DOID:0110547
|
-
autosomal dominant nonsyndromic deafness 16
-
Aliases:
-
DFNA16
-
autosomal dominant deafness 16
|
|
|
Homo sapiens (human)
|
DOID:0110546
|
-
autosomal dominant nonsyndromic deafness 15
-
Aliases:
-
DFNA15
-
autosomal dominant deafness 15
|
|
|
Homo sapiens (human)
|
DOID:0110545
|
-
autosomal dominant nonsyndromic deafness 13
-
Aliases:
-
DFNA13
-
autosomal dominant deafness 13
|
|
|
Homo sapiens (human)
|
DOID:0110544
|
-
autosomal dominant nonsyndromic deafness 12
-
Aliases:
-
DFNA12
-
DFNA8
-
autosomal dominant deafness 12
-
autosomal dominant deafness 8
|
|
|
Homo sapiens (human)
|
DOID:0110543
|
-
autosomal dominant nonsyndromic deafness 11
-
Aliases:
-
DFNA11
-
autosomal dominant deafness 11
|
|
|
Homo sapiens (human)
|
DOID:0110542
|
-
autosomal dominant nonsyndromic deafness 10
-
Aliases:
-
DFNA10
-
autosomal dominant deafness 10
|
|
|
Homo sapiens (human)
|
DOID:0110541
|
-
autosomal dominant nonsyndromic deafness 1
-
Aliases:
-
DFNA1
-
Konigsmark syndrome
-
LFHL1
-
autosomal dominant deafness 1
-
autosomal dominant deafness 1, with or without thrombocytopenia
-
hereditary low frequency hearing loss 1
|
|
|
Homo sapiens (human)
|
DOID:0110273
|
-
autosomal dominant limb-girdle muscular dystrophy
|
|
|
Homo sapiens (human)
|
DOID:0110306
|
-
autosomal dominant limb-girdle muscular dystrophy type 3
-
Aliases:
-
LGMD1G
-
autosomal dominant limb-girdle muscular dystrophy type 1G
-
muscular dystrophy limb-girdle type 1G
|
|
|
Homo sapiens (human)
|
DOID:0110304
|
-
autosomal dominant limb-girdle muscular dystrophy type 2
-
Aliases:
-
LGMD1F
-
autosomal dominant limb-girdle muscular dystrophy type 1F
-
muscular dystrophy limb-girdle type 1F
|
|
|
Homo sapiens (human)
|
DOID:0110303
|
-
autosomal dominant limb-girdle muscular dystrophy type 1H
-
Aliases:
-
LGMD1H
-
muscular dystrophy limb-girdle type 1H
|
|
|
Homo sapiens (human)
|
DOID:0110305
|
-
autosomal dominant limb-girdle muscular dystrophy type 1
-
Aliases:
-
LGMD1D
-
autosomal dominant limb-girdle muscular dystrophy type 1E
-
muscular dystrophy limb-girdle type 1D
-
muscular dystrophy limb-girdle type 1E
|
|
|
Homo sapiens (human)
|
DOID:0060307
|
-
autosomal dominant intellectual developmental disorder
-
Aliases:
-
autosomal dominant mental retardation
-
autosomal dominant non-syndromic mental retardation
|
|
|
Homo sapiens (human)
|
DOID:0070034
|
-
autosomal dominant intellectual developmental disorder 4
-
Aliases:
-
MRD4
-
autosomal dominant mental retardation 4
-
autosomal dominant non-syndromic intellectual disability 4
|
|
|
Homo sapiens (human)
|
DOID:0050948
|
-
autosomal dominant hypophosphatemic rickets
|
|
|
Homo sapiens (human)
|
DOID:0090109
|
-
autosomal dominant hypocalcemia
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0090107
|
-
autosomal dominant hypocalcemia 1
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0090018
|
-
autosomal dominant familial periodic fever
-
Aliases:
-
FHF
-
FPF
-
TNF receptor associated periodic syndrome
-
TRAPS
-
familial Hibernian fever
-
hibernian fever
-
tumor necrosis factor receptor associated periodic syndrome
|
|
|
Homo sapiens (human)
|
DOID:0070014
|
-
autosomal dominant dyskeratosis congenita 1
-
Aliases:
-
DKCA1
-
Dyskeratosis Congenita, Scoggins Type
|
|
|
Homo sapiens (human)
|
DOID:0111206
|
-
autosomal dominant distal hereditary motor neuronopathy 2
-
Aliases:
-
HMN II
-
HMN IIA
-
HMN2
-
HMN2A
-
autosomal dominant adult spinal muscular atrophy IIA
-
distal hereditary motor neuronopathy type 2
-
distal hereditary motor neuronopathy type 2A
-
distal hereditary motor neuropathy type II
-
distal hereditary motor neuropathy type IIA
-
spinal Charcot-Marie-Tooth disease IIA
|
|
|
Homo sapiens (human)
|
DOID:0070142
|
-
autosomal dominant cutis laxa
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0070131
|
-
autosomal dominant cutis laxa 3
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0070136
|
-
autosomal dominant cutis laxa 2
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0070130
|
-
autosomal dominant cutis laxa 1
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0060293
|
-
autosomal dominant chondrodysplasia punctata
|
|
|
Homo sapiens (human)
|