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DO Term : ornithine carbamoyltransferase deficiency [DOID:9271] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

synonyms:
ornithine transcarbamylase deficiency,
NCI:C84957,
OMIM:311250,
SNOMEDCT_US_2023_03_01:80908008,
311250,
MESH:D020163,
ICD10CM:E72.4,
deficiency of citrulline phosphorylase,
UMLS_CUI:C0268542,
GARD:8391

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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