combined oxidative phosphorylation defect type 11

Go to external page http://purl.obolibrary.org/obo/MONDO_0013969


Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_disease

abbreviation
COXPD11 [ Orphanet:324535 MONDO:Lexical https://omim.org/entry/614922 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0111481

http://www.orpha.net/ORDO/Orphanet_324535

http://linkedlifedata.com/resource/umls/id/C3554067

http://identifiers.org/omim/614922

has exact synonym

combined oxidative phosphorylation deficiency type 11

RMND1 combined oxidative phosphorylation deficiency

COXPD11

combined oxidative phosphorylation deficiency caused by mutation in RMND1

has related synonym

Encephaloneuromyopathy, infantile, due to mitochondrial translation defect

combined oxidative phosphorylation deficiency 11

id

MONDO:0013969