ZFIN Human Disease: combined oxidative phosphorylation deficiency 19

OBO ID: DOID:0111476

Term Name:	combined oxidative phosphorylation deficiency 19		Search Ontology:
Synonyms:	COXPD19 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. https://www.ncbi.nlm.nih.gov/pubmed/23814038
References:	OMIM:615595 ORDO:397593
Ontology:	Human Disease ( DOID:0111476 )

Relationships

is a type of:	autosomal recessive disease combined oxidative phosphorylation deficiency autosomal recessive disease combined oxidative phosphorylation deficiency Show first 5 Terms

OTHER combined oxidative phosphorylation deficiency 19 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LYRM4	lyrm4	?Combined oxidative phosphorylation deficiency 19	615595

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None