Disease
type: C7057
has inheritance: HP_0000007

十二指腸閉鎖 (家族性)
type: Disease
type: C7057
has inheritance: HP_0000007

喉頭閉鎖, 先天性部分的
type: Disease
type: C7057
has inheritance: HP_0000006

小頭-難聴症候群
type: Disease
type: C7057
has inheritance: HP_0000006

空腸閉鎖
type: Disease
type: C7057
has inheritance: HP_0000007

Burn-McKeown 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

三尖弁閉鎖
type: Disease
type: C7057

肺動脈閉鎖-完全な心室中隔
type: Disease
type: C7057
has inheritance: HP_0000007

小胃症-四肢減少連合
type: Disease
type: C7057
has inheritance: HP_0003745

肺動脈閉鎖-心室中隔欠損
type: Disease
type: C7057
has inheritance: HP_0000006

Horner 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

石灰化上皮腫
type: Disease
type: C7057
has inheritance: HP_0001428

眼瞼下垂, 遺伝性先天性 1 (PTOS1)
type: Disease
type: C7057
has inheritance: HP_0000006

マーカス・ガン現象
type: Disease
type: C7057
has inheritance: HP_0000006

小球状水晶体-骨幹端異形成
type: Disease
type: C7057
has inheritance: HP_0000006

染色体 2p16.1-p15 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0003745

溶血性貧血, CD59仲介性 +/- 免疫仲介性ポリニューロパチー
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロン症候群, 遠位遺伝性運動, VIII 型
type: Disease
type: C7057
has inheritance: HP_0000006

片側顔面萎縮, 進行性
type: Disease
type: C7057
has inheritance: HP_0003745

高マンガン血症-ジストニア1
type: Disease
type: C7057
has inheritance: HP_0000007

耳介頭蓋合指症
type: Disease
type: C7057
has inheritance: HP_0000006

片側顔面発育不全-橈骨側異常
type: Disease
type: C7057
has inheritance: HP_0000006

22q11.2 欠失症候群, 遠位
type: Disease
type: C7057
has inheritance: HP_0000006

Barber-Say 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Ackerman 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Heme oxygenase 1 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

Banki 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

鳥頭小人症-進行性運動失調-インスリン抵抗性糖尿病-甲状腺腫-原発性内性器不全
type: Disease
type: C7057
has inheritance: HP_0000007

甲状腺機能低下症, 甲状腺性または無甲状腺性-針金状の毛髪-口蓋裂
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞症候群, Mietens-Weber 型
type: Disease
type: C7057
has inheritance: HP_0000007

Baller-Gerold 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

腺性口唇炎
type: Disease
type: C7057
has inheritance: HP_0000006

ニューロパチー, 遺伝性運動知覚-難聴-精神遅滞-知覚性大髄鞘化線維欠損
type: Disease
type: C7057
has inheritance: HP_0000007

片顔面肥大-斜視 (HFH)
type: Disease
type: C7057
has inheritance: HP_0000006

骨幹端先端杯状異形成
type: Disease
type: C7057
has inheritance: HP_0000007

免疫神経疾患, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001423

全前脳症-胎児運動欠如/低運動シークェンス
type: Disease
type: C7057
has inheritance: HP_0001417

Behr 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

小人症-関節拘縮-眼異常
type: Disease
type: C7057
has inheritance: HP_0000006

Beemer 致死性奇形症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Bartsocas-Papas 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

短指症, Mononen 型
type: Disease
type: C7057
has inheritance: HP_0001423

全四肢単指趾症
type: Disease
type: C7057
has inheritance: HP_0000006

MOMO 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

眼瞼弛緩症-二重上口唇
type: Disease
type: C7057
has inheritance: HP_0000006

菌状息肉症
type: Disease
type: C7057

眼瞼-鼻-顔面奇形症候群
type: Disease
type: C7057
has inheritance: HP_0000006

上顎鼻異形成, Binder 型
type: Disease
type: C7057
has inheritance: HP_0001425

筋萎縮-運動失調-色素性網膜炎-糖尿病
type: Disease
type: C7057
has inheritance: HP_0000006

MURCS 連合 (ミューラー管無形成-腎無形成-頚胸椎体節奇形)
type: Disease
type: C7057
has inheritance: HP_0003745

短指症-眼振-小脳性運動失調
type: Disease
type: C7057
has inheritance: HP_0000006

Mulibrey 小人症
type: Disease
type: C7057
has inheritance: HP_0000007

膵嚢胞性線維症- helicobacter pylori 胃炎-巨赤芽球性貧血-知能低下
type: Disease
type: C7057
has inheritance: HP_0000007

黄斑変性, 卵黄型, 2
type: Disease
type: C7057
has inheritance: HP_0000006

禿頭-てんかん-精神病症候群 (Moynahan)
type: Disease
type: C7057
has inheritance: HP_0000007

難聴-近視
type: Disease
type: C7057
has inheritance: HP_0000007

血管腫, 毛細血管乳児
type: Disease
type: C7057
has inheritance: HP_0000006

櫛けずれない毛髪-網膜色素ジストロフィー-歯異常-短指症
type: Disease
type: C7057
has inheritance: HP_0000006

ブーメラン型異形成
type: Disease
type: C7057
has inheritance: HP_0000006

Book 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

脳症-頭蓋内石灰化-成長ホルモン欠損症-小頭-網膜変性
type: Disease
type: C7057
has inheritance: HP_0000007

脳梁欠損-顔奇形-小脳失調
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄筋萎縮-進行性ミオクロニーてんかん
type: Disease
type: C7057
has inheritance: HP_0000007

眼瞼下垂-近視-異所性水晶体
type: Disease
type: C7057
has inheritance: HP_0000006

ミオクローヌス-小脳性運動失調-難聴
type: Disease
type: C7057
has inheritance: HP_0000006

Myhre 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

ミエロペルオキシダーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

運動失調-汎血球減少症候群
type: Disease
type: C7057
has inheritance: HP_0000006

遺伝性運動感覚ニューロパチー, 沖縄型
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺20, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

気管支軟化症
type: Disease
type: C7057

痙性対麻痺21, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

Liebenberg 症候群)
type: Disease
type: C7057
has inheritance: HP_0000006

短頭-難聴-白内障-小口-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0003745

Bowen 症候群, 多発奇形をもつ
type: Disease
type: C7057
has inheritance: HP_0000007

Bowen-Conradi 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

ミトコンドリア筋症-乳酸性アシドーシス
type: Disease
type: C7057
has inheritance: HP_0000007

ミトコンドリアミオパチー-糖尿病
type: Disease
type: C7057
has inheritance: HP_0001427

ニューロパチー, 遺伝性感覚および自律神経性, VI型
type: Disease
type: C7057
has inheritance: HP_0000007

ACTH 欠損症, 単独
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー-ジストログリカン症候群 (肢帯), C型, 4
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, 肢帯型, 常染色体劣性12
type: Disease
type: C7057
has inheritance: HP_0000007

軸前性短指症-内反母趾-外転母指
type: Disease
type: C7057
has inheritance: HP_0000006

高血圧-短指症 (HTNB)
type: Disease
type: C7057
has inheritance: HP_0000006

好中球免疫不全症候群
type: Disease
type: C7057

ニューロパチー, 遺伝性感覚および自律神経 VIII 型
type: Disease
type: C7057
has inheritance: HP_0000007

MYD88 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

鰓弓-眼-顔症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Lambert 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

末節骨短縮-特異顔貌-Kallmann 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

低身長-爪異形成-顔貌異常-寡毛症
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー-ジストログリカン症 (肢帯), C型, 3
type: Disease
type: C7057
has inheritance: HP_0000007

低身長-爪異形成-指趾骨異常症候群
type: Disease
type: C7057
has inheritance: HP_0000006

骨髄不全症候群1
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー-ジストログリカン症 (肢帯), C型, 2
type: Disease
type: C7057
has inheritance: HP_0000007

四肢近位短縮性点状軟骨異形成 3 型
type: Disease
type: C7057
has inheritance: HP_0000007

角質溶解性冬期紅斑
type: Disease
type: C7057
has inheritance: HP_0000006

軟骨異形成, Blomstrand 型
type: Disease
type: C7057
has inheritance: HP_0000007

Schopf-Schulz-Passarge 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

ミオパチー, X連鎖性, 過剰な自己貪食を伴う
type: Disease
type: C7057
has inheritance: HP_0001419

クリオハイドロサイト症
type: Disease
type: C7057
has inheritance: HP_0000006

トランスアルドラーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄筋萎縮症, 遠位, 常染色体劣性, 4
type: Disease
type: C7057
has inheritance: HP_0000007

ポリグルコサン小体ニューロパチー, 成人型
type: Disease
type: C7057
has inheritance: HP_0000007

下痢症6
type: Disease
type: C7057
has inheritance: HP_0000006

メコニウムイレウス
type: Disease
type: C7057
has inheritance: HP_0000007

下垂体腺腫4, ACTH 分泌性
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

下顎顔面異骨症-禿頭
type: Disease
type: C7057
has inheritance: HP_0000006

高アルドステロン症, 家族性I型)
type: Disease
type: C7057
has inheritance: HP_0000006

高アルドステロン症, 家族性, II 型
type: Disease
type: C7057
has inheritance: HP_0000006

グリシン脳症
type: Disease
type: C7057
has inheritance: HP_0000007

てんかん性脳症, 早期乳児性, 9
type: Disease
type: C7057
has inheritance: HP_0001417

過角化症, 恒久性網状 (HLP)
type: Disease
type: C7057
has inheritance: HP_0000006

てんかん, 良性後頭 (BOE)
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺30, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

痙性対麻痺 31, 常染色体優性 (SPG31)
type: Disease
type: C7057
has inheritance: HP_0000006

キロミクロン血症, 家族性, リポ蛋白リパーゼの循環性抑制因子による
type: Disease
type: C7057
has inheritance: HP_0000006

脳回萎縮, 脈絡膜および網膜
type: Disease
type: C7057
has inheritance: HP_0000007

高オルニチン血症-高アンモニア血症-ホモシトルリン尿症候群
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺 23
type: Disease
type: C7057
has inheritance: HP_0000007

副甲状腺機能亢進症, 新生児重症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

痙性対麻痺25, 常染色体劣性-椎間板ヘルニア(SPG25)
type: Disease
type: C7057
has inheritance: HP_0000007

高プロリン血症 I 型
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺26, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺28, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺29, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003743

Shaaf-Yang 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Hermansky-Pudlak 症候群 8
type: Disease
type: C7057
has inheritance: HP_0000007

甲状腺機能亢進症, 非自己免疫
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

軟骨低形成症
type: Disease
type: C7057
has inheritance: HP_0000006

QT 延長症候群1 (LQT1)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Hermansky-Pudlak 症候群 7
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 筋萎縮症, X連鎖性優性, 1
type: Disease
type: C7057
has inheritance: HP_0001419
has inheritance: HP_0001423

二分鼻-腎無発生-肛門直腸奇形
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, X連鎖劣性, 2
type: Disease
type: C7057
has inheritance: HP_0001419

Charcot-Marie-Tooth 病, X連鎖劣性, 3
type: Disease
type: C7057
has inheritance: HP_0001419

ニューロパチー, 運動感覚性, II 型-難聴-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0001419

多小脳回, 両側性前頭頭頂部
type: Disease
type: C7057
has inheritance: HP_0000007

魚鱗癬-男性性腺機能低下症
type: Disease
type: C7057
has inheritance: HP_0001417

低色素症, 伊藤
type: Disease
type: C7057
has inheritance: HP_0001425
has inheritance: HP_0001442

角膜ジストロフィー, 先天性実質性
type: Disease
type: C7057
has inheritance: HP_0000006

右心室低形成
type: Disease
type: C7057
has inheritance: HP_0000007

栄養障害型表皮水泡症, Pasini 型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病, 脱髄性, 1B 型 (CMT1)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Charcot-Marie-Tooth 病,脱髄性, 1C 型 (CMT1C)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Charcot-Marie-Tooth 病, 脱髄性, 1D 型
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Charcot-Marie-Tooth 病, 脱髄性, 1F型
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007
has inheritance: HP_0001425

免疫不全-IgM高値
type: Disease
type: C7057
has inheritance: HP_0001419

免疫不全-IgM高値2型
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, 脱髄性, 1A 型
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Charcot-Marie-Tooth 病, 軸索性, 2T
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

モクロマトーシス, 新生児
type: Disease
type: C7057
has inheritance: HP_0000007

表皮水泡症, 遅発性限局性連結部-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

低カルシウム尿性高カルシウム血症, 家族性, III 型 (HHC3)
type: Disease
type: C7057
has inheritance: HP_0000006

滑脳症, X連鎖性, 2
type: Disease
type: C7057
has inheritance: HP_0001417

水疱性魚鱗癬, Siemens;
type: Disease
type: C7057
has inheritance: HP_0000006

脳室拡大, 嚢胞性腎疾患を伴う
type: Disease
type: C7057
has inheritance: HP_0000007

魚鱗癬, 先天性, 常染色体劣性4B
type: Disease
type: C7057
has inheritance: HP_0000007

てんかん, 家族性側頭葉, 1
type: Disease
type: C7057
has inheritance: HP_0000006

低カルシウム尿性高カルシウム血症, 家族性 II 型 (HHC2)
type: Disease
type: C7057
has inheritance: HP_0000006

内臓逆位5, 常染色体性 (HTX5)
type: Disease
type: C7057
has inheritance: HP_0000006

魚鱗癬, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001419

色素失調症
type: Disease
type: C7057
has inheritance: HP_0001423

Plasminogen activator inhibitor-1 欠損症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

家族性致死性不眠 (FFI)
type: Disease
type: C7057
has inheritance: HP_0000006

果糖不耐症, 遺伝性
type: Disease
type: C7057
has inheritance: HP_0000007

リジン蛋白不耐症
type: Disease
type: C7057
has inheritance: HP_0000007

Kearns-Sayres 症候群 (KSS)
type: Disease
type: C7057
has inheritance: HP_0001427

球脊髄性筋萎縮,X連鎖性1
type: Disease
type: C7057
has inheritance: HP_0001419

Flaujeac 因子欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

小脳性運動失調-難聴-ナルコレプシー, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

Kniest 異形成
type: Disease
type: C7057
has inheritance: HP_0000006

Krabbe 病
type: Disease
type: C7057
has inheritance: HP_0000007

卵形赤血球症, 東南アジア型
type: Disease
type: C7057
has inheritance: HP_0000006

熱変形赤血球症
type: Disease
type: C7057
has inheritance: HP_0000007

繊毛ジスキネジア, 原発性, 1 (CILD1)
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

Emery-Dreifuss 型筋ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0001419

難聴, 先天性-角化性強皮症-指趾絞扼
type: Disease
type: C7057
has inheritance: HP_0000006

萎縮性毛孔性角化症
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳性運動失調 43
type: Disease
type: C7057
has inheritance: HP_0000006

Chiari 奇形 I 型 (CM1)
type: Disease
type: C7057
has inheritance: HP_0000006

補体 I 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, 2B1 型
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

肺臓炎, 家族性剥脱性間質 (DIP)
type: Disease
type: C7057
has inheritance: HP_0000007

出血性疾患, 血小板型, 9
type: Disease
type: C7057
has inheritance: HP_0000006

出血性疾患, 血小板型, 11
type: Disease
type: C7057
has inheritance: HP_0000007

無フィブリノーゲン血症, 先天性
type: Disease
type: C7057
has inheritance: HP_0000007

フィブリノーゲン異常血症, 先天性
type: Disease
type: C7057

Nestor-Guillermo プロゲリア症候群)
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロパチー, 遺伝性感覚性-痙性対麻痺
type: Disease
type: C7057
has inheritance: HP_0000007

貧血, 先天性赤血球造血異常性, IV型
type: Disease
type: C7057
has inheritance: HP_0000006

右房イソメリズム
type: Disease
type: C7057
has inheritance: HP_0000007

血友病 B
type: Disease
type: C7057
has inheritance: HP_0001419

貧血, 先天性赤血球産生異常性, II 型
type: Disease
type: C7057
has inheritance: HP_0000007

ズダン好性大脳硬化症
type: Disease
type: C7057
has inheritance: HP_0000007

一過性赤芽球減少, 小児
type: Disease
type: C7057
has inheritance: HP_0000007

貧血, 先天性赤血球造血異常性, III
type: Disease
type: C7057
has inheritance: HP_0000006

口腔顔面指趾症候群XIV
type: Disease
type: C7057
has inheritance: HP_0000007

難聴, X連鎖性5
type: Disease
type: C7057
has inheritance: HP_0001419

Warsaw 染色体断裂症候群
type: Disease
type: C7057
has inheritance: HP_0000007

ミオパチー, 筋原線維性, 致死性乳児筋緊張亢進性, alpha-B crystallin 関連
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, Becker 型
type: Disease
type: C7057
has inheritance: HP_0001419

筋ジストロフィー-ジストログリカン症 (先天性, 脳および眼奇形) B型, 6
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, Duchenne 型
type: Disease
type: C7057
has inheritance: HP_0001419

視神経萎縮2
type: Disease
type: C7057
has inheritance: HP_0001417

筋ジストロフィー, 先天性, 1B
type: Disease
type: C7057
has inheritance: HP_0000007

脳症, 進行性, 早期発症-脳浮腫+/-白質脳症
type: Disease
type: C7057
has inheritance: HP_0000007

偽性高カリウム血症, 家族性, 2, 赤血球もれによる
type: Disease
type: C7057
has inheritance: HP_0000006

葉酸吸収不全, 遺伝性
type: Disease
type: C7057
has inheritance: HP_0000007

赤血球増多症, 家族性, 1
type: Disease
type: C7057
has inheritance: HP_0000006

高カロチン血症およびビタミンA欠乏症, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

溶血性貧血, 非球状赤血球性, ヘキソキナーゼ欠損症による
type: Disease
type: C7057
has inheritance: HP_0000007

血管脂肪腫症, 家族性
type: Disease
type: C7057
has inheritance: HP_0000007

脂肪腫症, 多発性
type: Disease
type: C7057
has inheritance: HP_0000006

角化異常症, 遺伝性良性上皮内 (DKBI)
type: Disease
type: C7057
has inheritance: HP_0000006

埋没眼球, 片側性または両側性単独性
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺79, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

弛緩性皮膚, 新生児-マルファン様表現型
type: Disease
type: C7057
has inheritance: HP_0000006

N 症候群
type: Disease
type: C7057
has inheritance: HP_0001417

爪膝蓋骨症候群 (NPS; NPS1)
type: Disease
type: C7057
has inheritance: HP_0000006

爪-膝蓋様腎疾患
type: Disease
type: C7057
has inheritance: HP_0000007

Schimmerlpenning-Feuerstein-Mims 症候群
type: Disease
type: C7057
has inheritance: HP_0001442

Charcot-Marie-Tooth 病, 優性中間 F
type: Disease
type: C7057
has inheritance: HP_0000006

軟骨異形成-関節脱臼, GPAPP 型
type: Disease
type: C7057
has inheritance: HP_0000007

Mseleni 関節病
type: Disease
type: C7057

鳥頭小人症, Montreal 型
type: Disease
type: C7057
has inheritance: HP_0000007

ジストニア 6, 捻転 (DYT6)
type: Disease
type: C7057
has inheritance: HP_0000006

変形性筋緊張異常 4 (DYT4)
type: Disease
type: C7057
has inheritance: HP_0000006

けいれん, 家族性乳児-発作性舞踏病性アテトーゼ
type: Disease
type: C7057
has inheritance: HP_0000006

無毛症-丘疹性病変 (APL)
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, X連鎖性優性, 6
type: Disease
type: C7057
has inheritance: HP_0001423

Adenylate kinase 欠乏症による溶血性貧血
type: Disease
type: C7057
has inheritance: HP_0000007

AMME 複合
type: Disease
type: C7057
has inheritance: HP_0001466

滑脳症症候群 III 型
type: Disease
type: C7057
has inheritance: HP_0000007

肺静脈閉塞性疾患2, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

滑脳症5
type: Disease
type: C7057
has inheritance: HP_0000007

外胚葉形成不全/低身長症候群
type: Disease
type: C7057
has inheritance: HP_0000007

涙腺および唾液線欠損
type: Disease
type: C7057
has inheritance: HP_0000006

変形性異形成
type: Disease
type: C7057
has inheritance: HP_0000006

無アルブミン血症
type: Disease
type: C7057
has inheritance: HP_0000007

Sveinsson 脈絡膜網膜萎縮
type: Disease
type: C7057
has inheritance: HP_0000006

尺骨および腓骨低形成
type: Disease
type: C7057
has inheritance: HP_0000006

Nievergelt 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Langer 四肢中部短縮性異形成
type: Disease
type: C7057
has inheritance: HP_0000007

膝窩翼状片症候群 (PPS)
type: Disease
type: C7057
has inheritance: HP_0000006

四肢中部短縮および湾曲
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー-ジストログリカン症 (肢帯), C型, 1
type: Disease
type: C7057
has inheritance: HP_0000007

C 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

腓骨無形成-複合短指
type: Disease
type: C7057
has inheritance: HP_0000007

裂手裂足奇形3
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Buschke-Ollendorff 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

小頭骨異形成原発性小人症 II
type: Disease
type: C7057
has inheritance: HP_0000007

小人症-精神遅滞-眼異常
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞-前部上顎突出-斜視
type: Disease
type: C7057
has inheritance: HP_0000007

捩れ小人症
type: Disease
type: C7057
has inheritance: HP_0000006

中空骨異形成
type: Disease
type: C7057
has inheritance: HP_0000006

脈絡叢石灰化-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

小頭性原発性小人症, Toriello 型
type: Disease
type: C7057
has inheritance: HP_0000007

Caffey 病
type: Disease
type: C7057
has inheritance: HP_0000006

脊椎骨端骨幹端異形成, 小肢性
type: Disease
type: C7057
has inheritance: HP_0000007

5q 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0001428
has inheritance: HP_0001452
has inheritance: HP_0003745

てんかん, 家族性後頭葉, 2
type: Disease
type: C7057
has inheritance: HP_0000006

屈短指症
type: Disease
type: C7057
has inheritance: HP_0000006

てんかん, 巣状, 言語障害を伴う +/- 精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

湾曲肢異形成(CMD1; CMPD1)
type: Disease
type: C7057
has inheritance: HP_0000007

てんかん, 進行性ミオクローヌス7
type: Disease
type: C7057
has inheritance: HP_0000006

GLUT1 欠乏症候群 2 (GLUT1DS2)
type: Disease
type: C7057
has inheritance: HP_0000006

発作性 nonkinesigenic ジスキネジア (PNKD)
type: Disease
type: C7057
has inheritance: HP_0000006

ムコリピドーシス III γ
type: Disease
type: C7057
has inheritance: HP_0000007

Lenz-Majewski 過骨性小人症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

屈指症候群, Guadalajara 型 I
type: Disease
type: C7057
has inheritance: HP_0000007

屈指症候群, Guadalajara 型 II
type: Disease
type: C7057
has inheritance: HP_0000007

靭帯結合異形成性小人症
type: Disease
type: C7057
has inheritance: HP_0000007

屈指-近視-目内直筋線維症
type: Disease
type: C7057

屈指-線維組織過形成-骨異形成
type: Disease
type: C7057
has inheritance: HP_0000007

ジストニア, 進行性, 昼間の変動を伴う
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007
has inheritance: HP_0001425

ジストニア13, 捻転, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

発作性運動誘発性ジスキネジア1
type: Disease
type: C7057
has inheritance: HP_0000006

Camurati-Engelmann 病 (CED)
type: Disease
type: C7057
has inheritance: HP_0000006

橋小脳低形成10型
type: Disease
type: C7057
has inheritance: HP_0000007

表皮水疱症, 致死性棘融解性
type: Disease
type: C7057
has inheritance: HP_0000007

Keooen-Lubinsky 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

脳症, 反復性, 小児
type: Disease
type: C7057
has inheritance: HP_0000006

Pierson 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

先天性心奇形-舌過誤腫-多合指症
type: Disease
type: C7057
has inheritance: HP_0000007

ネフローゼ-難聴-尿路/指趾奇形
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001423

腎症-難聴-副甲状腺機能亢進
type: Disease
type: C7057
has inheritance: HP_0000007

過角化症-色素沈着症候群
type: Disease
type: C7057

胸郭腹部症候群
type: Disease
type: C7057
has inheritance: HP_0001417

小頭-先天性白内障-乾癬型皮膚炎
type: Disease
type: C7057
has inheritance: HP_0000007

多核ニューロン-羊水欠損-腎異形成-小脳低形成-水無脳症
type: Disease
type: C7057
has inheritance: HP_0000007

Nathalie 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺78, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

心先端顔症候群
type: Disease
type: C7057
has inheritance: HP_0000006

心房心室中隔欠損-瞼裂狭小-橈骨欠損
type: Disease
type: C7057
has inheritance: HP_0000007

Muenke 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

カフェオーレ斑, 多発性
type: Disease
type: C7057
has inheritance: HP_0000006

いとすぎ顔面神経筋骨格症候群
type: Disease
type: C7057

心手症候群, スペイン型
type: Disease
type: C7057
has inheritance: HP_0000006

神経顔指腎症候群
type: Disease
type: C7057
has inheritance: HP_0000007

単純型表皮水疱症-移動性輪状紅斑
type: Disease
type: C7057

単純型表皮水泡症-幽門閉塞
type: Disease
type: C7057
has inheritance: HP_0000007

カルノシン血症
type: Disease
type: C7057
has inheritance: HP_0000007

Carey-Fineman-Ziter 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

好中球減少, 非免疫性慢性本態性, 成人
type: Disease
type: C7057
has inheritance: HP_0000006

周期性好中球減少
type: Disease
type: C7057
has inheritance: HP_0000006

園田症候群
type: Disease
type: C7057
has inheritance: HP_0000007

心骨格症候群, クウェート型
type: Disease
type: C7057
has inheritance: HP_0000007

Gaucher 病 I 型 (GD I)
type: Disease
type: C7057
has inheritance: HP_0000007

ZTTK 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

リポジストロフィー, 家族性, 部分, 5型
type: Disease
type: C7057
has inheritance: HP_0000007

Skraban-Deardorff 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

白内障-異所性口腔小帯-成長遅延
type: Disease
type: C7057
has inheritance: HP_0000006

Sengers 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

心筋症-性腺機能低下-コラゲノーマ症候群
type: Disease
type: C7057
has inheritance: HP_0000006

上口唇の正中結節
type: Disease
type: C7057
has inheritance: HP_0000006

白内障-運動失調-難聴-精神遅滞症候群
type: Disease
type: C7057
has inheritance: HP_0000007

ナックルパッド-爪甲白斑-感音性難聴
type: Disease
type: C7057
has inheritance: HP_0000006

掌蹠角皮症と先天性禿頭2
type: Disease
type: C7057
has inheritance: HP_0000007

脳症, 進行性, 早期発症-脳萎縮-痙性
type: Disease
type: C7057
has inheritance: HP_0000007

3q29 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

膵および小脳無発生
type: Disease
type: C7057
has inheritance: HP_0000007

Beta-ureidopropionase 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

眼耳前頭鼻症候群
type: Disease
type: C7057

Crome 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

白内障-先天性魚鱗癬
type: Disease
type: C7057
has inheritance: HP_0000007

多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形
type: Disease
type: C7057
has inheritance: HP_0000007

CAHMR 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺 37, 常染色体優性 (SPG37)
type: Disease
type: C7057
has inheritance: HP_0000006

拡張型心筋症-羊毛様毛髪-角皮症
type: Disease
type: C7057
has inheritance: HP_0000007

チアミン代謝異常症候群2 (ビオチンまたはチアミン反応型)
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞, 常染色体優性44
type: Disease
type: C7057
has inheritance: HP_0000006

QT 延長症候群-合指症
type: Disease
type: C7057
has inheritance: HP_0000006

脳腎指症候群-四肢奇形-三角寛骨臼
type: Disease
type: C7057

痙性対麻痺34, X連鎖性 (SPG34)
type: Disease
type: C7057
has inheritance: HP_0001419

頭蓋顔面形態異常-骨格奇形-精神遅滞症候群
type: Disease
type: C7057
has inheritance: HP_0000007

大脳肋骨下顎症候群
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞, 常染色体優性48
type: Disease
type: C7057
has inheritance: HP_0000006

Gaucher 病 II 型 (GD II)
type: Disease
type: C7057
has inheritance: HP_0000007

Gaucher 病 III 型 (GD III)
type: Disease
type: C7057
has inheritance: HP_0000007

皮質盲-精神遅滞-軸後性多指症
type: Disease
type: C7057
has inheritance: HP_0000007

Catel-Manzke 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Martsolf 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

層状顔面皮膚異形成2, Brauer-Setleis 型
type: Disease
type: C7057

Xq27.3-q28 重複症候群
type: Disease
type: C7057
has inheritance: HP_0001419

シスチン症, 若年性発症または思春期腎症型
type: Disease
type: C7057
has inheritance: HP_0000007

外胚葉形成不全/皮膚脆弱症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Niemann- Pick 病 (NPD)
type: Disease
type: C7057
has inheritance: HP_0000007

Niemann-Pick 病B型
type: Disease
type: C7057
has inheritance: HP_0000007

内前頭骨硬化症
type: Disease
type: C7057
has inheritance: HP_0000006

Majeed 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳失調, 常染色体劣性, 21
type: Disease
type: C7057
has inheritance: HP_0000007

小眼球, 症候群性3 (MCOPS3)
type: Disease
type: C7057
has inheritance: HP_0000006

小眼球症, 症候性 10
type: Disease
type: C7057

Richard-Rundle 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞, X連鎖性, 症候群性34
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

小脳低形成
type: Disease
type: C7057
has inheritance: HP_0000007

水頭症-小脳無形成
type: Disease
type: C7057
has inheritance: HP_0001417

シスチン症, 成人非腎症性
type: Disease
type: C7057
has inheritance: HP_0000007

MACS 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Xq21 欠失症候群
type: Disease
type: C7057

高尿酸血症性腎症, 家族性若年性, 2
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺35, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺32, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

ミオクロニーてんかん Lafora
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

毛髪鼻指趾症候群 II 型
type: Disease
type: C7057
has inheritance: HP_0000006

Larsen 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Leigh 症候群
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425
has inheritance: HP_0001427

免疫不全46
type: Disease
type: C7057
has inheritance: HP_0000007

Donohue 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

神経変性症, 小児期発症-脳萎縮
type: Disease
type: C7057
has inheritance: HP_0000006

19q13.11 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

17q21.31 重複症候群
type: Disease
type: C7057

脊髄筋萎縮症, 遠位, 常染色体劣性5
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, 軸索性, 2Z型
type: Disease
type: C7057
has inheritance: HP_0000006

全前脳症1
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

Lesch- Nyhan 症候群 (LNS)
type: Disease
type: C7057
has inheritance: HP_0001419

メープルシロップ尿症
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全13
type: Disease
type: C7057
has inheritance: HP_0000006

免疫不全8
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロン症, 遠位遺伝性運動, VA型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病, 軸索性, 2X型
type: Disease
type: C7057
has inheritance: HP_0000007

混合性酸化的リン酸化欠乏症28
type: Disease
type: C7057
has inheritance: HP_0000007

8q21.11 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

脊髄性筋萎縮症, 遠位, 常染色体劣性, 3 (DSMA3)
type: Disease
type: C7057
has inheritance: HP_0000007

リポイドタンパク症, Urbach and Wiethe
type: Disease
type: C7057
has inheritance: HP_0000007

Miller-Dieker 滑脳症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001466

Phosphatidylinositol 4, 5-bisphosphate 5-phosphatase deficiency
type: Disease
type: C7057
has inheritance: HP_0001419

紅斑性狼瘡, 全身性 (SLE)
type: Disease
type: C7057
has inheritance: HP_0000006

リンパ脈管平滑筋腫症
type: Disease
type: C7057
has inheritance: HP_0001428

単独成長ホルモン欠損症 IA 型
type: Disease
type: C7057
has inheritance: HP_0000007

遠位脊髄性筋萎縮, 常染色体劣性2
type: Disease
type: C7057
has inheritance: HP_0000007

限局性顔皮膚異形成4
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳失調, 常染色体劣性15
type: Disease
type: C7057
has inheritance: HP_0000007

Xp11.23-p11.22 重複症候群
type: Disease
type: C7057
has inheritance: HP_0001423

脊髄性筋萎縮, 遠位, X連鎖性 3
type: Disease
type: C7057
has inheritance: HP_0001419

肝不全, 乳児性, 一過性
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳失調症, 常染色体劣性23
type: Disease
type: C7057
has inheritance: HP_0000007

細網症, 家族性組織球性
type: Disease
type: C7057
has inheritance: HP_0000007

頭蓋縫合早期癒合症-歯奇形
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロパチー, 遺伝性感覚, I 型-咳嗽および胃食道逆流
type: Disease
type: C7057
has inheritance: HP_0000006

橈尺骨癒合-その他の骨格および頭蓋顔面奇形
type: Disease
type: C7057
has inheritance: HP_0000007

染色体 17p13.3, 動原体性, 重複症候群
type: Disease
type: C7057

単独成長ホルモン欠損症 III 型-無ガンマグロブリン血症
type: Disease
type: C7057
has inheritance: HP_0001419

神経変性症, 脳葉酸輸送障害による
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺 77, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

ミトコンドリア性ミオパチー-脳症-乳酸性アシドーシス-発作エピソード (MELAS)
type: Disease
type: C7057
has inheritance: HP_0001427

ミオクローヌスてんかん-ぼろきれ赤筋
type: Disease
type: C7057
has inheritance: HP_0001427

成人型糖尿病, 若年発症 (MODY)
type: Disease
type: C7057

乳酸輸送障害による筋症
type: Disease
type: C7057
has inheritance: HP_0000006

Marinesco-Sjogren 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

パーキンソン病 15, 常染色体劣性 (PARK15)
type: Disease
type: C7057
has inheritance: HP_0000007

チアミン代謝機能障害症候群4 (緑内障線条体変性および進行性ポリニューロパチー型)
type: Disease
type: C7057
has inheritance: HP_0000007

高 IgE 性反復性感染症候群, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

Marshall 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

単独成長ホルモン欠損症 II 型 (IGHDD2)
type: Disease
type: C7057
has inheritance: HP_0000006

Marshall- Smith 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

McCune-Albright 症候群 (MAS)
type: Disease
type: C7057
has inheritance: HP_0001442

Menkes 病
type: Disease
type: C7057
has inheritance: HP_0001419

小瞳孔症, 先天性
type: Disease
type: C7057
has inheritance: HP_0000006

滑脳症 3 (LIS3)
type: Disease
type: C7057
has inheritance: HP_0000006

単独成長ホルモン欠乏症 IB 型
type: Disease
type: C7057
has inheritance: HP_0000007

先天性グリコシル化異常症 Ip
type: Disease
type: C7057
has inheritance: HP_0000007

Moebius 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

不全リンパ球症候群 II 型
type: Disease
type: C7057
has inheritance: HP_0000007

連珠毛
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Muckle-Wells 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

ムコリピドーシス II α/β
type: Disease
type: C7057
has inheritance: HP_0000007

ムコリピドーシス IV
type: Disease
type: C7057
has inheritance: HP_0000007

Hermansky-Pudlak 症候群2
type: Disease
type: C7057
has inheritance: HP_0000007

免疫グロブリンκ軽鎖欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロン症, 遠位遺伝性運動, I 型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病 4J (CMT4J)
type: Disease
type: C7057
has inheritance: HP_0000007

黄斑ジストロフィー, パターン型, 3
type: Disease
type: C7057
has inheritance: HP_0000006

尿細管間質性腎炎-ブドウ膜炎
type: Disease
type: C7057
has inheritance: HP_0003745

ムコ多糖症 II 型
type: Disease
type: C7057
has inheritance: HP_0001419

ムコ多糖症 VI
type: Disease
type: C7057
has inheritance: HP_0000007

ムコ多糖症 VII
type: Disease
type: C7057
has inheritance: HP_0000007

多発性スルファターゼ欠損症 (MSD)
type: Disease
type: C7057
has inheritance: HP_0000007

嚢胞性線維症 (CF)
type: Disease
type: C7057
has inheritance: HP_0000007

Muir-Torre 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

重症筋無力症
type: Disease
type: C7057
has inheritance: HP_0001426

角膜ジストロフィー, 斑点状
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞, 常染色体優性23
type: Disease
type: C7057
has inheritance: HP_0000006

Tatton-Brown-Rahman 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

角膜ジストロフィー, 格子状 I (CDL1)
type: Disease
type: C7057
has inheritance: HP_0000006

Schnyder 先天性角膜ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000006

角膜ジストロフィー, Bowman 層, I 型
type: Disease
type: C7057
has inheritance: HP_0000006

角膜ジストロフィー, Thiel-Behnke 型
type: Disease
type: C7057
has inheritance: HP_0000006

角膜ジストロフィー, Avellino 型 (CDA)
type: Disease
type: C7057
has inheritance: HP_0000006

Groenouw I 型角膜ジストロフィー (CDGG1)
type: Disease
type: C7057
has inheritance: HP_0000006

ミオパチー, 中心核, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001419

セントラルコア病,筋 (CCD; CCO)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

ヘモクロマトーシス 4 型
type: Disease
type: C7057
has inheritance: HP_0000006

Gabriele-de Vries 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

小頭症, 進行性-けいれん-大脳および小脳萎縮
type: Disease
type: C7057
has inheritance: HP_0000007

角膜ジストロフィー, ゼラチン滴様 (GDLD)
type: Disease
type: C7057
has inheritance: HP_0000007

角膜ジストロフィー, 上皮下粘液性
type: Disease
type: C7057
has inheritance: HP_0000006

角膜ジストロフィー, 上皮基底膜
type: Disease
type: C7057
has inheritance: HP_0000006

神経伝導速度遅延, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

皮質奇形, 後頭葉
type: Disease
type: C7057
has inheritance: HP_0000007

白内障46, 若年発症
type: Disease
type: C7057
has inheritance: HP_0000007

巣状皮質異形成 II 型
type: Disease
type: C7057
has inheritance: HP_0001428
has inheritance: HP_0003745

白内障8, 多型性
type: Disease
type: C7057
has inheritance: HP_0000006

7q11.23 欠失症候群, 遠位, 1.2-MB
type: Disease
type: C7057

先天多発形-筋緊張低下-けいれん症候群1
type: Disease
type: C7057
has inheritance: HP_0000007

痙性運動失調 4, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

Adie 瞳孔
type: Disease
type: C7057

角膜ジストロフィー, 中心性
type: Disease
type: C7057
has inheritance: HP_0000007

筋ジストロフィー, 肢帯型, 常染色体劣性17
type: Disease
type: C7057
has inheritance: HP_0000007

角膜ジストロフィー, 後部無定形
type: Disease
type: C7057
has inheritance: HP_0000006

角膜斑点状ジストロフィー (CFD)
type: Disease
type: C7057
has inheritance: HP_0000006

てんかん, 進行性ミオクローヌス6
type: Disease
type: C7057
has inheritance: HP_0000007

セロイドリポフスシン症, 神経性, 13
type: Disease
type: C7057
has inheritance: HP_0000007

顔貌異常-免疫不全-リビド-低身長
type: Disease
type: C7057
has inheritance: HP_0000007

網膜ジストロフィー-虹彩コロボーマ-面皰形成性 瘡
type: Disease
type: C7057
has inheritance: HP_0000007

血管奇形, 原発性骨内
type: Disease
type: C7057
has inheritance: HP_0000007

ベストロフィン症, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

EDICT 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

小耳-鼻涙管閉鎖-眼コロボーマ
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞, 常染色体優性19
type: Disease
type: C7057
has inheritance: HP_0000006

Kagami-Ogata 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

Phelan-McDermid 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

46,XX 性逆転-腎, 副腎, 肺異発生
type: Disease
type: C7057
has inheritance: HP_0000007

チアミン代謝機能障害症候群5 (エピソード性脳症型)
type: Disease
type: C7057
has inheritance: HP_0000007

多臓器平滑筋機能障害症候群
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺49, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺54, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

卵母細胞成熟障害1
type: Disease
type: C7057
has inheritance: HP_0000007

モヤモヤ病4-低身長-高ゴナドトロピン性性腺機能低下症
type: Disease
type: C7057
has inheritance: HP_0001419

小眼球症, 症候群性 6
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー, 先天性, 巨円錐体型
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001427

両眼隔離-耳介前瘻-耳介前小孔-難聴
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺55, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

眼皮膚型白皮症 VII 型
type: Disease
type: C7057
has inheritance: HP_0000007

先天性脱グリコシル化症
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対不全麻痺46, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

低インスリン血症性低血糖-半身肥大
type: Disease
type: C7057
has inheritance: HP_0000006

17q11.2 欠失症候群, 1.4-Mb
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

白皮症, 眼性-感音性難聴
type: Disease
type: C7057

痙性対麻痺39, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

Hermansky-Pudlak 症候群9
type: Disease
type: C7057
has inheritance: HP_0000007

Helsmoortel-van der Aa 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

コエンザイムQ10 欠乏症, 原発性, 4
type: Disease
type: C7057
has inheritance: HP_0000007

第4脳神経麻痺, 家族性先天性
type: Disease
type: C7057
has inheritance: HP_0000006

硝子体網膜変性, 雪結晶型
type: Disease
type: C7057
has inheritance: HP_0000006

黄斑コロボーマ-骨格異常
type: Disease
type: C7057
has inheritance: HP_0000007

水晶体核硬化症
type: Disease
type: C7057
has inheritance: HP_0000007

致死性先天性関節拘縮症候群5型
type: Disease
type: C7057
has inheritance: HP_0000007

Rutherfurd 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Kaufman 眼脳顔症候群
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺41, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

脳症, 進行性 +/- リポジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000007

下顎肢端異形成-B型リポジストロフィー(MADB)
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

下顎肢端異形成-A型リポジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺43, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

巨大角膜
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001417
has inheritance: HP_0001419

環状類皮腫, 角膜
type: Disease
type: C7057
has inheritance: HP_0000006

中手骨/中足骨短縮-無歯-寡毛症-類白皮症
type: Disease
type: C7057
has inheritance: HP_0000007

Temtamy 軸前性短指症候群
type: Disease
type: C7057
has inheritance: HP_0000007

眼歯指趾異形成 (ODDD)
type: Disease
type: C7057
has inheritance: HP_0000006

眼脳症候群-低色素
type: Disease
type: C7057
has inheritance: HP_0000007

眼毛髪異形成
type: Disease
type: C7057
has inheritance: HP_0000007

Manitoba 眼毛髪肛門症候群
type: Disease
type: C7057
has inheritance: HP_0000007

脳幹および脊髄低髄鞘化-下肢形成
type: Disease
type: C7057
has inheritance: HP_0000007

眼-腎-小脳症候群
type: Disease
type: C7057
has inheritance: HP_0000007

眼-口蓋-脳小人症候群
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺 36, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

リンパ管奇形5
type: Disease
type: C7057
has inheritance: HP_0000006

ネマリンミオパチー5
type: Disease
type: C7057
has inheritance: HP_0000007

ミニコアミオパチー-外眼筋麻痺
type: Disease
type: C7057
has inheritance: HP_0000007

掌蹠角化症-弯指
type: Disease
type: C7057
has inheritance: HP_0000006

歯牙腫-嚥下困難症候群
type: Disease
type: C7057
has inheritance: HP_0000006

McLeod 症候群
type: Disease
type: C7057
has inheritance: HP_0001417

四肢欠損-外胚葉異形成-耳介変形-その他異常
type: Disease
type: C7057
has inheritance: HP_0000007

角皮症, 掌蹠, Norrbotten 劣性型
type: Disease
type: C7057
has inheritance: HP_0000007

歯爪皮膚異形成
type: Disease
type: C7057
has inheritance: HP_0000007

眼脳性低色素症候群, Preus
type: Disease
type: C7057
has inheritance: HP_0000007

網状色素沈着皮膚症 (DPR)
type: Disease
type: C7057
has inheritance: HP_0000006

魚鱗癬-白血球空胞-禿頭-硬化性胆管炎 (ILVASC)
type: Disease
type: C7057
has inheritance: HP_0000007

水腎症, 先天性-口蓋裂-顔貌異常-筋緊張低下-精神遅滞
type: Disease
type: C7057

Ohdo 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

多発性ミトコンドリア機能障害症候群3
type: Disease
type: C7057
has inheritance: HP_0000007

Al-Gazali 症候群
type: Disease
type: C7057

リンパ浮腫-大脳動静脈奇形
type: Disease
type: C7057
has inheritance: HP_0000006

リンパ浮腫-中隔欠損-顔貌異常
type: Disease
type: C7057
has inheritance: HP_0000007

CHAND 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

歯欠損, 先天性-タウロドント-疎な毛髪
type: Disease
type: C7057
has inheritance: HP_0000007

軸後性乏指症, 四肢性
type: Disease
type: C7057
has inheritance: HP_0000006

羊毛状毛髪-寡毛症-下口唇外反-目立つ耳介
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳虫部失調症, 常染色体劣性18
type: Disease
type: C7057
has inheritance: HP_0000007

毛髪異常-日光過敏症-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

爪-毛髪異形成-好中球減少
type: Disease
type: C7057
has inheritance: HP_0000007

臍帯ヘルニア-口蓋裂症候群, 致死性
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄性筋萎縮症, 遠位, 常染色体劣性, 1
type: Disease
type: C7057
has inheritance: HP_0000007

骨成熟遅延性異形成
type: Disease
type: C7057
has inheritance: HP_0000007

Hardikar 症候群
type: Disease
type: C7057
has inheritance: HP_0003745

胆汁うっ滞-リンパ浮腫症候群 (CHLS)
type: Disease
type: C7057
has inheritance: HP_0000007

眼筋麻痺, 進行性-陰嚢様舌-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

距骨 / 踵骨癒合症-低身長
type: Disease
type: C7057
has inheritance: HP_0000006

眼下顎四肢異形成
type: Disease
type: C7057
has inheritance: HP_0000006

Beaulieu-Boycott-Innes 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

軟骨石灰化症 2 (CCAL2)
type: Disease
type: C7057
has inheritance: HP_0000006

Carney 複合バリアント
type: Disease
type: C7057
has inheritance: HP_0000006

ミオパチー, 筋原線維性, 4
type: Disease
type: C7057
has inheritance: HP_0000006

ミオパチー, 筋原線維性, 3
type: Disease
type: C7057
has inheritance: HP_0000006

OSLAM 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Greenberg 異形成
type: Disease
type: C7057
has inheritance: HP_0000007

口腔顔指症候群 X
type: Disease
type: C7057
has inheritance: HP_0000006

X連鎖性口腔-顔-指症候群 (Edwards 1988)
type: Disease
type: C7057
has inheritance: HP_0001419

口腔顔指症候群 VI (OFD6)
type: Disease
type: C7057
has inheritance: HP_0000007

口腔顔指趾症候群 IV 型
type: Disease
type: C7057
has inheritance: HP_0000007

軟骨異形成-仮性半陰陽症候群
type: Disease
type: C7057
has inheritance: HP_0000007

口腔-顔-指趾症候群 III
type: Disease
type: C7057
has inheritance: HP_0000007

軟骨異形成, 致死性, 長管骨彎曲と混合性骨濃度を伴う
type: Disease
type: C7057
has inheritance: HP_0000007

Mohr 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

口顔指症候群1 (OFD1)
type: Disease
type: C7057
has inheritance: HP_0001423

脊髄性筋萎縮症, 主に下肢の, 2A, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

Chanarin- Dorfman 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Wolfram 様症候群, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

膝蓋骨軟骨軟化症
type: Disease
type: C7057
has inheritance: HP_0000006

ミオパチー, 筋原線維性, 1
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

中性脂質蓄積病-ミオパチー
type: Disease
type: C7057
has inheritance: HP_0000007

黄斑コロボーマ
type: Disease
type: C7057
has inheritance: HP_0000006

環状染色体14
type: Disease
type: C7057
has inheritance: HP_0003745

半身性骨端異形成-軟骨腫および骨軟骨腫
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞-骨格異形成-外直筋麻痺
type: Disease
type: C7057
has inheritance: HP_0001417

脈絡膜欠損-難聴-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419
has inheritance: HP_0001466

細い骨異形成
type: Disease
type: C7057
has inheritance: HP_0000006

骨異所形成症, 進行性
type: Disease
type: C7057
has inheritance: HP_0000006

ネフローゼ症候群14型
type: Disease
type: C7057
has inheritance: HP_0000007

骨異形成, 家族性, Anderson 型
type: Disease
type: C7057

ラソステロール症
type: Disease
type: C7057
has inheritance: HP_0000007

不整脈-血清クレアチンキナーゼ増加
type: Disease
type: C7057
has inheritance: HP_0000007

ハンチントン病様2
type: Disease
type: C7057
has inheritance: HP_0000006

CINCA 症候群 (CINCA)
type: Disease
type: C7057
has inheritance: HP_0000006

線状骨症-頭蓋骨硬化症
type: Disease
type: C7057
has inheritance: HP_0001423

骨中部濃縮症
type: Disease
type: C7057
has inheritance: HP_0000006

骨融解症候群, 常劣型
type: Disease
type: C7057
has inheritance: HP_0000007

多中心性手根骨足根骨融解症候群
type: Disease
type: C7057
has inheritance: HP_0000006

先天性骨形成不全-小頭-白内障
type: Disease
type: C7057
has inheritance: HP_0000007

Cockayne 症候群 A 型
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

Cockayne 症候群, B 型
type: Disease
type: C7057
has inheritance: HP_0000007

耳爪腓骨症候群
type: Disease
type: C7057
has inheritance: HP_0000007

耳歯異形成
type: Disease
type: C7057
has inheritance: HP_0000006

全身性骨皮質骨化過剰症, Worth 良性型-口蓋隆起
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー-ジストログリカン症 (肢帯), C型, 7
type: Disease
type: C7057
has inheritance: HP_0000007

てんかん-両側性後頭部石灰化
type: Disease
type: C7057

頭蓋縫合早期癒合症-基底核石灰化-顔貌異常
type: Disease
type: C7057
has inheritance: HP_0000007

外側髄膜瘤症候群
type: Disease
type: C7057
has inheritance: HP_0000006

脳梁欠損-精神遅滞-眼コロボーマ-小顎
type: Disease
type: C7057
has inheritance: HP_0001419

CODAS 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

大動脈縮窄
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001426

骨粗鬆症-偽グリオーマ症候群
type: Disease
type: C7057
has inheritance: HP_0000007

骨粗鬆症-眼皮膚低色素症候群
type: Disease
type: C7057
has inheritance: HP_0000007

COACH 症候群
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

大理石骨病, 常染色体劣性 3 (OPTB3)
type: Disease
type: C7057
has inheritance: HP_0000007

巨大軸索姓ニューロパチー2, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

鎖骨四肢近位部短縮症候群
type: Disease
type: C7057
has inheritance: HP_0000006

尺骨/腓骨線欠損と短指症
type: Disease
type: C7057
has inheritance: HP_0000006

鎖骨頭蓋骨異形成
type: Disease
type: C7057
has inheritance: HP_0000006

大理石骨病, 常染色体優性1
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

Ehlers-Danlos 症候群, 古典型, 2
type: Disease
type: C7057
has inheritance: HP_0000006

コロボーマ, 眼 +/- 難聴-口唇口蓋裂 +/- 精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000006

黄斑コロボーマ-B型短指症
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞, 常染色体優性26
type: Disease
type: C7057
has inheritance: HP_0000006

脳回肥厚-精神遅滞-けいれん-くも膜嚢胞
type: Disease
type: C7057
has inheritance: HP_0000007

運動失調エピソード 8 型
type: Disease
type: C7057
has inheritance: HP_0000006

Ehlers-Danlos 症候群, 古典型
type: Disease
type: C7057
has inheritance: HP_0000006

腓骨無形成-脛骨 湾曲肢異形成(CMD1; CMPD1)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

色素性乾皮症, バリアント型)
type: Disease
type: C7057
has inheritance: HP_0000007

関節拘縮-外胚葉形成不全-口唇口蓋裂-発達遅滞
type: Disease
type: C7057
has inheritance: HP_0001417

心房中隔欠損症-房室伝導障害
type: Disease
type: C7057
has inheritance: HP_0000006

モヤモヤ病-アカラジア
type: Disease
type: C7057
has inheritance: HP_0000007

口腔顔面裂 14
type: Disease
type: C7057
has inheritance: HP_0000007

乳頭腎症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Rosselli-Gulienetti 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Carbonic anhydrrase VA 欠乏症による高アンモニア血症
type: Disease
type: C7057
has inheritance: HP_0000007

Vici 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

角膜ジストロフィー-感音性難聴 1 (CDPD1)
type: Disease
type: C7057
has inheritance: HP_0000007

Omenn 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

外耳道閉鎖-多発性先天奇形-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

無爪症-爪ジストロフィー-末節骨低形成／欠損
type: Disease
type: C7057
has inheritance: HP_0000006

致死性先天性関節拘縮症候群1型 (LCCS) (LCCS1)
type: Disease
type: C7057
has inheritance: HP_0000007

関節拘縮-過角化症
type: Disease
type: C7057

リンパ管拡張, 腸
type: Disease
type: C7057
has inheritance: HP_0000006

欠失
type: Disease
type: C7057
has inheritance: HP_0000006

チロジン血症 II 型
type: Disease
type: C7057
has inheritance: HP_0000007

脳梁欠損, 部分的, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

脳梁欠損-感覚運動ニューロパチー
type: Disease
type: C7057
has inheritance: HP_0000007

野中ミオパチー
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Welander 遠位ミオパチー (WDM)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

筋強直性ジストロフィー 2 (DM2)
type: Disease
type: C7057
has inheritance: HP_0000006

脛骨筋ジストロフィー, 遅発性 (TMD)
type: Disease
type: C7057
has inheritance: HP_0000006

14q11-q22 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0003745

Tietz 白皮症- 難聴症候群
type: Disease
type: C7057
has inheritance: HP_0000006

リソソーム酸性リパーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

脳奇形-尿路奇形
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

封入体筋炎
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

ミオパチー, 先天性
type: Disease
type: C7057
has inheritance: HP_0000007

粘液腫, 心内
type: Disease
type: C7057
has inheritance: HP_0000006

9p モノソミー症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

脊椎骨幹端異形成, Megarbane-Dagher-Melki 型
type: Disease
type: C7057
has inheritance: HP_0000007

MEND 症候群
type: Disease
type: C7057
has inheritance: HP_0001419

毛細血管奇形, 先天性
type: Disease
type: C7057
has inheritance: HP_0000006

メラニン細胞性母斑症候群, 先天性)
type: Disease
type: C7057
has inheritance: HP_0001428

Nance-Horan 症候群
type: Disease
type: C7057
has inheritance: HP_0001423

変形性異形成 (DD; DTD)
type: Disease
type: C7057
has inheritance: HP_0000007

Kowarski 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Laron 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Netherton 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

15q14 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006

神経線維腫症 I 型
type: Disease
type: C7057
has inheritance: HP_0000006

神経線維腫症 II 型
type: Disease
type: C7057
has inheritance: HP_0000006

神経線維腫症-Noonan 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

大脳眼鼻症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Leptin 欠乏症または機能障害
type: Disease
type: C7057
has inheritance: HP_0000007

Goldberg-Shprintzen 症候群 (GOSHS)
type: Disease
type: C7057
has inheritance: HP_0000007

Naxos 病
type: Disease
type: C7057
has inheritance: HP_0000007

ニューロパチー, 遺伝性-圧麻痺 (HNPP)
type: Disease
type: C7057
has inheritance: HP_0000006

無痛覚症, 先天性-無汗症 (CIPA)
type: Disease
type: C7057
has inheritance: HP_0000007

巨大軸索ニューロパチー1
type: Disease
type: C7057
has inheritance: HP_0000007

腎症-運動失調-色素性網膜炎
type: Disease
type: C7057
has inheritance: HP_0001427

Nijmegen 染色体断裂症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Norrie 病 (NDP; ND)
type: Disease
type: C7057
has inheritance: HP_0001419

15q11.2 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006

鎖骨偽関節, 先天性
type: Disease
type: C7057
has inheritance: HP_0000006

3-メチルグルタコン酸尿症V型
type: Disease
type: C7057
has inheritance: HP_0000007

大脳異発生-ニューロパチー-魚鱗癬-掌蹠角皮症候群
type: Disease
type: C7057
has inheritance: HP_0000007

透明脊椎異骨症
type: Disease
type: C7057
has inheritance: HP_0000007

多発性内分泌腫症 I 型
type: Disease
type: C7057
has inheritance: HP_0000006

掌蹠角皮症, 切断性-開口周辺部角化性局面
type: Disease
type: C7057
has inheritance: HP_0000006

Zechi-Ceide 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳失調症31
type: Disease
type: C7057
has inheritance: HP_0000006

中枢性低換気症候群, 先天性
type: Disease
type: C7057
has inheritance: HP_0000006

黄色爪症候群
type: Disease
type: C7057
has inheritance: HP_0000006

高アンモニア血症, オルニチン-トランスカルバミラーゼ欠損症による
type: Disease
type: C7057
has inheritance: HP_0001419

Hadziselimovic 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

溶血性尿毒症候群, 非典型的への感受性6
type: Disease
type: C7057
has inheritance: HP_0000006

免疫不全56
type: Disease
type: C7057
has inheritance: HP_0000007

硫黄欠乏性毛髪発育異常症1, 光線過敏性
type: Disease
type: C7057
has inheritance: HP_0000007

Pallister-Hall 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

輪状膵
type: Disease
type: C7057
has inheritance: HP_0000006

膵炎, 遺伝性
type: Disease
type: C7057
has inheritance: HP_0000006

Wahab 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Papillon-Lefevre 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Brody ミオパチー
type: Disease
type: C7057
has inheritance: HP_0000007

精子形成不全1
type: Disease
type: C7057
has inheritance: HP_0000007

無セルロプラスミン血症
type: Disease
type: C7057
has inheritance: HP_0000007

正カリウム血症性周期性麻痺
type: Disease
type: C7057
has inheritance: HP_0000006

高カリウム血症性周期性麻痺
type: Disease
type: C7057
has inheritance: HP_0000006

Potocki-Shaffer 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001466

パラミオトニア, 先天性, von Eulenburg
type: Disease
type: C7057
has inheritance: HP_0000006

捻転ジストニア3, X連鎖型 (DYT3)
type: Disease
type: C7057
has inheritance: HP_0001419

黒色表皮腫-筋痙攣-先端拡大
type: Disease
type: C7057
has inheritance: HP_0000007

Pearson 骨髄-膵臓症候群
type: Disease
type: C7057
has inheritance: HP_0001427

16p11.2 欠失症候群, 593 kb
type: Disease
type: C7057
has inheritance: HP_0001466

ばち指趾, 単独性先天性
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, 劣性中間型A
type: Disease
type: C7057
has inheritance: HP_0000007

下顎の震え
type: Disease
type: C7057
has inheritance: HP_0000006

VATER-様奇形-肺高血圧-喉頭帯-成長障害
type: Disease
type: C7057
has inheritance: HP_0000007

角膜ジストロフィー, 内皮性, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001423

血小板減少-βサラセミア, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001419

弛緩性皮膚, 常染色体優性 IIIB 型
type: Disease
type: C7057
has inheritance: HP_0000007

Perry 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー-ジストログリカン症 (肢帯), C型, 9
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳性運動失調38
type: Disease
type: C7057
has inheritance: HP_0000006

骨ページェット病5, 若年性
type: Disease
type: C7057
has inheritance: HP_0000007

ページェット病, 乳房外
type: Disease
type: C7057

モリブデン補因子欠損症, 相補群A
type: Disease
type: C7057
has inheritance: HP_0000007

顔面神経麻痺, 家族性反復性末梢性
type: Disease
type: C7057
has inheritance: HP_0000006

喉頭外転筋麻痺
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001419

汎脳炎, 亜急性硬化性
type: Disease
type: C7057
has inheritance: HP_0000007

Pallister W 症候群
type: Disease
type: C7057
has inheritance: HP_0001417

貧血, ジデロブラスト性- 脊髄小脳性運動失調 (ASAT)
type: Disease
type: C7057
has inheritance: HP_0001419

角膜内皮ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000007

Parana 堅い皮膚症候群
type: Disease
type: C7057
has inheritance: HP_0000007

モリブデン補因子欠損症, 相補群B
type: Disease
type: C7057
has inheritance: HP_0000007

痙性不全麻痺-緑内障-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺-てんかん-精神遅滞 (SPERM)
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対不全麻痺-難聴
type: Disease
type: C7057
has inheritance: HP_0001417

筋ジストロフィー, 先天性, Davignon-Chauveau 型
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺 11, 常染色体劣性 (SPG11)
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺--ニューロパチー-多形皮膚萎縮症
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺-感音性難聴-精神遅滞-進行性腎症
type: Disease
type: C7057
has inheritance: HP_0000006

Partington-Anderson 症候群
type: Disease
type: C7057

Thauvin-Robinet-Faivre 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺-思春期早発症
type: Disease
type: C7057
has inheritance: HP_0000006

PARC 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞-痙性対麻痺-掌蹠過角化症
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

脊髄小脳失調症, 常染色体劣性14
type: Disease
type: C7057
has inheritance: HP_0000007

皺の多い皮膚症候群
type: Disease
type: C7057
has inheritance: HP_0000007

硬皮症候群
type: Disease
type: C7057
has inheritance: HP_0000006

短い瞼板-下部睫毛欠損
type: Disease
type: C7057
has inheritance: HP_0000006

四肢近位短縮性異形成, Patterson- Lowry 型
type: Disease
type: C7057
has inheritance: HP_0000007

坐骨股足膝蓋骨症候群
type: Disease
type: C7057
has inheritance: HP_0000006

股耳症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001423

骨盤肩異形成
type: Disease
type: C7057
has inheritance: HP_0000006

Robinow 症候群, 常染色体劣性型
type: Disease
type: C7057
has inheritance: HP_0000007

ペラグラ様症候群
type: Disease
type: C7057
has inheritance: HP_0000007

PEHO 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

漏斗胸-巨頭-低身長-爪異形成
type: Disease
type: C7057
has inheritance: HP_0000006

頭蓋骨幹異形成
type: Disease
type: C7057
has inheritance: HP_0000007

Crane-Heise 症候群
type: Disease
type: C7057

ペントース尿
type: Disease
type: C7057
has inheritance: HP_0000007

良性慢性天疱瘡 (BCPM)
type: Disease
type: C7057
has inheritance: HP_0000006

リポジストロフィー, 家族性, 部分, 4型
type: Disease
type: C7057
has inheritance: HP_0000006

骨盤低形成-下肢関節拘縮
type: Disease
type: C7057

両眼隔離, Teebi 型
type: Disease
type: C7057
has inheritance: HP_0000006

Perlman 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

屈指-関節症-内反股-心外膜炎症候群 (CACP)
type: Disease
type: C7057
has inheritance: HP_0000007

Cantu 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

頭蓋顔面異癒合症
type: Disease
type: C7057
has inheritance: HP_0003745

脊髄小脳失調症40
type: Disease
type: C7057
has inheritance: HP_0000006

ミューラー管遺残症候群 I および II 型
type: Disease
type: C7057
has inheritance: HP_0000007

頭蓋小肢症候群
type: Disease
type: C7057

腓骨無形成または低形成-大腿骨湾曲-多指症/合指症/乏指症
type: Disease
type: C7057
has inheritance: HP_0000007

頭蓋前頭鼻症候群
type: Disease
type: C7057
has inheritance: HP_0001423

頭蓋顔面-難聴-手症候群 (CDHS)
type: Disease
type: C7057
has inheritance: HP_0000006

頭蓋終脳異形成
type: Disease
type: C7057
has inheritance: HP_0000007

低身長症候群, Brussells 型
type: Disease
type: C7057
has inheritance: HP_0000007

頭蓋骨癒合症-腓骨無形成
type: Disease
type: C7057
has inheritance: HP_0000007

Stratton-Parker 症候群
type: Disease
type: C7057

小脳三叉神経皮膚異形成
type: Disease
type: C7057
has inheritance: HP_0003745

水頭症, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

Peutz-Jeghers 症候群 (PJS)
type: Disease
type: C7057
has inheritance: HP_0000006

不均衡型低身長-眼瞼下垂-心臓弁膜症
type: Disease
type: C7057
has inheritance: HP_0000006

皮膚日光過敏性-腸炎, 致死性
type: Disease
type: C7057
has inheritance: HP_0000007

ミトコンドリア DNA 欠乏症候群 1 1
type: Disease
type: C7057
has inheritance: HP_0000007

埋没小耳介-短指症候群
type: Disease
type: C7057
has inheritance: HP_0000006

あざらし肢-欠指-難聴-洞性不整脈
type: Disease
type: C7057
has inheritance: HP_0000006

PHAVER 症候群
type: Disease
type: C7057

Crisponi/寒冷誘発生発汗症候群1
type: Disease
type: C7057
has inheritance: HP_0000007

頭蓋骨縫合早期癒合, 矢状-先天性心疾患-精神遅滞-下顎強直
type: Disease
type: C7057
has inheritance: HP_0000007

