Mondo Disease Ontology - hereditary disorder of connective tissue - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: May 9, 2024

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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
database_cross_reference	NCIT:C97075 SCTID:363045008 UMLS:C0410787
definition	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
exactMatch	http://purl.obolibrary.org/obo/NCIT_C97075 http://identifiers.org/snomedct/363045008 http://linkedlifedata.com/resource/umls/id/C0410787
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
id	MONDO:0023603
in_subset	http://purl.obolibrary.org/obo/mondo#otar
label	hereditary disorder of connective tissue
notation	MONDO:0023603
prefLabel	hereditary disorder of connective tissue
treeView	http://purl.obolibrary.org/obo/MONDO_0003900 http://purl.obolibrary.org/obo/MONDO_0003847
subClassOf	http://purl.obolibrary.org/obo/MONDO_0003900 http://purl.obolibrary.org/obo/MONDO_0003847

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