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DO Term : combined oxidative phosphorylation deficiency 1 [DOID:0111474] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.

synonyms:
MESH:C563797,
early fatal progressive hepatoencephalopathy,
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,
NCI:C125663,
ORDO:137681,
COXPD1,
hepatoencephalopathy due to COXPD1,
OMIM:609060,
609060,
UMLS_CUI:C1836797

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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