|
pneumoconiosis from coal dust
|
6654 |
|
|
early-onset non-syndromic cataract caused by mutation in BFSP1
|
12665 |
|
|
hystrix-like, with deafness ichthyosis
|
C566528 |
|
|
intraventricular septal defect, and deafness brachydactyly
|
C566521 |
|
|
congenital, with deafness, penoscrotal web, and mental retardation emphysema
|
C566519 |
|
|
l-xylulose reductase deficiency
|
C536652 |
|
|
multiple carboxylase deficiency, juvenile-onset
|
9665 |
|
|
ptosis vocal cord paralysis
|
8665 |
|
|
multiple carboxylase deficiency, late-onset
|
9665 |
|
|
chromosome 8p23.1 deletion
|
16658 |
|
|
X-linked intellectual disability - gynecomastia - obesity
|
10665 |
|
|
rare genetic disease with myoclonus as a major feature
|
17665.0 |
|
|
X-linked intellectual disability-gynecomastia-obesity syndrome
|
10665 |
|
|
NAGLU Charcot-Marie-Tooth disease
|
14665 |
|
