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loading...| Preferred Name | Sulfite oxidase deficiency | |
| Synonyms |
Sulfocysteinuria |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C538141 |
|
| altLabel |
Sulfocysteinuria |
|
| cui |
C0268624 C2931746 |
|
| Has mapping qualifier | ||
| HM |
D050876/Q000172 D000592 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
39 |
|
| MMR |
20150927 |
|
| notation |
C538141 |
|
| prefLabel |
Sulfite oxidase deficiency |
|
| SC |
3 |
|
| Scope Statement |
An autosomal recessive metabolic disorder caused by mutations in the SUOX gene (sulfite oxidase). Findings may include ECTOPIA LENTIS; ECZEMA; HEMIPLEGIA; MUSCLE HYPOTONIA or MUSCLE HYPERTONIA; SEIZURES; ATAXIA and DEVELOPMENTAL DISABILITIES. It is characterized by increased urinary sulfite and decreased urinary sulfate and may be lethal in infancy. OMIM: 272300 |
|
| TERMUI |
T744863 T744864 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |
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