|
autosomal recessive 35 deafness
|
C563908 |
|
|
complement component 6 deficiency
|
12908 |
|
|
complement component 6 deficiency, subtotal
|
12908 |
|
|
complement component 6 deficiency; C6D
|
http://purl.obolibrary.org/obo/MONDO_0012908 |
|
|
n acetylglucosamine 6 sulfatase deficiency
|
D009084 |
|
|
n acetylglucosamine 6 sulfate sulfatase deficiency
|
D009084 |
|
|
reductase deficiencies, 7-dehydrocholesterol
|
D019082 |
|
|
reductase deficiency, 7-dehydrocholesterol
|
D019082 |
|
|
n-acetyltransferase deficiencies, Acetyl-CoA:alpha-Glucosaminide
|
D009084 |
|
|
n-acetyltransferase deficiency, Acetyl-CoA:alpha-Glucosaminide
|
D009084 |
|
|
Schaap Taylor Baraitser syndrome
|
42908 |
|
|
hyperphenylalaninemia, BH4-deficient, D
|
9908 |
|
|
hyperphenylalaninemia, BH4-deficient, D; HPABH4D
|
http://purl.obolibrary.org/obo/MONDO_0009908 |
|
|
intellectual disability, Growth retardation, prominent columella, and open mouth
|
8908 |
|
