Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Hereditary Connective Tissue Disorder
Synonyms
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/NCIT_C97075
code	C97075
Contributing_Source	NICHD
definition	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
in_subset	http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C99147
label	Hereditary Connective Tissue Disorder
Preferred_Name	Hereditary Connective Tissue Disorder
prefixIRI	NCIT:C97075
prefLabel	Hereditary Connective Tissue Disorder
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0410787
subClassOf	http://purl.obolibrary.org/obo/NCIT_C26729

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0023603	KTAO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Connective_Tissue_Disorder	CSEO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97075	NCIT	LOOM