Human Disease Ontology

Last uploaded: June 28, 2024
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Preferred Name

protein C deficiency
Synonyms
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

SNOMEDCT_US_2023_03_01:76407009

UMLS_CUI:C0398625

MESH:D020151

ICD10CM:D68.59

GARD:4521

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#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

protein C deficiency
notation

DOID:3756
prefLabel

protein C deficiency
subClassOf

http://purl.obolibrary.org/obo/DOID_2452

http://purl.obolibrary.org/obo/DOID_0050736
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http://purl.obolibrary.org/obo/DOID_3756 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3756 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3756 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3756 FNS-H SAME_URI
http://www.ebi.ac.uk/efo/EFO_0009316 EFO LOOM
rgo:05966 GAMUTS LOOM
rgo:05966 GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_2200689 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2100197 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1201080 NANDO LOOM
http://purl.obolibrary.org/obo/OMIT_0020075 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU038924 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020151 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X20El RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051298 MEDDRA LOOM
http://id.nlm.nih.gov/mesh/D020151 MDM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037390 PMAPP-PMO LOOM
http://www.gamuts.net/entity#protein_C_deficiency GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.690 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Protein_C_Deficiency CSEO LOOM
http://localhost/plosthes.2017-1#3386 PLOSTHES LOOM
http://purl.bioontology.org/ontology/MESH/D020151 MESH LOOM
http://purl.obolibrary.org/obo/DOID_3756 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3756 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3756 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3756 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.147.880 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.690 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/D30B.00 RCTV2 LOOM
http://purl.jp/bio/4/id/200906078185062010 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#32392 OCHV LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3756 NATPRO LOOM
http://purl.obolibrary.org/obo/DERMO_0000639 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.925.795 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0398625 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15057 DERMLEX LOOM