Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	mitochondrial complex IV deficiency, nuclear type 1
Synonyms
ID	http://purl.obolibrary.org/obo/MONDO_0700250
database_cross_reference	DOID:0070491 GARD:15158 UMLS:C5435656 MEDGEN:1750917 OMIM:220110
id	MONDO:0700250
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare
label	mitochondrial complex IV deficiency, nuclear type 1
notation	MONDO:0700250
prefLabel	mitochondrial complex IV deficiency, nuclear type 1
skos_exactMatch	http://purl.obolibrary.org/obo/DOID_0070491 https://omim.org/entry/220110 http://identifiers.org/medgen/1750917 http://linkedlifedata.com/resource/umls/id/C5435656
terms_creator	https://orcid.org/0000-0002-4142-7153
treeView	http://purl.obolibrary.org/obo/MONDO_0033885
subClassOf	http://purl.obolibrary.org/obo/MONDO_0033885

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0070491	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0070491	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0070491	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0070491	NIFSTD	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176895	NCIT	LOOM
http://purl.bioontology.org/ontology/OMIM/220110	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C176895	BERO	LOOM