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DO Term : nuclear type mitochondrial complex I deficiency 1 [DOID:0112074] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2.

synonyms:
MC1DN1,
OMIM:252010,
252010

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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