| Metadata | |
|---|---|
| ID | DOID:0111703 |
| Name | familial hypertryptophanemia |
| Definition | An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. https://www.ncbi.nlm.nih.gov/pubmed/28285122, https://www.ncbi.nlm.nih.gov/pubmed/7628119 |
| Xrefs |
SNOMEDCT_US_2023_03_01:721838005 |
| Subsets |
DO_rare_slim |
| Synonyms |
HYPTRP [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |