Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

inborn mitochondrial metabolism disorder

Synonyms

mitochondrial genetic disorders

mitochondrial metabolism disease

mitochondrial disease

Definitions

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.

ID

http://purl.obolibrary.org/obo/MONDO_0004069

database_cross_reference

MESH:D028361

Orphanet:68380

NANDO:2100163

NANDO:1200173

DOID:700

GARD:18887

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://identifiers.org/mesh/D028361

http://purl.obolibrary.org/obo/Orphanet_68380

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

has_broad_synonym

mitochondrial disease

has_related_synonym

mitochondrial genetic disorders

mitochondrial metabolism disease

id

MONDO:0004069

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

inborn mitochondrial metabolism disorder

notation

MONDO:0004069

preferred label

inborn mitochondrial metabolism disorder

prefLabel

inborn mitochondrial metabolism disorder

see also

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019243

http://purl.obolibrary.org/obo/MONDO_0015327

http://purl.obolibrary.org/obo/MONDO_0019052

http://purl.obolibrary.org/obo/MONDO_0044970

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