DOID:0060574
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von Willebrand's disease 2
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Aliases:
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VWD type 2
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VWD2
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von Willebrand disease type 2
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von Willebrand disease type II
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Homo sapiens (human)
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DOID:9120
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Homo sapiens (human)
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DOID:0050657
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Bannayan-Riley-Ruvalcaba syndrome
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Aliases:
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Bannayan-Zonana syndrome
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Cowden syndrome 1
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Riley-Smith syndrome
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Ruvalcaba-Myhre-Smith syndrome
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Homo sapiens (human)
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DOID:6457
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Cowden syndrome
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Aliases:
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Cowden disease
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Lhermitte-Duclos disease
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dysplastic Gangliocytoma of Cerebellum
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Homo sapiens (human)
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DOID:9884
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Homo sapiens (human)
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DOID:0110276
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autosomal recessive limb-girdle muscular dystrophy type 2B
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Aliases:
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LGMD2B
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LGMD3
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limb-girdle muscular dystrophy due to dysferlin deficiency
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limb-girdle muscular dystrophy type 3
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Homo sapiens (human)
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DOID:0110275
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autosomal recessive limb-girdle muscular dystrophy type 2A
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Aliases:
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LGMD2A
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Leyden-Moebius muscular dystrophy
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limb-girdle muscular dystrophy due to calpain deficiency
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muscular dystrophy, limb-girdle, type 2A
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pelvofemoral muscular dystrophy
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primary calpainopathy
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Homo sapiens (human)
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DOID:11720
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distal myopathy
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Aliases:
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distal muscular dystrophy
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Homo sapiens (human)
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DOID:0110277
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autosomal recessive limb-girdle muscular dystrophy type 2C
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Aliases:
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DMDA1
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LGMD2C
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Maghrebian myopathy
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SCARMD
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autosomal recessive Duchenne-like muscular dystrophy type 1
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deficiency of sarcoglycan gamma
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gamma-sarcoglycanopathy
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limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
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muscular dystrophy, limb-girdle, type 2C
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severe childhood autosomal recessive muscular dystrophy North African type
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Homo sapiens (human)
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DOID:0110301
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obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
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Homo sapiens (human)
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DOID:0110296
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autosomal recessive limb-girdle muscular dystrophy type 2M
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Aliases:
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LGMD2M
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MDDGC4
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muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
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Homo sapiens (human)
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DOID:0110294
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autosomal recessive limb-girdle muscular dystrophy type 2T
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Aliases:
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LGMD2T
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MDDGC14
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muscular dystrophy limb-girdle type 2T
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muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
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muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
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Homo sapiens (human)
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DOID:0110295
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autosomal recessive limb-girdle muscular dystrophy type 2U
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Aliases:
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LGMD2U
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MDDGC7
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autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
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muscular dystrophy limb-girdle type 2U
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muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
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Homo sapiens (human)
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DOID:0110283
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autosomal recessive limb-girdle muscular dystrophy type 2J
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Aliases:
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LGMD2J
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muscular dystrophy, limb-girdle, type 2J
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Homo sapiens (human)
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DOID:0110292
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autosomal recessive limb-girdle muscular dystrophy type 2O
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Aliases:
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LGMD2O
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MDDGC3
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muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
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muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
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Homo sapiens (human)
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DOID:0110289
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autosomal recessive limb-girdle muscular dystrophy type 2Y
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Aliases:
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LGMD2Y
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autosomal recessive muscular dystrophy due to LAP1B deficiency
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autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
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muscular dystrophy with progressive weakness, distal contractures and rigid spine
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muscular dystrophy, limb-girdle, type 2Y
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Homo sapiens (human)
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DOID:0110282
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autosomal recessive limb-girdle muscular dystrophy type 2H
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Aliases:
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LGMD2H
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limb-girdle muscular dystrophy due to TRIM32 deficiency
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muscular dystrophy Hutterite type
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sarcotubular myopathy
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Homo sapiens (human)
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DOID:0110279
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autosomal recessive limb-girdle muscular dystrophy type 2E
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Aliases:
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Beta-sarcoglycanopathy
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LGMD2E
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Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
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muscular dystrophy, limb-girdle, type 2E
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Homo sapiens (human)
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DOID:0110278
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autosomal recessive limb-girdle muscular dystrophy type 2D
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Aliases:
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Alpha-sarcoglycanopathy
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DMDA2
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Duchenne-like autosomal recessive muscular dystrophy type 2
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LGMD2D
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muscular dystrophy, limb-girdle, type 2D
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primary adhalinopathy
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Homo sapiens (human)
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DOID:0110302
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obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
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Homo sapiens (human)
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DOID:11724
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limb-girdle muscular dystrophy
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Aliases:
-
Erb's muscular dystrophy
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Leyden-Mbius muscular dystrophy
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limb girdle muscular dystrophy
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Homo sapiens (human)
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DOID:0110285
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autosomal recessive limb-girdle muscular dystrophy type 2Q
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Aliases:
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LGMD2Q
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autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
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muscular dystrophy, limb-girdle, type 2Q
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Homo sapiens (human)
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DOID:0110293
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autosomal recessive limb-girdle muscular dystrophy type 2P
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Aliases:
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LGMD2P
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MDDGC9
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muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
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muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
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Homo sapiens (human)
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DOID:0110306
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autosomal dominant limb-girdle muscular dystrophy type 3
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Aliases:
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LGMD1G
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autosomal dominant limb-girdle muscular dystrophy type 1G
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muscular dystrophy limb-girdle type 1G
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Homo sapiens (human)
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DOID:0110286
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obsolete autosomal recessive limb-girdle muscular dystrophy type 2R
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Homo sapiens (human)
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