JSON

hereditary disorder of connective tissue

^ http://purl.obolibrary.org/obo/MONDO_0023603

An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. [ NCIT:C97075 ]

Term info

database cross reference
  • UMLS:C0410787 (MONDO:equivalentTo)
  • SCTID:363045008 (UMLS:C0410787)
  • NCIT:C97075 (UMLS:C0410787)
IAO 0000233

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

definition

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0410787, http://identifiers.org/snomedct/363045008, http://purl.obolibrary.org/obo/NCIT_C97075

has exact synonym

Mendelian connective tissue disorder, hereditary connective tissue disorder, connective tissue hereditary disorder

has related synonym

Hereditary Connective Tissue Disorder, inherited disorder of connective tissue, Inherited disorder of connective tissue

id

MONDO:0023603