Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

ANTITHROMBIN III DEFICIENCY
Synonyms

THPH7
ID

http://purl.bioontology.org/ontology/OMIM/613118
altLabel

THPH7

AT3D

THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
cui

C0272375
Gene Locus

1q23-q25
Gene Symbol

THPH7

SERPINC1

AT3

AT3D
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037124

http://purl.bioontology.org/ontology/OMIM/MTHU019522

http://purl.bioontology.org/ontology/OMIM/MTHU019520

http://purl.bioontology.org/ontology/OMIM/MTHU019519

http://purl.bioontology.org/ontology/OMIM/MTHU019526

http://purl.bioontology.org/ontology/OMIM/MTHU026780

http://purl.bioontology.org/ontology/OMIM/MTHU019524

http://purl.bioontology.org/ontology/OMIM/MTHU001757

http://purl.bioontology.org/ontology/OMIM/MTHU019521

http://purl.bioontology.org/ontology/OMIM/MTHU019523
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

613118
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ANTITHROMBIN III DEFICIENCY
Scope Statement

Caused by mutation in the antithrombin III gene (AT3, 107300.0001) [MOLECULAR BASIS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10002832 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10083881 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004008 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10083881 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10002832 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D020152 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D020152 MESH CUI
http://purl.bioontology.org/ontology/RCD/X20Ek RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/D68.59 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/36351005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10083881 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/36351005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10002832 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DC-65230 SNMI CUI
http://purl.obolibrary.org/obo/DOID_3755 DOID LOOM
rgo:17948 GAMUTS LOOM
rgo:17948 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_3755 DOID LOOM
http://purl.obolibrary.org/obo/OMIT_0020076 OMIT LOOM
http://identifiers.org/omim/613118 REXO LOOM
http://identifiers.org/omim/613118 GEXO LOOM
http://identifiers.org/omim/613118 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.075 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_3755 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3755 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3755 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3755 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037388 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906016893594752 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0272375 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/D020152 MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C98815 BERO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/36351005 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.075 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.925.075 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.147.150 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000641 DERMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Antithrombin_III_Deficiency CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020152 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Antithrombin_III_Deficiency PEDTERM LOOM
http://www.gamuts.net/entity#antithrombin_III_deficiency GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#26716 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98815 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_613118 CCO LOOM
http://www.limics.fr/ontologies/ontolurgences#CarenceEnAntithrombineIII ONTOLURGENCES LOOM
http://pat.nichd.nih.gov/maternalconditions/C0272375 PATMHC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3755 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10002832 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNMI/DC-65230 SNMI LOOM