Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT
Synonyms

THPH12
ID

http://purl.bioontology.org/ontology/OMIM/614486
altLabel

THPH12
cui

C3280976
Gene Locus

20p11.2
Gene Symbol

THPH12

AHUS6

THRM

THBD
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

614486
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111908 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C566057 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566057 Medical Subject Headings LOOM