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Metadata
ID DOID:0111907
Name thrombophilia due to thrombin defect
Definition A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
https://pubmed.ncbi.nlm.nih.gov/11570053/, https://pubmed.ncbi.nlm.nih.gov/22716977/
Xrefs

GARD:10815

OMIM:188050

UMLS_CUI:C3160733

Synonyms

prothrombin-related thrombophilia [EXACT]

THPH1 [EXACT]

thrombophilia due to factor 2 defect [EXACT]

Parent Relationships

is_a thrombophilia

is_a autosomal dominant disease

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