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DO Term : Hartnup disease [DOID:1060] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.

synonyms:
ICD10CM:E72.02,
234500,
OMIM:234500,
UMLS_CUI:C0018609,
SNOMEDCT_US_2023_03_01:80902009,
deficiency of tryptophan oxygenase,
MESH:D006250,
NCI:C84748,
Neutral 1 amino acid transport defect,
GARD:6569,
neutral amino acid transport defect

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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