|
split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive
|
9080 |
|
|
split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive; SHFM1D
|
http://purl.obolibrary.org/obo/MONDO_0009080 |
|
|
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 |
|
|
Schaap Taylor Baraitser syndrome
|
42908 |
|
|
mucopolysaccharidosis type IIIAs
|
D009084 |
|
|
mucopolysaccharidosis type IIIBs
|
D009084 |
|
