Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	autosomal dominant intermediate Charcot-Marie-Tooth disease
Synonyms	intermediate Charcot-Marie-Tooth disease, autosomal dominant CMTDI autosomal dominant intermediate Charcot-Marie-Tooth disease autosomal dominant intermediate Charcot-Marie-Tooth
Definitions	Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.
ID	http://purl.obolibrary.org/obo/MONDO_0019548
has_exact_synonym	intermediate Charcot-Marie-Tooth disease, autosomal dominant CMTDI autosomal dominant intermediate Charcot-Marie-Tooth disease
has_related_synonym	autosomal dominant intermediate Charcot-Marie-Tooth
label	autosomal dominant intermediate Charcot-Marie-Tooth disease
prefixIRI	MONDO:0019548
prefLabel	autosomal dominant intermediate Charcot-Marie-Tooth disease
textual definition	Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0018778

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019548	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019548	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019548	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019548	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019548	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019548	KTAO	LOOM
http://www.orpha.net/ORDO/Orphanet_90114	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11977	HRDO	LOOM