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 |