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Metadata
ID DOID:0111902
Name thrombophilia due to activated protein C resistance
Definition A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.
https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia, https://pubmed.ncbi.nlm.nih.gov/8164741/, https://pubmed.ncbi.nlm.nih.gov/8430067/, https://pubmed.ncbi.nlm.nih.gov/9454742/
Xrefs

MESH:C566056

OMIM:188055

UMLS_CUI:C1861171

Synonyms

activated protein C resistance [EXACT]

APC resistance [EXACT]

PCCF deficiency [EXACT]

PROC cofactor deficiency [EXACT]

THPH2 [EXACT]

thrombophilia due to deficiency of activated protein C cofactor [EXACT]

thrombophilia V [EXACT]

Parent Relationships

is_a thrombophilia

is_a autosomal dominant disease

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