Bleeding disorder, platelet-type, 11

Preferred Label : Bleeding disorder, platelet-type, 11;

Symbol : BDPLT11;

CISMeF acronym : BDPLT11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glycoprotein VI deficiency; Gp VI deficiency;

Description : Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the platelet glycoprotein VI gene (GP6, 605546.0001);

Prefixed ID : #614201;

Details

Origin ID

614201;

UMLS CUI

C3280120;

Currated CISMeF NLP mapping
- Bleeding diathesis due to glycoprotein VI deficiency [ORDO Disease]
- Bleeding disorder due to glycoprotein VI deficiency (disorder) [SNOMED CT concept]
- platelet-type bleeding disorder 11 [DO Concept]
DO Cross reference
- platelet-type bleeding disorder 11 [DO Concept]
Genes related to phenotype
- Glycoprotein VI, platelet [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Infantile onset [HPO term]
- Menorrhagia [HPO term]
- Prolonged bleeding time [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Abnormal platelet morphology [HPO term]
ORDO concept(s)
- Bleeding diathesis due to a collagen receptor defect [ORDO Disease]
- Bleeding diathesis due to glycoprotein VI deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bleeding diathesis due to glycoprotein VI deficiency [ORDO Disease]
- Bleeding disorder due to glycoprotein VI deficiency (disorder) [SNOMED CT concept]
- platelet-type bleeding disorder 11 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients