WormMine: DiseaseOntology DOID:0111052 Scott syndrome 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.

1 Ontology

• Name: Disease Ontology

5 Parents

Identifier	Name	Description
DOID:7	disease of anatomical entity	A disease that manifests in a defined anatomical structure.
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:74	hematopoietic system disease	A disease of anatomical entity that has_material_basis_in hematopoietic cells.
DOID:1247	blood coagulation disease	A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
DOID:0111052	Scott syndrome	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.

4 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:1247	DOID:0111052
is_a	DOID:74	DOID:0111052
is_a	DOID:4	DOID:0111052
is_a	DOID:7	DOID:0111052

7 Synonyms

• Name: BDPLT7
• Type: synonym

• Name: bleeding abnormality due to deficiency of platelet biding of factor X
• Type: synonym

• Name: familial prothrombin consumption inhibitor
• Type: synonym

• Name: familial prothrombin conversion defect
• Type: synonym

• Name: platelet-type bleeding disorder 7
• Type: synonym

• Name: prothrombin consumption deficiency
• Type: synonym

• Name: SCTS
• Type: synonym