Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	hereditary disorder of connective tissue
Synonyms	hereditary connective tissue disorder Mendelian connective tissue disorder connective tissue hereditary disorder Hereditary Connective Tissue Disorder inherited disorder of connective tissue Inherited disorder of connective tissue
Definitions	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
ID	http://purl.obolibrary.org/obo/MONDO_0023603
has_exact_synonym	hereditary connective tissue disorder Mendelian connective tissue disorder connective tissue hereditary disorder
has_related_synonym	Hereditary Connective Tissue Disorder inherited disorder of connective tissue Inherited disorder of connective tissue
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/3606
label	hereditary disorder of connective tissue
prefixIRI	MONDO:0023603
prefLabel	hereditary disorder of connective tissue
textual definition	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0003900 http://purl.obolibrary.org/obo/MONDO_0003847

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0023603	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0023603	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0023603	OBA	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0023603	GCBO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0023603	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0023603	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0023603	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0023603	OBA	LOOM
http://purl.obolibrary.org/obo/MONDO_0023603	GCBO	LOOM