OBO ID: DOID:0111047
Term Name: platelet-type bleeding disorder 14 Search Ontology:
Synonyms:
  • BDPLT14
  • thromboxane synthase deficiency
Definition: A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. https://www.ncbi.nlm.nih.gov/pubmed/6268139
References:
Ontology: Human Disease   ( DOID:0111047 )
Relationships
is a type of:
OTHER platelet-type bleeding disorder 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
116814566 Bleeding disorder, platelet-type, 14
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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