THBD wt Allele

Preferred Label : THBD wt Allele;

NCIt synonyms : THRM; BDCA3; TM; Thrombomodulin wt Allele; THPH12; AHUS6; CD141;

NCIt definition : Human THBD wild-type allele is located in the vicinity of 20p11.2 and is approximately 4 kb in length. This allele, which encodes thrombomodulin protein, is involved in the regulation of both blood coagulation and thrombolysis. Mutation of the gene is associated with both thrombophilia and hemolytic uremic syndrome atypical type 6.;

GenBank Accession Number : NM_000361;

Details

Origin ID

C101379;

UMLS CUI

C3540468;

Automatic exact mappings (from CISMeF team)
- Academic Dissertations as Topic [MeSH Descriptor]
- Decreased level of thrombomodulin [HPO term]
- Disorder of tympanic membrane, unspecified [ICD-11 More detail]
- Hemolytic uremic syndrome, atypical, susceptibility to, 6 [OMIM Phenotype]
- Thrombomodulin [OMIM gene]
- Thrombophilia due to thrombomodulin defect [OMIM Phenotype]
- disease transmission, infectious [MeSH Descriptor]
- thrombomodulin [ORDO Gene]
- thrombophilia due to thrombomodulin defect [DO Concept]
- tuberomammillary nucleus [UBERON concept]
OMIM relation
- Thrombomodulin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20p11.2 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
gene_plays_role_in_process
- Cellular Migration Process [NCIt concept]
- Coagulation Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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