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Disease Ontology Browser
familial hypertryptophanemia (DOID:0111703)
Alliance: disease page
Synonyms: HYPTRP
Alt IDs: OMIM:600627, MESH:C563467, ORDO:2224, UMLS_CUI:C2931837
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory