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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 |
T744864 T744863 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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