| Metadata | |
|---|---|
| ID | DOID:0090142 |
| Name | cystathioninuria |
| Definition | An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. https://www.ncbi.nlm.nih.gov/pubmed/20584029, https://www.omim.org/entry/219500 |
| Xrefs |
SNOMEDCT_US_2023_03_01:13003007 SNOMEDCT_US_2023_03_01:6885006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
cystathionase deficiency [EXACT] cystathione gamma-lyase deficiency syndrome [EXACT] gamma-cystathionase deficiency [EXACT] |
| Parent Relationships |