|
cardiomyopathy, hypogonadism and metabolic anomalies
|
43077 |
|
|
hereditary motor and sensory neuropathy 1
|
7307 |
|
|
hereditary motor and sensory neuropathy 1B
|
7307 |
|
|
hereditary motor and sensory neuropathy IB
|
7307 |
|
|
mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2
|
13307 |
|
|
acute rheumatic arthritis
|
43079 |
|
|
patella aplasia and tarsal synostosis congenital coxa vara
|
C536307 |
|
|
coxa vara, and tarsal synostosis patella aplasia
|
C536307 |
|
|
Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B
|
7307 |
|
|
SCA8 spinocerebellar ataxia 8
|
C537307 |
|
|
neurodegeneration with brain iron accumulation
|
18307 |
|
|
generalized atrophic benign epidermolysis bullosa
|
19307 |
|
|
junctional epidermolysis bullosa generalisata mitis
|
19307 |
|
|
junctional epidermolysis bullosa non-Herlitz type
|
19307 |
|
