Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

hereditary connective tissue disorder

Synonyms

inherited disorder of connective tissue

hereditary connective tissue disorder

Connective tissue hereditary disorder

Hereditary Connective Tissue Disorder

connective tissue hereditary disorder

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

UMLS:C0410787

SCTID:363045008

definition

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

exactMatch

http://identifiers.org/snomedct/363045008

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

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

has_exact_synonym

hereditary connective tissue disorder

connective tissue hereditary disorder

has_related_synonym

inherited disorder of connective tissue

Connective tissue hereditary disorder

Hereditary Connective Tissue Disorder

Inherited disorder of connective tissue

id

MONDO:0023603

label

hereditary connective tissue disorder

notation

MONDO:0023603

prefLabel

hereditary connective tissue disorder

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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97075 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Connective_Tissue_Disorder CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0023603 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0023603 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0023603 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0023603 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0023603 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0023603 EFO SAME_URI