protein C deficiency

Term ID

DOID:3756

Synonyms

Definition

A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. https://pubmed.ncbi.nlm.nih.gov/10942114/

References

GARD:4521
ICD10CM:D68.59
MESH:D020151
NCI:C99025
ORDO:745
SNOMEDCT_US_2023_03_01:76407009
UMLS_CUI:C0398625

Ontology

Human Disease ( DOID:3756 )

Relationships

is a type of: autosomal dominant disease thrombophilia

autosomal dominant disease thrombophilia Show first 5 Terms
has subtype: autosomal dominant thrombophilia due to protein C deficiency autosomal recessive thrombophilia due to protein C deficiency

autosomal dominant thrombophilia due to protein C deficiency autosomal recessive thrombophilia due to protein C deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations