Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

THROMBOMODULIN

Synonyms

VARIANT OF UNKNOWN SIGNIFICANCE

ID

http://purl.bioontology.org/ontology/OMIM/188040

altLabel

VARIANT OF UNKNOWN SIGNIFICANCE

THRM

CD141

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6

CD141 ANTIGEN

THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT

THBD

cui

C4015968

C1420720

C3280976

C2752036

C2986382

Gene Locus

20p11.2

Gene Symbol

THPH12

AHUS6

THRM

THBD

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/188040.0001

http://purl.bioontology.org/ontology/OMIM/188040.0006

http://purl.bioontology.org/ontology/OMIM/188040.0005

http://purl.bioontology.org/ontology/OMIM/188040.0007

http://purl.bioontology.org/ontology/OMIM/188040.0010

http://purl.bioontology.org/ontology/OMIM/188040.0002

http://purl.bioontology.org/ontology/OMIM/188040.0003

http://purl.bioontology.org/ontology/OMIM/188040.0004

http://purl.bioontology.org/ontology/OMIM/188040.0008

http://purl.bioontology.org/ontology/OMIM/188040.0009

MIMTYPEMEANING

Gene with known sequence

notation

188040

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

THROMBOMODULIN

tui

T028

T033

T086

T047

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http://purl.bioontology.org/ontology/LNC/MTHU021644 Logical Observation Identifier Names and Codes LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101380 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D018180 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/PR_000002105 International Classification of Diseases Ontology LOOM
http://purl.obolibrary.org/obo/PR_000002105 Cell Ontology LOOM
http://purl.obolibrary.org/obo/PR_000002105 Protein Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C566057 Medical Subject Headings CUI