Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	protein C deficiency
Definitions	A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
ID	http://purl.obolibrary.org/obo/DOID_3756
database_cross_reference	UMLS_CUI:C0398625 GARD:4521 SNOMEDCT_US_2022_09_01:76407009 MESH:D020151 ICD10CM:D68.59 NCI:C99025 ORDO:745
definition	A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:3756
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	protein C deficiency
notation	DOID:3756
prefLabel	protein C deficiency
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_2452

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D020151	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/MTHU038924	Online Mendelian Inheritance in Man	LOOM