|
type 1 smith-lemli-opitz syndrome
|
D019082 |
|
|
type 2 smith-lemli-opitz syndrome
|
D019082 |
|
|
type II smith-lemli-opitz syndrome
|
D019082 |
|
|
type i smith-lemli-opitz syndrome
|
D019082 |
|
|
myoclonus-cherry red spot syndrome
|
D009081 |
|
|
cherry red spot-myoclonus syndrome
|
D009081 |
|
|
deficiencies, n-acetylglucosamine-6-sulfate sulfatase
|
D009084 |
|
|
deficiency, n-acetylglucosamine-6-sulfate sulfatase
|
D009084 |
|
|
galactosamine 6 sulfatase deficiency
|
D009085 |
|
|
lipomatosis, multiple symmetric
|
7908 |
|
|
lipomatosis, multiple symmetric; MSL
|
http://purl.obolibrary.org/obo/MONDO_0007908 |
|
|
Groll Hirschowitz syndrome
|
9086 |
|