46,XX gonadal dysgenesis
|
(Orphanet:243)
|
46,XX ovotesticular disorder of sex development
|
(Orphanet:2138)
|
46,XX testicular disorder of sex development
|
(Orphanet:393)
|
46,XY complete gonadal dysgenesis
|
(Orphanet:242)
|
Albright hereditary osteodystrophy
|
(Orphanet:665)
|
Alström syndrome
|
(Orphanet:64)
|
Alveolar echinococcosis
|
(Orphanet:284)
|
Ataxia-telangiectasia
|
(Orphanet:100)
|
Bangstad syndrome
|
(Orphanet:1227)
|
Bardet-Biedl syndrome
|
(Orphanet:110)
|
Berardinelli-Seip congenital lipodystrophy
|
(Orphanet:528)
|
CHILD syndrome
|
(Orphanet:139)
|
Congenital muscular dystrophy - infantile cataract - hypogonadism
|
(Orphanet:1875)
|
Cowden syndrome
|
(Orphanet:201)
|
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
(Orphanet:2229)
|
Distal monosomy 10p
|
(Orphanet:1580)
|
Double uterus - hemivagina - renal agenesis
|
(Orphanet:3411)
|
Familial partial lipodystrophy associated with PPARG mutations
|
(Orphanet:79083)
|
Familial partial lipodystrophy due to AKT2 mutations
|
(Orphanet:79085)
|
Familial partial lipodystrophy, Dunnigan type
|
(Orphanet:2348)
|
Familial partial lipodystrophy, Köbberling type
|
(Orphanet:79084)
|
Gonadal dysgenesis, XY type - associated anomalies
|
(Orphanet:1770)
|
Gorlin syndrome
|
(Orphanet:377)
|
Hypodontia - dysplasia of nails
|
(Orphanet:2228)
|
Hypoplasminogenemia
|
(Orphanet:722)
|
McCune-Albright syndrome
|
(Orphanet:562)
|
Non-histaminic angioedema
|
(Orphanet:658)
|
Perrault Syndrome
|
(Orphanet:2855)
|
Perrault Syndrome 3
|
(OMIM:614129)
|
Polycystic ovaries - urethral sphincter dysfunction
|
(Orphanet:2795)
|
Primary hypergonadotropic hypogonadism - partial alopecia
|
(Orphanet:2232)
|
Primary lipodystrophy
|
(Orphanet:90970)
|
Proteus syndrome
|
(Orphanet:744)
|
Proteus-like syndrome
|
(Orphanet:2969)
|
Rabson-Mendenhall syndrome
|
(Orphanet:769)
|
Renal cysts and diabetes syndrome
|
(Orphanet:93111)
|
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism
|
(Orphanet:3085)
|
Satoyoshi syndrome
|
(Orphanet:3130)
|
Turner syndrome
|
(Orphanet:881)
|
Williams syndrome
|
(Orphanet:904)
|
Xp22.3 microdeletion syndrome
|
(Orphanet:1643)
|