|
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 |
|
|
post-transplant lymphoproliferative disease
|
19088 |
|
|
aplasia cutis congenita dominant
|
21908 |
|
|
pancreatic agenesis, congenital
|
C564908 |
|
|
Acetyl-CoA:alpha-Glucosaminide n-acetyltransferase deficiency
|
D009084 |
|
|
n-acetylglucosamine-6-sulfate sulfatase deficiency
|
D009084 |
|
|
arylsulfatase b deficiency
|
D009087 |
|
|
ganglioside sialidase deficiency disease
|
D009081 |
|
|
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
|
9908 |
|
|
pterin-4 alpha-carbinolamine dehydratase deficiency
|
9908 |
|
