ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 21

OBO ID: DOID:0112088

Term Name:	nuclear type mitochondrial complex I deficiency 21		Search Ontology:
Synonyms:	MC1DN21
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. https://pubmed.ncbi.nlm.nih.gov/20818383/
References:	OMIM:618242
Ontology:	Human Disease ( DOID:0112088 )

Relationships

is a type of:	autosomal recessive disease nuclear type mitochondrial complex I deficiency autosomal recessive disease nuclear type mitochondrial complex I deficiency Show first 5 Terms

OTHER nuclear type mitochondrial complex I deficiency 21 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NUBPL	nubpl	Mitochondrial complex I deficiency, nuclear type 21	618242

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None