|
autosomal recessive inflammatory bowel disease 25
|
C567251 |
|
|
niemann-pick disease, intermediate, protracted neurovisceral
|
C567268 |
|
|
benign familial infantile, 4 convulsions
|
C567231 |
|
|
benign familial infantile, 4 seizures
|
C567231 |
|
|
Blastomyces dermatitidis infection
|
5672 |
|
|
niemann-pick disease, intermediate, with visceral involvement and rapid progression
|
C567267 |
|
|
mental retardation, joint hypermobility, and skin laxity, with or without metabolic abnormalities
|
C567209 |
|
|
berardinelli-seip congenital lipodystrophy, type 3
|
C567282 |
|
|
congenital, compton-north myopathy
|
C567261 |
|
|
intermediate, protracted neurovisceral niemann-pick disease
|
C567268 |
|
|
bilateral occipital polymicrogyria
|
C567201 |
|
|
polymicrogyria, bilateral occipital
|
C567201 |
|
|
recurrent paresis of cranial nerves
|
C565672 |
|
|
congenital, and onychodystrophy, autosomal dominant deafness
|
C567274 |
|
|
digenic retinitis pigmentosa 7
|
C567263 |
|
