DOID:0081427
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autosomal recessive distal hereditary motor neuronopathy 8
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Aliases:
-
SORDD
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sorbitol dehydrogenase deficiency with peripheral neuropathy
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|
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Homo sapiens (human)
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DOID:0090105
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autosomal recessive hypercholesterolemia
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Aliases:
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ARH
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ARH1
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ARH2
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FHCB1
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FHCB2
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autosomal recessive hypercholesterolemia 1
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autosomal recessive hypercholesterolemia 2
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familial autosomal recessive hypercholesterolemia
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|
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Homo sapiens (human)
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DOID:0050949
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-
autosomal recessive hypophosphatemic rickets
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|
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Homo sapiens (human)
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DOID:0081180
|
-
autosomal recessive intellectual developmental disorder 12
|
|
|
Homo sapiens (human)
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DOID:0081188
|
-
autosomal recessive intellectual developmental disorder 14
|
|
|
Homo sapiens (human)
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DOID:0081210
|
-
autosomal recessive intellectual developmental disorder 46
|
|
|
Homo sapiens (human)
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DOID:0081215
|
-
autosomal recessive intellectual developmental disorder 52
|
|
|
Homo sapiens (human)
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DOID:0081219
|
-
autosomal recessive intellectual developmental disorder 57
|
|
|
Homo sapiens (human)
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DOID:0081221
|
-
autosomal recessive intellectual developmental disorder 59
|
|
|
Homo sapiens (human)
|
DOID:0081183
|
-
autosomal recessive intellectual developmental disorder 7
|
|
|
Homo sapiens (human)
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DOID:0060308
|
-
autosomal recessive intellectual developmental disorder
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Aliases:
-
autosomal recessive mental retardation
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autosomal recessive non-syndromic mental retardation
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|
|
Homo sapiens (human)
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DOID:0110275
|
-
autosomal recessive limb-girdle muscular dystrophy type 2A
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Aliases:
-
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
|
|
|
Homo sapiens (human)
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DOID:0110276
|
-
autosomal recessive limb-girdle muscular dystrophy type 2B
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Aliases:
-
LGMD2B
-
LGMD3
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limb-girdle muscular dystrophy due to dysferlin deficiency
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limb-girdle muscular dystrophy type 3
|
|
|
Homo sapiens (human)
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DOID:0110277
|
-
autosomal recessive limb-girdle muscular dystrophy type 2C
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Aliases:
-
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)
|
DOID:0110278
|
-
autosomal recessive limb-girdle muscular dystrophy type 2D
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Aliases:
-
Alpha-sarcoglycanopathy
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DMDA2
-
Duchenne-like autosomal recessive muscular dystrophy type 2
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LGMD2D
-
muscular dystrophy, limb-girdle, type 2D
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primary adhalinopathy
|
|
|
Homo sapiens (human)
|
DOID:0110279
|
-
autosomal recessive limb-girdle muscular dystrophy type 2E
-
Aliases:
-
Beta-sarcoglycanopathy
-
LGMD2E
-
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
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muscular dystrophy, limb-girdle, type 2E
|
|
|
Homo sapiens (human)
|
DOID:0110280
|
-
autosomal recessive limb-girdle muscular dystrophy type 2F
-
Aliases:
-
LGMD2F
-
delta-sarcoglycanopathy
-
limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
|
|
|
Homo sapiens (human)
|
DOID:0110281
|
-
autosomal recessive limb-girdle muscular dystrophy type 2G
-
Aliases:
-
LGMD2G
-
limb-girdle muscular dystrophy due to telethonin deficiency
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muscular dystrophy, limb-girdle, type 2G
|
|
|
Homo sapiens (human)
|
DOID:0110282
|
-
autosomal recessive limb-girdle muscular dystrophy type 2H
-
Aliases:
-
LGMD2H
-
limb-girdle muscular dystrophy due to TRIM32 deficiency
-
muscular dystrophy Hutterite type
-
sarcotubular myopathy
|
|
|
Homo sapiens (human)
|
DOID:0110299
|
-
autosomal recessive limb-girdle muscular dystrophy type 2I
-
Aliases:
-
LGMD2I
-
Limb-girdle muscular dystrophy due to FKRP deficiency
-
MDDGC5
-
muscular dystrophy limb-girdle type 2I
-
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
-
muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
|
|
|
Homo sapiens (human)
|
DOID:0110283
|
-
autosomal recessive limb-girdle muscular dystrophy type 2J
-
Aliases:
-
LGMD2J
-
muscular dystrophy, limb-girdle, type 2J
|
|
|
Homo sapiens (human)
|
DOID:0110297
|
-
autosomal recessive limb-girdle muscular dystrophy type 2K
-
Aliases:
-
LGMD2K
-
MDDGC1
-
limb-girdle muscular dystrophy-intellectual disability syndrome
-
muscular dystrophy limb-girdle type 2K
-
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
|
|
|
Homo sapiens (human)
|
DOID:0110284
|
-
autosomal recessive limb-girdle muscular dystrophy type 2L
-
Aliases:
-
LGMD2L
-
muscular dystrophy, limb-girdle, type 2L
|
|
|
Homo sapiens (human)
|
DOID:0110296
|
-
autosomal recessive limb-girdle muscular dystrophy type 2M
-
Aliases:
-
LGMD2M
-
MDDGC4
-
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
|
|
|
Homo sapiens (human)
|
DOID:0110298
|
-
autosomal recessive limb-girdle muscular dystrophy type 2N
-
Aliases:
-
LGMD2N
-
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
-
muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
|
|
|
Homo sapiens (human)
|