| Metadata | |
|---|---|
| ID | DOID:0111270 |
| Name | isolated sulfite oxidase deficiency |
| Definition | An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. https://www.ncbi.nlm.nih.gov/books/NBK453433/, https://www.ncbi.nlm.nih.gov/pubmed/6025118, https://www.ncbi.nlm.nih.gov/pubmed/9428520 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237935000 SNOMEDCT_US_2023_03_01:40873003 |
| Subsets |
DO_rare_slim |
| Synonyms |
sulfocysteinuria [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |