OBO ID: DOID:0060692
Term Name: platelet-type bleeding disorder 8 Search Ontology:
Synonyms:
  • ADP platelet receptor P2Y12 defect
  • P2Y12 defect
Definition: A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (2)
References:
Ontology: Human Disease   ( DOID:0060692 )
OTHER platelet-type bleeding disorder 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
P2RY12 Bleeding disorder, platelet-type, 8 609821
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None