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mitochondrial proton-transporting ATP synthase complex deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0014471

A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). [ Orphanet:254913 ]

Synonyms: mitochondrial complex V (ATP synthase) deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1655626 (MONDO:equivalentTo)
  • icd11.foundation:902255625 (https://orcid.org/0000-0001-5208-3432)
  • GARD:18649 (MONDO:GARD)
  • OMIMPS:604273 (MONDO:equivalentTo)
  • DOID:0111143 (MONDO:equivalentTo)
  • Orphanet:254913 (OMIM:616045)
  • UMLS:C4757950 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

comment

Consider splitting out nuclear type for OMIMPS

exactMatch

http://identifiers.org/medgen/1655626

http://purl.obolibrary.org/obo/DOID_0111143

http://linkedlifedata.com/resource/umls/id/C4757950

http://www.orpha.net/ORDO/Orphanet_254913

https://omim.org/phenotypicSeries/PS604273

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016805

has narrow synonym

isolated mitochondrial respiratory chain complex V deficiency

isolated ATP synthase deficiency

id

MONDO:0014471

Term relations