Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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

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http://purl.bioontology.org/ontology/MESH/D020151 Medical Subject Headings / 医学主题词表 LOOM
http://www.ebi.ac.uk/efo/EFO_0009316 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU038924 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/DOID_3756 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_3756 BioAssay Ontology / 生物活性分析本体 SAME_URI