Cell Culture Ontology

Last uploaded: July 23, 2014
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

database_cross_reference

UMLS:C0410787

NCIT:C97075

SCTID:363045008

MEDGEN:473110

definition

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

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

IAO_0000233

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

id

MONDO:0023603

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

label

hereditary disorder of connective tissue

notation

MONDO:0023603

preferred label

hereditary disorder of connective tissue

prefLabel

hereditary disorder of connective tissue

skos_exactMatch

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

http://identifiers.org/medgen/473110

http://identifiers.org/snomedct/363045008

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

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://www.ebi.ac.uk/efo/EFO_1001986

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