Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

PROTEIN C
Synonyms

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
ID

http://purl.bioontology.org/ontology/OMIM/612283
altLabel

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT

PROC

PC

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
cui

C2676759

C2674321

C1418943
Gene Locus

2q13-q14
Gene Symbol

THPH4

PC

THPH3

PROC
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/612283.0007

http://purl.bioontology.org/ontology/OMIM/612283.0001

http://purl.bioontology.org/ontology/OMIM/612283.0009

http://purl.bioontology.org/ontology/OMIM/612283.0008

http://purl.bioontology.org/ontology/OMIM/612283.0004

http://purl.bioontology.org/ontology/OMIM/612283.0006

http://purl.bioontology.org/ontology/OMIM/612283.0005

http://purl.bioontology.org/ontology/OMIM/612283.0003

http://purl.bioontology.org/ontology/OMIM/612283.0002

http://purl.bioontology.org/ontology/OMIM/612283.0023

http://purl.bioontology.org/ontology/OMIM/612283.0021

http://purl.bioontology.org/ontology/OMIM/612283.0022

http://purl.bioontology.org/ontology/OMIM/612283.0020

http://purl.bioontology.org/ontology/OMIM/612283.0025

http://purl.bioontology.org/ontology/OMIM/612283.0024

http://purl.bioontology.org/ontology/OMIM/612283.0013

http://purl.bioontology.org/ontology/OMIM/612283.0017

http://purl.bioontology.org/ontology/OMIM/612283.0011

http://purl.bioontology.org/ontology/OMIM/612283.0018

http://purl.bioontology.org/ontology/OMIM/612283.0012

http://purl.bioontology.org/ontology/OMIM/612283.0019

http://purl.bioontology.org/ontology/OMIM/612283.0014

http://purl.bioontology.org/ontology/OMIM/612283.0010

http://purl.bioontology.org/ontology/OMIM/612283.0015

http://purl.bioontology.org/ontology/OMIM/612283.0016
MIMTYPEMEANING

Gene with known sequence
notation

612283
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

PROTEIN C
tui

T047

T028
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567353 MESH CUI
http://purl.bioontology.org/ontology/MESH/C567163 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP411714-1 LOINC CUI
http://www.phoc.org.cn/pmo/class/PMO_00019279 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/CSP/0437-7588 CRISP LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021552 LOINC LOOM
http://purl.bioontology.org/ontology/MESH/D011486 MESH LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571347974240596063 ACVD_ONTOLOGY LOOM
http://purl.jp/bio/4/id/200906016830123407 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0033621 OCHV LOOM
http://id.nlm.nih.gov/mesh/D011486 MDM LOOM
http://purl.obolibrary.org/obo/OMIT_0012432 OMIT LOOM
http://purl.obolibrary.org/obo/HINO_0005743 HINO LOOM
http://purl.bioontology.org/ontology/NDDF/007733 NDDF LOOM
https://go.drugbank.com/drugs/DB11312 MDM LOOM
http://purl.obolibrary.org/obo/CHEBI_82131 PDRO LOOM
http://purl.obolibrary.org/obo/CHEBI_82131 CHEBI LOOM
http://purl.obolibrary.org/obo/CHEBI_82131 BERO LOOM
http://purl.obolibrary.org/obo/CHEBI_82131 DRON LOOM
http://purl.bioontology.org/ontology/RCD/X80WE RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.395.635 RH-MESH LOOM
http://purl.obolibrary.org/obo/MESH_D011486 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10050416 MEDDRA LOOM
http://purl.bioontology.org/ontology/LNC/LP16485-2 LOINC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/25525005 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011486 RH-MESH LOOM
http://purl.obolibrary.org/obo/HINO_0008514 HINO LOOM
http://purl.bioontology.org/ontology/LNC/LA19694-1 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.622.705 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D23.113.700 RH-MESH LOOM
http://www.semanticweb.org/ontologies/STO.owl#df45_307c_4de5_9e8f_087eeddac10a STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#df45_307c_4de5_9e8f_087eeddac10a CVAO LOOM
http://purl.obolibrary.org/obo/NCIT_C87607 BERO LOOM
http://purl.bioontology.org/ontology/RXNORM/8834 RXNORM LOOM
http://purl.bioontology.org/ontology/ATC/B01AD12 ATC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.124.650 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#ProteinC GALEN LOOM