platelet-type bleeding disorder 8

Summary

DOID:0060692 - platelet-type bleeding disorder 8

Disease Ontology 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.

Synonyms: ADP platelet receptor P2Y12 defect, P2Y12 defect

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: p2ry12, p2rx1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012354 - acropodium region

MONDO:0012354 - acropodium region

MIM:

MIM:609821 - BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8

MIM:609821 - BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), blood platelet disease (is_a)