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DO Term : alkaptonuria [DOID:9270] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

synonyms:
SNOMEDCT_US_2023_03_01:24250001,
NCI:C84546,
deficiency of homogentisicase,
GARD:5775,
ORDO:56,
DOID:0050714,
ICD10CM:E70.29,
alcaptonuria,
UMLS_CUI:C0002066,
Homogentisate 1,2-dioxygenase deficiency,
203500,
MESH:D000474,
OMIM:203500

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

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