JSON

inborn mitochondrial metabolism disorder

Go to external page http://purl.obolibrary.org/obo/MONDO_0004069

Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. [ MESH:D028361 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:700 (MONDO:equivalentTo)
  • MESH:D028361 (Orphanet:68380)
  • GARD:0007048 (MONDO:equivalentTo)
  • Orphanet:68380 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_group_of_disorders

closeMatch

http://linkedlifedata.com/resource/umls/id/CN552492

http://identifiers.org/snomedct/240096000

conformsTo

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

definition

Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0751651

http://www.orpha.net/ORDO/Orphanet_68380

http://purl.obolibrary.org/obo/DOID_700

http://identifiers.org/mesh/D028361

has exact synonym

mitochondrial disease

has related synonym

mitochondrial genetic disorders

mitochondrial metabolism disease

id

MONDO:0004069

seeAlso

https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders