Bleeding disorder, platelet-type, 24

Preferred Label : Bleeding disorder, platelet-type, 24;

Symbol : BDPLT24;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glanzmann thrombasthenia-like with macrothrombocytopenia 2;

Prefixed ID : #619271;

Détails

Origin ID

619271;

UMLS CUI

C5543280;

Genes related to phenotype
- Integrin, beta-3 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal dominant inheritance [HPO term]
- Impaired ADP-induced platelet aggregation [HPO term]
- Impaired arachidonic acid-induced platelet aggregation [HPO term]
- Impaired collagen-induced platelet aggregation [HPO term]
- Impaired epinephrine-induced platelet aggregation [HPO term]
- Increased mean platelet volume [HPO term]
- Menorrhagia [HPO term]
- Platelet anisocytosis [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Impaired ristocetin-induced platelet aggregation [HPO term]
ORDO concept(s)
- Autosomal dominant macrothrombocytopenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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