斜眼裂1
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

頭蓋骨縫合早期癒合 2
type: Disease
type: C7057
has inheritance: HP_0000006

Jackson-Weiss 症候群 (JWS)
type: Disease
type: C7057
has inheritance: HP_0000006

Pfeiffer-Palm-Teller 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

尺骨および腓骨欠損-重度四肢欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

毛髪歯異形成-屈折異常
type: Disease
type: C7057
has inheritance: HP_0000007

捩転毛-発達遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

脳回状皮膚-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

Pierre-Robin シークェンス-顔および指奇形
type: Disease
type: C7057
has inheritance: HP_0001417

先天性毛細血管拡張性大理石様皮膚
type: Disease
type: C7057
has inheritance: HP_0000007

Beare-Stevenson 脳回状皮膚症候群
type: Disease
type: C7057
has inheritance: HP_0000006

TARP 症候群 (TARPS)
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

限局性白皮形質-神経症状
type: Disease
type: C7057
has inheritance: HP_0000006

限局性白皮形質(PBT)
type: Disease
type: C7057
has inheritance: HP_0000006

Curry-Jones 症候群
type: Disease
type: C7057
has inheritance: HP_0001442

Currarino 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

銅欠乏症, 家族性良性
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001417

筋ジストロフィー, 肢帯型, 常染色体劣性21
type: Disease
type: C7057
has inheritance: HP_0000007

Knobloch 症候群1
type: Disease
type: C7057
has inheritance: HP_0000007

de Sanctis-Cacchione 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Pettigrew 症候群
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

歯奇形-低身長
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞, X連鎖性-頭蓋顔面形態異常
type: Disease
type: C7057

大口症, 単独
type: Disease
type: C7057

毛孔性紅色粃糠疹
type: Disease
type: C7057
has inheritance: HP_0000006

Dandy-Walker 奇形-軸後性多指症
type: Disease
type: C7057
has inheritance: HP_0000007

Pitt-Hopkins 症候群 (PTHS)
type: Disease
type: C7057
has inheritance: HP_0000006

進行性外眼筋麻痺, いろんなミトコンドリアDNA欠失を伴う, 常染色体優性, 6
type: Disease
type: C7057
has inheritance: HP_0000006

リンパ浮腫-副甲状腺機能低下症候群
type: Disease
type: C7057
has inheritance: HP_0000007

骨斑紋症-涙嚢炎
type: Disease
type: C7057
has inheritance: HP_0000006

16p11.2 欠失症候群 220-kb
type: Disease
type: C7057

Digeorge 症候群/verlocardiofacial 症候群スペクトラム 2 (DGS2)
type: Disease
type: C7057

高フェニールアラニン血症, BH4 欠乏性, D
type: Disease
type: C7057
has inheritance: HP_0000007

網膜変性-小眼球-嚢胞性黄斑変性-偶角閉鎖性緑内障
type: Disease
type: C7057
has inheritance: HP_0000007

先天性減毛-若年性黄斑ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000007

Robin シークェンス-特異顔貌-短指症
type: Disease
type: C7057

モリブデン補因子欠損症, 相補群C
type: Disease
type: C7057
has inheritance: HP_0000007

16p12.2-p11.2 欠失症候群, 7.1- to 8.7- MB
type: Disease
type: C7057
has inheritance: HP_0003745

鎖肛-尿道下裂-襟巻陰嚢
type: Disease
type: C7057

小頭症1, 原発性常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

染色体13q14 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

Branched-chain ketoacid dehydrogenase kinase 欠乏症 (BCKDKD)
type: Disease
type: C7057

18p欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

15q26-qter 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0003745

先天性全禿頭 (ALUNC)
type: Disease
type: C7057
has inheritance: HP_0000007

Pelizaeus-Merzbacher 病
type: Disease
type: C7057
has inheritance: HP_0001419

天疱瘡, 尋常性, 家族性
type: Disease
type: C7057
has inheritance: HP_0000006

Pendred 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

前眼区異発生5
type: Disease
type: C7057
has inheritance: HP_0000006

Petersプラス 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

17q12 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Pfeiffer 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

溶血性貧血, 非球状赤血球性, glucose phosphate isomerase 欠乏による
type: Disease
type: C7057
has inheritance: HP_0000007

Phosphoglycerate kinase 1 欠乏症
type: Disease
type: C7057
has inheritance: HP_0001419

赤血球増多症, 家族性, 8
type: Disease
type: C7057
has inheritance: HP_0000007

糖原病 IXd 型
type: Disease
type: C7057
has inheritance: HP_0001419

フェニールケトン尿症
type: Disease
type: C7057
has inheritance: HP_0000007

Pierre Robin 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

灰色血小板症候群
type: Disease
type: C7057
has inheritance: HP_0000007

プラスミノーゲン欠乏症 I 型
type: Disease
type: C7057
has inheritance: HP_0000007

ミトコンドリアDNA枯渇症候群4A (Alpers 型)
type: Disease
type: C7057
has inheritance: HP_0000007

真性多血症 (PRV)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001428
has inheritance: HP_0003745

血小板減少症6
type: Disease
type: C7057
has inheritance: HP_0000006

貯蔵プール血小板病
type: Disease
type: C7057
has inheritance: HP_0000006

汗孔角化症2, 掌蹠および播種型
type: Disease
type: C7057
has inheritance: HP_0000006

Prader-Willi 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

PHACE 連合
type: Disease
type: C7057
has inheritance: HP_0001423
has inheritance: HP_0003745

Hutchinson-Gilford プロゲリア症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

プロリダーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

Proteus 症候群
type: Disease
type: C7057
has inheritance: HP_0001428
has inheritance: HP_0003745

ミトコンドリア三頭酵素欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

Prekallikrein 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

偽軟骨無形成
type: Disease
type: C7057
has inheritance: HP_0000006

仮性半陰陽, 男性-女性型乳房
type: Disease
type: C7057
has inheritance: HP_0000007

偽膣性会陰陰嚢尿道下裂
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0032382

アンドロゲン不応症候群
type: Disease
type: C7057
has inheritance: HP_0001419

弾性線維性仮性黄色腫
type: Disease
type: C7057
has inheritance: HP_0000007

αサラセミア骨髄異形成症候群 (ATMDS)
type: Disease
type: C7057

Purine nucleoside phosphorylase 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

濃縮異骨症 (PKND; PYCD)
type: Disease
type: C7057
has inheritance: HP_0000007

弛緩性皮膚, 常染色体劣性 IIIA 型
type: Disease
type: C7057
has inheritance: HP_0000007

リンパ浮腫-二列睫毛症候群
type: Disease
type: C7057
has inheritance: HP_0000006

ピルビン酸キナーゼ欠損症, 赤血球 (PK)
type: Disease
type: C7057
has inheritance: HP_0000007

松果体過形成-インスリン抵抗性糖尿病-身体異常
type: Disease
type: C7057
has inheritance: HP_0000007

X連鎖性精神遅滞-マルファン様体型
type: Disease
type: C7057
has inheritance: HP_0001419

Rett 症候群
type: Disease
type: C7057
has inheritance: HP_0001423

Reynolds 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

17q12 重複症候群
type: Disease
type: C7057
has inheritance: HP_0000006

17q23.1-q23.2 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0003745

エストロゲン抵抗性
type: Disease
type: C7057
has inheritance: HP_0000007

グルココルチコイド抵抗性, 全身性
type: Disease
type: C7057
has inheritance: HP_0000006

Felty 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

網膜芽細胞腫 (RB1)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001428
has inheritance: HP_0003745

色素性網膜炎
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007
has inheritance: HP_0001419

網膜分離症 1, X連鎖性, 若年性
type: Disease
type: C7057
has inheritance: HP_0001419

Saethre-Chotzen 症候群 (SCS)
type: Disease
type: C7057
has inheritance: HP_0000006

Sandhoff 病
type: Disease
type: C7057
has inheritance: HP_0000007

Schinzel-Giedion 顔面中部後退症候群
type: Disease
type: C7057
has inheritance: HP_0000006

裂脳症
type: Disease
type: C7057

海青色組織球病
type: Disease
type: C7057
has inheritance: HP_0000007

コエンザイム Q10 欠損症, 原発性, 6
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺53, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

滑脳症 1 (LIS1)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

デルモイド嚢胞, 家族性前頭鼻
type: Disease
type: C7057
has inheritance: HP_0000006

GLUT1 欠乏症候群 1 (GLUT1DS1)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

グルタミン欠乏症, 先天性
type: Disease
type: C7057
has inheritance: HP_0000007

Rh ヌル, 調節遺伝子型
type: Disease
type: C7057
has inheritance: HP_0000006

裂手/裂足奇形1-感音性難聴, 常染色体劣性 (SHFM1D)
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全23
type: Disease
type: C7057
has inheritance: HP_0000007

8q22.1 重複症候群
type: Disease
type: C7057
has inheritance: HP_0000006

多形皮膚萎縮症, 遺伝性末端角化性
type: Disease
type: C7057
has inheritance: HP_0000007

気胸, 自然
type: Disease
type: C7057
has inheritance: HP_0000006

Wiedemann-Steiner 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Poland 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

口腔顔面指趾症候群V
type: Disease
type: C7057
has inheritance: HP_0000007

多指症, 軸後性-進行性近視
type: Disease
type: C7057
has inheritance: HP_0000006

多指症, 軸後性-歯および脊椎奇形 (Rogers 1977)
type: Disease
type: C7057
has inheritance: HP_0000007

Ohdo 症候群, X連鎖性
type: Disease
type: C7057
has inheritance: HP_0001419

Charcot-Marie-Tooth 病, 軸索性, 2Y型
type: Disease
type: C7057
has inheritance: HP_0000006

Oliver 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

指伸展筋無形成, 片側性-全身性ポリニューロパチー
type: Disease
type: C7057
has inheritance: HP_0000007

多発性肝嚢胞1 +/- 腎嚢胞
type: Disease
type: C7057
has inheritance: HP_0000006

瞼裂狭小-顔面奇形-性器奇形-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

ミオパチー, 中心核, 4
type: Disease
type: C7057
has inheritance: HP_0000006

Guillain-Barre 症候群, 家族性
type: Disease
type: C7057
has inheritance: HP_0000006

18q 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

ポリープ症-皮膚色素沈着-禿頭-指爪異常
type: Disease
type: C7057
has inheritance: HP_0003745

1p36欠失症候群
type: Disease
type: C7057
has inheritance: HP_0003745

多合指症, 交叉性
type: Disease
type: C7057

多合指症-心奇形
type: Disease
type: C7057
has inheritance: HP_0000007

視神経低形成, 家族性両側性
type: Disease
type: C7057
has inheritance: HP_0000006

混合性酸化的リン酸化欠乏症5
type: Disease
type: C7057
has inheritance: HP_0000007

孔脳症-小脳低形成-内臓奇形
type: Disease
type: C7057
has inheritance: HP_0000007

膵β細胞無発生-新生児糖尿病
type: Disease
type: C7057
has inheritance: HP_0000007

三指節母指-短欠指
type: Disease
type: C7057
has inheritance: HP_0000006

長母指型短指症候群
type: Disease
type: C7057
has inheritance: HP_0000006

後鼻孔閉鎖 (PCA)
type: Disease
type: C7057

内転母指症候群
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001419

3q13.31 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006

母指無形成-小人症-免疫不全
type: Disease
type: C7057
has inheritance: HP_0000007

3pter-p25 欠失症候群
type: Disease
type: C7057
has inheritance: HP_0000006

プロゲリア様低身長-色素性母斑
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007
has inheritance: HP_0001417

Prieto X連鎖性精神遅滞症候群
type: Disease
type: C7057
has inheritance: HP_0001419

軸前性欠指-軸後性多指-尿道下裂
type: Disease
type: C7057
has inheritance: HP_0000006

顆粒球減少症, 重症先天性, 6, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

プロパージン欠損症
type: Disease
type: C7057
has inheritance: HP_0001419

下垂体腺腫, プロラクチン分泌性
type: Disease
type: C7057

下顎突出
type: Disease
type: C7057
has inheritance: HP_0000006

近位四肢短縮性点状軟骨異形成 2 型 (RCDP2)
type: Disease
type: C7057
has inheritance: HP_0000007

Transcobalamin 欠損症
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

脊髄小脳失調30
type: Disease
type: C7057
has inheritance: HP_0000006

角皮症, 掌蹠-爪ジストロフィー-遺伝性運動感覚ニューロパチー
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

ミオパチー, X連鎖性-姿勢筋萎縮
type: Disease
type: C7057
has inheritance: HP_0001419

偽性乳頭浮腫-両眼開離-瞼裂狭小-手奇形
type: Disease
type: C7057
has inheritance: HP_0000007

Patterson 偽妖精症
type: Disease
type: C7057
has inheritance: HP_0003745

仮性半陰陽, 女性-骨格異常
type: Disease
type: C7057
has inheritance: HP_0000007

歯未萌出-上顎低形成-外反膝
type: Disease
type: C7057
has inheritance: HP_0000007

ペルオキシソーム アシル- CoA オキシダーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

プルーンベリー症候群
type: Disease
type: C7057
has inheritance: HP_0000007

眼大脳皮膚症候群
type: Disease
type: C7057
has inheritance: HP_0003745

皮膚歯異形成
type: Disease
type: C7057
has inheritance: HP_0000006

多発性翼状片症候群, Escobar バリアント
type: Disease
type: C7057
has inheritance: HP_0000007

皮膚骨融解症, キルギス人型
type: Disease
type: C7057
has inheritance: HP_0000007

翼状頚-精神遅滞-顔貌異常-指趾異常
type: Disease
type: C7057
has inheritance: HP_0000006

翼状片, 肘前部
type: Disease
type: C7057
has inheritance: HP_0000006

ミューラー管由来器官の持続-リンパ管拡張-軸後性多指症
type: Disease
type: C7057
has inheritance: HP_0000007

