Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Thrombophilia, hereditary

Synonyms
ID

http://purl.bioontology.org/ontology/MESH/C540694

cui

C2584620

HM

D019851

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D019851

MDA

20100825

MeSH Frequency

378

MMR

20150818

notation

C540694

prefLabel

Thrombophilia, hereditary

SC

3

Scope Statement

Thrombophilia due to congenital factors. Germline mutations in the F5 gene have been identified for Protein C/Factor V Leiden (OMIM: 188055), in the HRG gene for histidine-rich glycoprotein deficiency (OMIM: 613116); PROC gene for PROTEIN C DEFICIENCY (OMIM: 176860); and the PROS1 gene for PROTEIN S DEFICIENCY (OMIM: 612336)

TERMUI

T751419

TH

ORD (2010)

tui

T047

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