Bleeding disorder, platelet-type, 22

Preferred Label : Bleeding disorder, platelet-type, 22;

Symbol : BDPLT22;

CISMeF acronym : BDPLT22;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ephrin receptor EphB2 gene (EPHB2, 600997.0005);

Prefixed ID : #618462;

Details

Origin ID

618462;

UMLS CUI

C5193111;

Genes related to phenotype
- Ephrin receptor ephb2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Excessive bleeding from superficial cuts [HPO term]
- Impaired platelet aggregation [HPO term]
- Subcutaneous hemorrhage [HPO term]
Not associated HPO term(s)
- Abnormal platelet count [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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