眉毛および睫毛欠損-精神遅滞
type: Disease
type: C7057
has inheritance: HP_0000007

偽腸閉塞-PDA-魔歯
type: Disease
type: C7057

男性仮性半陰陽/精神遅滞症候群, Verloes 型
type: Disease
type: C7057
has inheritance: HP_0000007

気管気管支狭窄, 先天性
type: Disease
type: C7057

ミオパチー, 遠位-前脛骨筋発症
type: Disease
type: C7057
has inheritance: HP_0000007

皮膚白質ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000007

Basan 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

翼状片, 結膜および角膜
type: Disease
type: C7057
has inheritance: HP_0000006

割髄症 (二分脊髄)
type: Disease
type: C7057
has inheritance: HP_0000007

下痢, 慢性-絨毛萎縮
type: Disease
type: C7057

混合性酸化的リン酸化欠乏症16
type: Disease
type: C7057
has inheritance: HP_0000007

眼瞼下垂-斜視-異所性瞳孔
type: Disease
type: C7057
has inheritance: HP_0000006

骨端異形成, 多発性-早期発症糖尿病
type: Disease
type: C7057
has inheritance: HP_0000007

3MC 症候群 2 (3MC2)
type: Disease
type: C7057
has inheritance: HP_0000007

声帯麻痺-眼瞼下垂
type: Disease
type: C7057
has inheritance: HP_0000006

翼状片-精神遅滞-特異的頭蓋顔面特徴
type: Disease
type: C7057
has inheritance: HP_0000006

拘束性皮膚症, 致死性)
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

角膜デルモイド
type: Disease
type: C7057
has inheritance: HP_0001417

四肢近位短縮性点状軟骨異形成 1 型 (RCDP1)
type: Disease
type: C7057
has inheritance: HP_0000007

エピソード性運動失調5型
type: Disease
type: C7057
has inheritance: HP_0000006

動脈解離-黒子
type: Disease
type: C7057
has inheritance: HP_0000007

Bainbridge-Ropers 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

正中線奇形, 多発性-四肢異常-下垂体機能低下症
type: Disease
type: C7057
has inheritance: HP_0000007

片顔過形成
type: Disease
type: C7057
has inheritance: HP_0000006

ミオクロニーてんかん, 家族性乳児
type: Disease
type: C7057
has inheritance: HP_0000007

片側顔筋過形成
type: Disease
type: C7057

Methylmalonyl-CoA epimerase 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

てんかん, 読書
type: Disease
type: C7057
has inheritance: HP_0000006

舌低形成-内臓逆位
type: Disease
type: C7057
has inheritance: HP_0003745

二列睫毛-先天性心および末梢血管奇形
type: Disease
type: C7057
has inheritance: HP_0000006

精神遅滞, 常染色体優性47
type: Disease
type: C7057
has inheritance: HP_0000006

ブドウ糖/ガラクトース吸収不全
type: Disease
type: C7057
has inheritance: HP_0000007

赤血球増多症, 家族性, 2
type: Disease
type: C7057
has inheritance: HP_0000007

てんかん, 進行性ミオクローヌス +/- 細胞内封入体
type: Disease
type: C7057
has inheritance: HP_0000007

3-ヒドロキシ-3メチルグタリル-CoA シンサーゼ 2, ミトコンドリア, 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

ミオパチー, ミトコンドリア-運動失調
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Schwartz-Jampel 症候群 I 型 (SJS1)
type: Disease
type: C7057
has inheritance: HP_0000007

Aromatic L-amino acid decarboxylase 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

グルタル酸尿症 III
type: Disease
type: C7057
has inheritance: HP_0000007

Scott 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

大脳クレアチン欠乏症候群3
type: Disease
type: C7057
has inheritance: HP_0000007

先天性グリコシル化障害 IIj 型
type: Disease
type: C7057
has inheritance: HP_0000007

先天性グリコシル化障害 IIg 型 (CDG2G)
type: Disease
type: C7057
has inheritance: HP_0000007

Sjogren-Larsson 症候群 (SLS)
type: Disease
type: C7057
has inheritance: HP_0000007

先天性グリコシル化障害 Ip 型
type: Disease
type: C7057
has inheritance: HP_0000007

Smith-Lemli-Opitz 症候群(SLOS)
type: Disease
type: C7057
has inheritance: HP_0000007

関節拘縮症, 遠位, 10 型
type: Disease
type: C7057
has inheritance: HP_0000006

Smith-Magenis 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

重複症候群
type: Disease
type: C7057
has inheritance: HP_0000006

白質脳症, 進行性, 早期小児期発症
type: Disease
type: C7057
has inheritance: HP_0000007

Sneddon 症候群
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0003745

骨髄線維症
type: Disease
type: C7057
has inheritance: HP_0001428

ミオパチー, 錐体外路サインを伴う
type: Disease
type: C7057
has inheritance: HP_0000007

Succynyl CoA:3-oxoacid CoA transferase 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

骨髄不全症候群2
type: Disease
type: C7057
has inheritance: HP_0000007

ネフローゼ症候群1型
type: Disease
type: C7057
has inheritance: HP_0000007

表皮反復性びらんジストロフィー
type: Disease
type: C7057
has inheritance: HP_0000006

筋肥大
type: Disease
type: C7057
has inheritance: HP_0000007

多発性脂腺嚢腫症
type: Disease
type: C7057
has inheritance: HP_0000006

心房性多不整脈-PR 間隔短縮
type: Disease
type: C7057
has inheritance: HP_0000006

Tay-Sachs 病 (TSD)
type: Disease
type: C7057
has inheritance: HP_0000007

αサラセミア
type: Disease
type: C7057

α-サラセミア/ 精神遅滞症候群, X連鎖 (ATRX)
type: Disease
type: C7057
has inheritance: HP_0001423

Glenzmann 血小板無力症
type: Disease
type: C7057
has inheritance: HP_0000007

皮膚剥脱症候群2
type: Disease
type: C7057
has inheritance: HP_0000007

血小板減少, Paris- Trousseau 型 (TCPT)
type: Disease
type: C7057
has inheritance: HP_0003745

血小板減少症1
type: Disease
type: C7057
has inheritance: HP_0001419

トランスコバラミン II 欠損症 (TC II; TC2; TCN2)
type: Disease
type: C7057
has inheritance: HP_0000007

皮膚剥脱症候群2
type: Disease
type: C7057
has inheritance: HP_0000007

Caspase 8 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

Triosephosphate isomerase欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

アカラジア-アジソン病-無涙症候群
type: Disease
type: C7057
has inheritance: HP_0000007

青色おしめ症候群
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001417

Partington X連鎖精神遅滞症候群
type: Disease
type: C7057
has inheritance: HP_0001419

仮性副甲状腺機能低下症, Ib 型 (PHP1B)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

ダウン症候群
type: Disease
type: C7057
has inheritance: HP_0003745

デスモイド病 ,遺伝性
type: Disease
type: C7057
has inheritance: HP_0000006

チロジン血症 I 型
type: Disease
type: C7057
has inheritance: HP_0000007

Killian / Teschler-Nicola 症候群
type: Disease
type: C7057
has inheritance: HP_0001442

VATER 連合
type: Disease
type: C7057
has inheritance: HP_0003745

免疫不全17
type: Disease
type: C7057
has inheritance: HP_0000007

CD8欠損症, 家族性
type: Disease
type: C7057
has inheritance: HP_0000007

Von Hippel-Lindau 症候群(VHL)
type: Disease
type: C7057
has inheritance: HP_0000006

Wilms 腫瘍-無虹彩症-泌尿生殖器奇形-精神遅滞症候群 (WAGR)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001428
has inheritance: HP_0001466

Waardenburg 症候群1 型 (WS1)
type: Disease
type: C7057
has inheritance: HP_0000006

Waardernburg 症候群 III 型 (WS3)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007
has inheritance: HP_0001452

Wagner 硝子体網膜症
type: Disease
type: C7057
has inheritance: HP_0000006

脊椎肋骨異骨症-鎖肛-尿路外性器奇形
type: Disease
type: C7057
has inheritance: HP_0000007

重症複合免疫不全-小頭-成長遅滞-イオン化放射線への感受性
type: Disease
type: C7057

偽性副甲状腺機能低下症 II 型 (PHP2)
type: Disease
type: C7057
has inheritance: HP_0003745

多発性翼状片症候群, 致死型
type: Disease
type: C7057
has inheritance: HP_0000007

ケベック血小板病
type: Disease
type: C7057
has inheritance: HP_0000006

ジストニア9
type: Disease
type: C7057
has inheritance: HP_0000006

染色体 5p13 重複症候群
type: Disease
type: C7057
has inheritance: HP_0003745

発達遅滞-低身長-形態異常-疎な毛髪
type: Disease
type: C7057
has inheritance: HP_0000007

出血性疾患, 血小板型, 13, への感受性
type: Disease
type: C7057
has inheritance: HP_0000006

痙性運動失調 2, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

精神遅滞, 常染色体劣性40
type: Disease
type: C7057
has inheritance: HP_0000007

Xq26.3 重複症候群
type: Disease
type: C7057
has inheritance: HP_0001423

成長ホルモン不応性-免疫不全
type: Disease
type: C7057

脊椎骨端異形成, Stanescu 型
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺 75, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

仙骨無発生-脊椎奇形
type: Disease
type: C7057
has inheritance: HP_0000007

Joubert 症候群 4 (JBTS4)
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

Webb-Dattani 症候群)
type: Disease
type: C7057
has inheritance: HP_0000007

筋萎縮性側索硬化症 4, 若年性 (ALS4)
type: Disease
type: C7057
has inheritance: HP_0000006

骨幹端軟骨異形成, Jansen 型
type: Disease
type: C7057
has inheritance: HP_0000006

運動失調-眼球運動失行4
type: Disease
type: C7057
has inheritance: HP_0000007

Sugarman 短指症
type: Disease
type: C7057
has inheritance: HP_0000007

腎性糖尿 (GLYS1)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Poretti-Boltshauser 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

Pyruvate dehydrogenase E1-beta 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

歯-毛-爪-指趾-手掌症候群
type: Disease
type: C7057
has inheritance: HP_0000006

弛緩性皮膚, 常染色体劣性, IIA 型
type: Disease
type: C7057
has inheritance: HP_0000007

四肢乳房症候群
type: Disease
type: C7057
has inheritance: HP_0000006

外胚葉形成不全-魔歯, Turnpenny 型
type: Disease
type: C7057
has inheritance: HP_0000006

Usher 症候群 I 型
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001425

外胚葉形成不全、無汗型-免疫不全-大理石骨病-リンパ浮腫
type: Disease
type: C7057

Naegeli-Franceschetti-Jadassohn 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

弛緩性皮膚, 常染色体劣性, IIB 型
type: Disease
type: C7057
has inheritance: HP_0000007

発作性高度疼痛症
type: Disease
type: C7057
has inheritance: HP_0000006

難聴, 感音性-男性不妊
type: Disease
type: C7057
has inheritance: HP_0000007

脊椎骨端異形成, 先天型
type: Disease
type: C7057
has inheritance: HP_0000006

Charcot-Marie-Tooth 病, 軸索性, 2R型
type: Disease
type: C7057
has inheritance: HP_0000007

Witteveen-Kolk 症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

Potocki-Lupski 症候群 (PTLS)
type: Disease
type: C7057
has inheritance: HP_0003745

精神遅滞-肥満-下顎突出-眼および皮膚奇形
type: Disease
type: C7057
has inheritance: HP_0000007

貧血, 鉄芽球性, 3, ピリドキシン抵抗性
type: Disease
type: C7057
has inheritance: HP_0000007

ポルフィリン症, 急性肝性
type: Disease
type: C7057
has inheritance: HP_0000007

22q11.2 重複症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

Pyruvate dehydrogenase E3-binding protein 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

(精神遅滞, X連鎖性, 脆弱部位 FRAXE に伴う
type: Disease
type: C7057
has inheritance: HP_0001417
has inheritance: HP_0001419

痙性対麻痺 6, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺 8, 常染色体優性 (SPG8)
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺 3, 常染色体優性(SPG3A)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

痙性対麻痺 4, 常染色体優性 (SPG4)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003743

痙性対麻痺 5A, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

乳児肝不全症候群性1
type: Disease
type: C7057
has inheritance: HP_0000007

尾部重複奇形
type: Disease
type: C7057

眼皮膚型白皮症 V 型
type: Disease
type: C7057
has inheritance: HP_0000007

16p11.2 重複症候群
type: Disease
type: C7057

胆汁うっ滞, 進行性家族性肝内4
type: Disease
type: C7057
has inheritance: HP_0000007

性腺異発生, XY 型-その他の奇形
type: Disease
type: C7057
has inheritance: HP_0000007

異軟骨骨症-腎炎
type: Disease
type: C7057
has inheritance: HP_0000006

遺伝性感覚および自律神経ニューロパチー III
type: Disease
type: C7057
has inheritance: HP_0000007

Lubs X連鎖性精神遅滞症候群 (MRXSL)
type: Disease
type: C7057
has inheritance: HP_0001419

仙骨奇形-前方髄膜瘤
type: Disease
type: C7057
has inheritance: HP_0000006

胆汁うっ滞, 進行性家族性肝内 5
type: Disease
type: C7057
has inheritance: HP_0000007

顔貌異常-多発奇形
type: Disease
type: C7057
has inheritance: HP_0000007

Temtamy 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

白皮症, 眼皮膚性, VI型
type: Disease
type: C7057
has inheritance: HP_0000007

前頭顔鼻異形成
type: Disease
type: C7057
has inheritance: HP_0000007

下顎低形成性顔頭蓋異骨症
type: Disease
type: C7057
has inheritance: HP_0000007

視神経萎縮7 (OPA7)+/- 聴覚ニューロパチー
type: Disease
type: C7057
has inheritance: HP_0000007

肢端顔異骨症候群, Rodriguez 型
type: Disease
type: C7057
has inheritance: HP_0000007

尖端顔面異骨症, Palagonia 型
type: Disease
type: C7057
has inheritance: HP_0000006

肢端顔異骨症, Catania 型 (AFD, Catania 型)
type: Disease
type: C7057
has inheritance: HP_0000006

肢端前頭顔鼻異骨症1
type: Disease
type: C7057
has inheritance: HP_0000007

異骨硬化症
type: Disease
type: C7057
has inheritance: HP_0000007

頭蓋内高血圧, 本態性
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺19, 常染色体優性 (SPG19)
type: Disease
type: C7057
has inheritance: HP_0000006

発語障害, 家族性発達性
type: Disease
type: C7057
has inheritance: HP_0000006

頭蓋顔面異骨症-骨幹過形成
type: Disease
type: C7057
has inheritance: HP_0000006

末梢性異骨症
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄性筋萎縮 I
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺 10, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺12, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺13, 常染色体優性 (SPG13)
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺14, 常染色体劣性 (SPG14)
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺-網膜変性
type: Disease
type: C7057
has inheritance: HP_0000007

痙直性対麻痺 15, X連鎖性, 複雑性
type: Disease
type: C7057
has inheritance: HP_0001419

痙性対麻痺17, 常染色体優性
type: Disease
type: C7057
has inheritance: HP_0000006

Wegener 肉芽腫症
type: Disease
type: C7057
has inheritance: HP_0010982

Werner 症候群 (WRN)
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全22
type: Disease
type: C7057
has inheritance: HP_0000007

Williams-Beuren 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

ウィルソン病 (WND; WD)
type: Disease
type: C7057
has inheritance: HP_0000007

Wiskott-Aldrich 症候群
type: Disease
type: C7057
has inheritance: HP_0001419

脆弱X精神遅滞症候群
type: Disease
type: C7057
has inheritance: HP_0001423

脳腱黄色腫症
type: Disease
type: C7057
has inheritance: HP_0000007

痙性対麻痺, X連鎖性, 無合併症型
type: Disease
type: C7057
has inheritance: HP_0001419

視神経萎縮, 先天性または早期乳児期
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病, X連鎖劣性, 5
type: Disease
type: C7057
has inheritance: HP_0000007
has inheritance: HP_0001419

痙性対麻痺7, 常染色体劣性 (SPG14)
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

免疫不全48
type: Disease
type: C7057
has inheritance: HP_0000007

Aarskog-Scott 症候群
type: Disease
type: C7057
has inheritance: HP_0001419

Aase-Smith 症候群 I 型
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺72,常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

ABCD 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

甲状腺刺激ホルモン放出ホルモン不応性
type: Disease
type: C7057
has inheritance: HP_0000007

甲状腺刺激ホルモン放出ホルモン欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

甲状腺刺激ホルモン欠損症, 単独
type: Disease
type: C7057
has inheritance: HP_0000007

網膜ジストロフィー, 網膜色素性, 後極
type: Disease
type: C7057
has inheritance: HP_0000007

無眼瞼-大口症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Abruzzo-Erickson 症候群
type: Disease
type: C7057
has inheritance: HP_0001417

無カタラーゼ血症
type: Disease
type: C7057
has inheritance: HP_0000007

高アンモニア血症, N-アセチルグルタミン酸合成酵素欠損症 (NAGS)
type: Disease
type: C7057
has inheritance: HP_0000007

アカラジア-小頭症候群
type: Disease
type: C7057
has inheritance: HP_0000007

無手足症
type: Disease
type: C7057
has inheritance: HP_0000007

短肢性骨格異形成-重症複合免疫不全
type: Disease
type: C7057
has inheritance: HP_0000007

コハク酸血症
type: Disease
type: C7057
has inheritance: HP_0000007

3-水酸化酪酸尿症
type: Disease
type: C7057
has inheritance: HP_0000007

白質ジストロフィー, 成人発症, 常染色体優性 (ADLD)
type: Disease
type: C7057
has inheritance: HP_0000006

痙性対麻痺 64, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

D-グリセリン酸尿症
type: Disease
type: C7057
has inheritance: HP_0000007

マロニールCoA デカルボキシラーゼ欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

メチルマロン酸尿症, transcobalamin receptor 障害による
type: Disease
type: C7057
has inheritance: HP_0000007

先端頭蓋顔異骨症
type: Disease
type: C7057
has inheritance: HP_0000007

Weyers 先端顔面異骨症
type: Disease
type: C7057
has inheritance: HP_0000006

Hajdu-Cheney 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

肢端胸筋脊椎骨異形成, F型
type: Disease
type: C7057
has inheritance: HP_0000006

先端腎-下顎症候群
type: Disease
type: C7057
has inheritance: HP_0000007

混合性酸化的リン酸化欠乏症12
type: Disease
type: C7057
has inheritance: HP_0000007

末端肥大症様変化-脳回状頭頂頭皮-角膜ロイコーマ
type: Disease
type: C7057
has inheritance: HP_0000006

多発性ミトコンドリア機能障害症候群2
type: Disease
type: C7057
has inheritance: HP_0000007

末端肥大症様顔貌症候群
type: Disease
type: C7057
has inheritance: HP_0000006

四肢先端中部短縮性異形成, Hunter-Thompson 型
type: Disease
type: C7057
has inheritance: HP_0000007

小肢端性異形成
type: Disease
type: C7057
has inheritance: HP_0000006

多発性ミトコンドリア機能障害症候群1
type: Disease
type: C7057
has inheritance: HP_0000007

先端腎症候群
type: Disease
type: C7057
has inheritance: HP_0000006

痙性, 小児期発症-高グリシン血症
type: Disease
type: C7057
has inheritance: HP_0000007

無指症, 片側性
type: Disease
type: C7057
has inheritance: HP_0000006

Adenine phosphoribosyltransferase 欠損症
type: Disease
type: C7057
has inheritance: HP_0000007

副腎筋ジストロフィー
type: Disease
type: C7057
has inheritance: HP_0001417

ADULT 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

Lipoyltransferase 1 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000007

高グリシン血症-乳酸性アテトーゼ-けいれん
type: Disease
type: C7057
has inheritance: HP_0000007

精巣退縮症候群
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001470

舌低形成-指趾低形成
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003745

無下顎-耳頭症複合
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

PAGOD 症候群
type: Disease
type: C7057

Danlon 病
type: Disease
type: C7057
has inheritance: HP_0001423

Pena-Shokeir 症候群 I 型
type: Disease
type: C7057
has inheritance: HP_0000007

皮膚性白皮症-難聴症候群
type: Disease
type: C7057
has inheritance: HP_0001417

アーミン表現型
type: Disease
type: C7057
has inheritance: HP_0000007

ミオパチー, 筋原線維性, 2
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0000007

Verheij 症候群
type: Disease
type: C7057
has inheritance: HP_0000006

大腸ポリープ症, 若年型 (PJI)
type: Disease
type: C7057
has inheritance: HP_0000006

下痢症 1, 分泌性クロール, 先天性
type: Disease
type: C7057
has inheritance: HP_0000007

Lactase 欠損症, 先天性
type: Disease
type: C7057
has inheritance: HP_0000007

GRACILE 症候群
type: Disease
type: C7057
has inheritance: HP_0000007

下顎骨幹異形成
type: Disease
type: C7057
has inheritance: HP_0000006

致死性関節拘縮-前角細胞病 (LAAHD)
type: Disease
type: C7057
has inheritance: HP_0000007

Mohr-Tranebjaerg 症候群
type: Disease
type: C7057
has inheritance: HP_0001419

筋萎縮, 単肢性
type: Disease
type: C7057
has inheritance: HP_0003745

難聴, 非症候群性感音性, ミトコンドリア性
type: Disease
type: C7057

高インスリン血症性低血糖, 家族性, 6
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001425

難聴, 常染色体劣性
type: Disease
type: C7057

三好筋ジストロフィー3
type: Disease
type: C7057
has inheritance: HP_0000007

形成対麻痺63, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

CFHR5 欠乏症
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー, 先天性, integrin α7欠乏による
type: Disease
type: C7057
has inheritance: HP_0000007

Charcot-Marie-Tooth 病-難聴
type: Disease
type: C7057
has inheritance: HP_0000006

低マグネシウム血症2, 腎性 (HOMG2)
type: Disease
type: C7057
has inheritance: HP_0000006

異赤血球造血性貧血, 先天性, アイルランド人またはWheathreall 型
type: Disease
type: C7057

ネフローゼ症候群7型
type: Disease
type: C7057
has inheritance: HP_0000007

耳口蓋指症候群 I 型
type: Disease
type: C7057
has inheritance: HP_0001423

Stickler 症候群 I 型 (STL1)
type: Disease
type: C7057
has inheritance: HP_0000006

耳-口蓋-指症候群 II 型
type: Disease
type: C7057
has inheritance: HP_0001423

Stickler 症候群 2型
type: Disease
type: C7057
has inheritance: HP_0000006

免疫不全症11A
type: Disease
type: C7057
has inheritance: HP_0000007

ジストロフィー, 肢帯型, 常染色体劣性7
type: Disease
type: C7057
has inheritance: HP_0000007

難聴-性腺機能低下症候群
type: Disease
type: C7057

口腔顔指症候群 VII 型
type: Disease
type: C7057

ミオパチー, 遠位3
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー, 肢帯型, 常染色体優性1
type: Disease
type: C7057
has inheritance: HP_0000006

筋ジストロフィー-ジストログリカン症 (肢帯), C型, 5
type: Disease
type: C7057
has inheritance: HP_0000007

脊髄小脳失調, 常染色体劣性-軸索性ニューロパチー
type: Disease
type: C7057
has inheritance: HP_0000007

ジストニア17, 捻転, 常染色体劣性
type: Disease
type: C7057
has inheritance: HP_0000007

小脳性運動失調, Cayman 型
type: Disease
type: C7057
has inheritance: HP_0000007

免疫不全, 胸腺欠損による
type: Disease
type: C7057
has inheritance: HP_0000007

単純型表皮水疱症, 全身性-瘢痕-毛髪喪失
type: Disease
type: C7057
has inheritance: HP_0000006

ミトコンドリアDNA欠乏症6 (肝腎型)
type: Disease
type: C7057
has inheritance: HP_0000007

Biemond 症候群 II
type: Disease
type: C7057
has inheritance: HP_0000007

高フェニールアラニン血症, 軽度, 非 BH4依存性
type: Disease
type: C7057
has inheritance: HP_0000007

前眼区異発生2
type: Disease
type: C7057
has inheritance: HP_0000007

小耳-無耳
type: Disease
type: C7057
has inheritance: HP_0000006

脊髄小脳性運動失調 7
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0003744

脳症, ミトコンドリアおよびペルオキシソーム癒合障害による2
type: Disease
type: C7057
has inheritance: HP_0000007

下顎顔面異骨症-巨大眼裂-大口症
type: Disease
type: C7057
has inheritance: HP_0003745

尿崩症, 神経視床下部型
type: Disease
type: C7057
has inheritance: HP_0000006
has inheritance: HP_0001417
has inheritance: HP_0001423

低マグネシウム血症-二次性低カルシウム血症 (HOMG)
type: Disease
type: C7057
has inheritance: HP_0000007

外胚葉形成不全, 有汗性, Christian- Fourie 型
type: Disease
type: C7057
has inheritance: HP_0000006

限局性顔面皮膚異形成3 Setleis 型
type: Disease
type: C7057
has inheritance: HP_0000007

Rodrigues 盲
type: Disease
type: C7057
has inheritance: HP_0000007

分節異常性異形成-緑内障
type: Disease
type: C7057
has inheritance: HP_0000007

胸郭四肢異形成
type: Disease
type: C7057
has inheritance: HP_0000007

Ghosal 造血骨幹異形成 (GHDD)
type: Disease
type: C7057
has inheritance: HP_0000007

後 湾曲肢異形成(CMD1; CMPD1)
type: Disease
type: C7057
has inheritance: HP_0000007