DOID:0110474
|
-
autosomal recessive nonsyndromic deafness 18B
-
Aliases:
-
DFNB18B
-
autosomal recessive deafness 18B
|
|
|
Homo sapiens (human)
|
DOID:0110473
|
-
autosomal recessive nonsyndromic deafness 18A
-
Aliases:
-
DFNB18A
-
autosomal recessive deafness 18A
|
|
|
Homo sapiens (human)
|
DOID:0110472
|
-
autosomal recessive nonsyndromic deafness 17
-
Aliases:
-
DFNB17
-
autosomal recessive deafness 17
|
|
|
Homo sapiens (human)
|
DOID:0110471
|
-
autosomal recessive nonsyndromic deafness 16
-
Aliases:
-
DFNB16
-
autosomal recessive deafness 16
|
|
|
Homo sapiens (human)
|
DOID:0110470
|
-
autosomal recessive nonsyndromic deafness 15
-
Aliases:
-
DFNB15
-
DFNB72
-
DFNB95
-
autosomal recessive deafness 15
-
autosomal recessive deafness 72
-
autosomal recessive deafness 95
|
|
|
Homo sapiens (human)
|
DOID:0110469
|
-
autosomal recessive nonsyndromic deafness 14
-
Aliases:
-
DFNB14
-
autosomal recessive deafness 14
|
|
|
Homo sapiens (human)
|
DOID:0110468
|
-
autosomal recessive nonsyndromic deafness 13
-
Aliases:
-
DFNB13
-
autosomal recessive deafness 13
|
|
|
Homo sapiens (human)
|
DOID:0110467
|
-
autosomal recessive nonsyndromic deafness 12
-
Aliases:
-
DFNB12
-
autosomal recessive deafness 12
|
|
|
Homo sapiens (human)
|
DOID:0110465
|
-
autosomal recessive nonsyndromic deafness 104
-
Aliases:
-
DFNB104
-
autosomal recessive deafness 104
|
|
|
Homo sapiens (human)
|
DOID:0110464
|
-
autosomal recessive nonsyndromic deafness 103
-
Aliases:
-
DFNB103
-
autosomal recessive deafness 103
|
|
|
Homo sapiens (human)
|
DOID:0110463
|
-
autosomal recessive nonsyndromic deafness 102
-
Aliases:
-
DFNB102
-
autosomal recessive deafness 102
|
|
|
Homo sapiens (human)
|
DOID:0110462
|
-
autosomal recessive nonsyndromic deafness 101
-
Aliases:
-
DFNB101
-
autosomal recessive deafness 101
|
|
|
Homo sapiens (human)
|
DOID:0110274
|
-
autosomal recessive limb-girdle muscular dystrophy
|
|
|
Homo sapiens (human)
|
DOID:0080762
|
-
autosomal recessive limb-girdle muscular dystrophy type 2Z
-
Aliases:
-
limb-girdle muscular dystrophy 21
|
|
|
Homo sapiens (human)
|
DOID:0110289
|
-
autosomal recessive limb-girdle muscular dystrophy type 2Y
-
Aliases:
-
LGMD2Y
-
autosomal recessive muscular dystrophy due to LAP1B deficiency
-
autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
-
muscular dystrophy with progressive weakness, distal contractures and rigid spine
-
muscular dystrophy, limb-girdle, type 2Y
|
|
|
Homo sapiens (human)
|
DOID:0110295
|
-
autosomal recessive limb-girdle muscular dystrophy type 2U
-
Aliases:
-
LGMD2U
-
MDDGC7
-
autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
-
muscular dystrophy limb-girdle type 2U
-
muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
|
|
|
Homo sapiens (human)
|
DOID:0110294
|
-
autosomal recessive limb-girdle muscular dystrophy type 2T
-
Aliases:
-
LGMD2T
-
MDDGC14
-
muscular dystrophy limb-girdle type 2T
-
muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
-
muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
|
|
|
Homo sapiens (human)
|
DOID:0110287
|
-
autosomal recessive limb-girdle muscular dystrophy type 2S
-
Aliases:
-
LGMD2S
-
muscular dystrophy, limb-girdle, type 2S
|
|
|
Homo sapiens (human)
|
DOID:0110285
|
-
autosomal recessive limb-girdle muscular dystrophy type 2Q
-
Aliases:
-
LGMD2Q
-
autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
-
muscular dystrophy, limb-girdle, type 2Q
|
|
|
Homo sapiens (human)
|
DOID:0110293
|
-
autosomal recessive limb-girdle muscular dystrophy type 2P
-
Aliases:
-
LGMD2P
-
MDDGC9
-
muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
-
muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
|
|
|
Homo sapiens (human)
|
DOID:0110292
|
-
autosomal recessive limb-girdle muscular dystrophy type 2O
-
Aliases:
-
LGMD2O
-
MDDGC3
-
muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
-
muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
|
|
|
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)
|
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:0110284
|
-
autosomal recessive limb-girdle muscular dystrophy type 2L
-
Aliases:
-
LGMD2L
-
muscular dystrophy, limb-girdle, type 2L
|
|
|
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)
|