Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	factor XII deficiency
Synonyms	Factor XII deficiency disease
Definitions	A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_2231
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	GARD:6558 ORDO:330 SNOMEDCT_US_2022_09_01:46981006 OMIM:234000 UMLS_CUI:C0015526 MESH:D005175 NCI:C131740
definition	A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33.
has exact synonym	Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:2231
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	factor XII deficiency
notation	DOID:2231
prefLabel	factor XII deficiency
subClassOf	http://purl.obolibrary.org/obo/DOID_1247 http://purl.obolibrary.org/obo/DOID_0050737

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/234000	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/D005175	Medical Subject Headings	LOOM