|
familial juvenile hyperuricemic nephropathy 2
|
C567760 |
|
|
amelogenesis imperfecta, hypomaturation type, iia3
|
C567706 |
|
|
hypomaturation type, iia3 amelogenesis imperfecta
|
C567706 |
|
|
bartter syndrome, infantile, with sensorineural deafness
|
C567762 |
|
|
autosomal recessive inflammatory bowel disease 28
|
C567728 |
|
|
alopecia, cutis laxa, and scoliosis macrocephaly
|
C567770 |
|
|
isolated 4 microphthalmia
|
C567757 |
|
|
partial, with minifascicular neuropathy 46,xy gonadal dysgenesis
|
C567773 |
|
|
familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease candidiasis
|
C567779 |
|
|
congenital, lmna-related muscular dystrophy
|
C567708 |
|
|
epilepsy, benign neonatal, 1, and-or myokymia
|
C567743 |
|
|
benign familial neonatal, 1, and-or myokymia convulsions
|
C567744 |
|
|
epilepsy, benign neonatal, 1, atypical severe
|
C567745 |
|
|
benign familial neonatal, 1, atypical severe convulsions
|
C567746 |
|
|
severe congenital neutropenia-2
|
C567748 |
|
