| Metadata | |
|---|---|
| ID | DOID:0111052 |
| Name | Scott syndrome |
| Definition | A 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 |
SNOMEDCT_US_2023_03_01:128098009 |
| Subsets |
DO_rare_slim |
| 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 |