|
autosomal dominant 59 deafness
|
C567216 |
|
|
autosomal recessive, Idh3b-Related retinitis pigmentosa
|
C567249 |
|
|
wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome
|
C567292 |
|
|
aniridia, genitourinary anomalies, mental retardation, and obesity syndrome wilms tumor
|
C567292 |
|
|
severe congenital, autosomal recessive 4 neutropenia
|
C567260 |
|
|
immunodeficiency, hypogammaglobulinemia, and reduced b cells
|
C567200 |
|
|
joint hypermobility, and skin laxity, with or without metabolic abnormalities mental retardation
|
C567209 |
|
|
microcephaly, primary autosomal recessive, 5, with simplified gyral pattern
|
C567221 |
|
|
type 3 berardinelli-seip congenital lipodystrophy
|
C567282 |
|
|
hearing loss, ataxia, retinitis pigmentosa, and cataract polyneuropathy
|
C567203 |
|
|
retinitis pigmentosa, autosomal recessive, Idh3b-Related
|
C567249 |
|
|
neutropenia, severe congenital, autosomal recessive 4
|
C567260 |
|
|
leukopenia, and atrial septal defect pulmonary arterial hypertension
|
C567260 |
|
|
North American blastomycosis
|
5672 |
|
|
Blastomyces dermatitidis caused disease or disorder
|
5672 |
|
