BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

mitochondrial DNA depletion syndrome

Synonyms

mtDNA depletion syndrome

Definitions

A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.

ID

http://purl.obolibrary.org/obo/DOID_0070329

database_cross_reference

ORDO:35698

OMIM:PS603041

GARD:13643

has exact synonym

mtDNA depletion syndrome

id

DOID:0070329

label

mitochondrial DNA depletion syndrome

notation

DOID:0070329

prefLabel

mitochondrial DNA depletion syndrome

textual definition

A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018158 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0018158 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_0070329 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0070329 Human Disease Ontology / 人类疾病本体 SAME_URI
http://www.orpha.net/ORDO/Orphanet_35698 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM