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DO Term : Scott syndrome [DOID:0111052] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:4777,
  • bleeding abnormality due to deficiency of platelet biding of factor X,
  • SNOMEDCT_US_2023_03_01:128098009,
  • prothrombin consumption deficiency,
  • SCTS,
  • OMIM:262890,
  • UMLS_CUI:C0796149,
  • BDPLT7,
  • ORDO:806,
  • 262890,
  • MESH:C563120,
  • platelet-type bleeding disorder 7,
  • familial prothrombin consumption inhibitor,
  • familial prothrombin conversion defect
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents