Bleeding disorder, platelet-type, 8

Preferred Label : Bleeding disorder, platelet-type, 8;

Symbol : BDPLT8;

CISMeF acronym : BDPLT8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bleeding disorder due to p2ry12 defect;

Description : Platelet-type bleeding disorder due to P2RY12 defects is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by Cattaneo, 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the purinergic receptor P2Y, G protein-coupled, 12 gene (P2RY12, 600515.0001);

Prefixed ID : #609821;

Details

Origin ID

609821;

UMLS CUI

C1853278;

CISMeF manual mappings
- bleeding disorder due to P2RY12 defect [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Bleeding disorder due to P2Y12 defect [ORDO Disease]
- Defect of purinergic receptor p2y G protein-coupled 12 (disorder) [SNOMED CT concept]
- bleeding disorder due to P2RY12 defect [MeSH concept]
- platelet-type bleeding disorder 8 [DO Concept]
DO Cross reference
- platelet-type bleeding disorder 8 [DO Concept]
Genes related to phenotype
- Purinergic receptor p2y, g protein-coupled, 12 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Impaired ADP-induced platelet aggregation [HPO term]
- Persistent bleeding after trauma [HPO term]
- Prolonged bleeding after surgery [HPO term]
ORDO concept(s)
- Bleeding disorder due to P2Y12 defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bleeding disorder due to P2Y12 defect [ORDO Disease]
- bleeding disorder due to P2RY12 defect [MeSH Supplementary Concept]
- bleeding disorder due to P2RY12 defect [MeSH concept]
- platelet-type bleeding disorder 8 [DO Concept]

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