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DO Term : familial hypertryptophanemia [DOID:0111703] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • HYPTRP,
  • UMLS_CUI:C2931837,
  • OMIM:600627,
  • SNOMEDCT_US_2023_03_01:721838005,
  • GARD:2871,
  • ORDO:2224,
  • 600627,
  • MESH:C563467
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents