|
aplasia cutis congenita dominant
|
21908 |
|
|
pancreatic agenesis, congenital
|
C564908 |
|
|
high myopia-sensorineural deafness syndrome
|
9082 |
|
|
nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy
|
9086 |
|
|
cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature
|
42908 |
|
|
glycoprotein neuraminidase deficiencies
|
D009081 |
|
|
Acetyl-CoA:alpha-Glucosaminide n-acetyltransferase deficiencies
|
D009084 |
|
|
n-acetylglucosamine-6-sulfate sulfatase deficiencies
|
D009084 |
|
|
arylsulfatase b deficiencies
|
D009087 |
|
|
7-dehydrocholesterol reductase deficiencies
|
D019082 |
|
|
N-acetylglucosaminyltransferase 2 deficiency
|
8908 |
|
|
Acetyl-CoA:alpha-Glucosaminide n-acetyltransferase deficiency
|
D009084 |
|
