Search Ontology:
Human Disease
familial hypertryptophanemia
- Term ID
- DOID:0111703
- Synonyms
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- HYPTRP
- 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. (2)
- References
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- GARD:2871
- MESH:C563467
- MIM:600627
- Ontology
- Human Disease ( DOID:0111703 )
- is a type of
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Genes Involved
Zebrafish Models