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DO Term : inherited metabolic disorder [DOID:655] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.

synonyms:
inborn metabolism disorder,
SNOMEDCT_US_2023_03_01:86095007,
MESH:D008661,
NCI:C34816,
UMLS_CUI:C0025521,
Metabolic hereditary disorder,
Inborn Errors of Metabolism

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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