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Metadata
ID DOID:0111052
Name Scott syndrome
Definition An inherited blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.
https://www.ncbi.nlm.nih.gov/pubmed/12669124, https://www.ncbi.nlm.nih.gov/pubmed/21107324
Xrefs

GARD:4777

MESH:C563120

OMIM:262890

ORDO:806

UMLS_CUI:C0796149

Synonyms

BDPLT7 [EXACT]

bleeding abnormality due to deficiency of platelet biding of factor X [EXACT]

familial prothrombin consumption inhibitor [EXACT]

familial prothrombin conversion defect [EXACT]

platelet-type bleeding disorder 7 [EXACT]

prothrombin consumption deficiency [EXACT]

SCTS [EXACT]

Parent Relationships

is_a inherited blood coagulation disease

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