Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ANTITHROMBIN III DEFICIENCY
Synonyms	AT3D
ID	http://purl.bioontology.org/ontology/OMIM/613118
altLabel	AT3D THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY THPH7
cui	C0272375
Gene Locus	1q23-q25
Gene Symbol	AT3D SERPINC1 AT3 THPH7
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001757 http://purl.bioontology.org/ontology/OMIM/MTHU019523 http://purl.bioontology.org/ontology/OMIM/MTHU026780 http://purl.bioontology.org/ontology/OMIM/MTHU019519 http://purl.bioontology.org/ontology/OMIM/MTHU019521 http://purl.bioontology.org/ontology/OMIM/MTHU026781 http://purl.bioontology.org/ontology/OMIM/MTHU019520 http://purl.bioontology.org/ontology/OMIM/MTHU019526 http://purl.bioontology.org/ontology/OMIM/MTHU019524 http://purl.bioontology.org/ontology/OMIM/MTHU019522 http://purl.bioontology.org/ontology/OMIM/MTHU037124
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613118
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ANTITHROMBIN III DEFICIENCY
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/D68.59	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98815	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/MESH/D020152	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D020152	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_3755	Human Disease Ontology 123	LOOM