Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

hereditary disorder of connective tissue
Synonyms

Hereditary Connective Tissue Disorder

inherited disorder of connective tissue

Inherited disorder of connective tissue

Mendelian connective tissue disorder

hereditary connective tissue disorder

connective tissue hereditary disorder

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

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

exactMatch

http://purl.obolibrary.org/obo/NCIT_C97075

http://identifiers.org/snomedct/363045008

http://linkedlifedata.com/resource/umls/id/C0410787

hasDbXref

UMLS:C0410787

NCIT:C97075

SCTID:363045008

hasExactSynonym

Mendelian connective tissue disorder

hereditary connective tissue disorder

connective tissue hereditary disorder

hasRelatedSynonym

Hereditary Connective Tissue Disorder

inherited disorder of connective tissue

Inherited disorder of connective tissue

IAO_0000115

An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/3606

id

MONDO:0023603

label

hereditary disorder of connective tissue

notation

MONDO:0023603

prefLabel

hereditary disorder of connective tissue

subClassOf

http://purl.obolibrary.org/obo/MONDO_0003900

http://purl.obolibrary.org/obo/MONDO_0003847

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