Glanzmann thrombasthenia 2

Preferred Label : Glanzmann thrombasthenia 2;

Symbol : GT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bleeding disorder, platelet-type, 23; BDPLT23;

Prefixed ID : #619267;

Détails

Origin ID

619267;

UMLS CUI

C5543273;

Genes related to phenotype
- Integrin, beta-3 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Decreased platelet glycoprotein IIb-IIIa [HPO term]
- Epistaxis [HPO term]
- Impaired ADP-induced platelet aggregation [HPO term]
- Impaired clot retraction [HPO term]
- Impaired collagen-induced platelet aggregation [HPO term]
- Impaired epinephrine-induced platelet aggregation [HPO term]
- Impaired ristocetin-induced platelet aggregation [HPO term]
- Menorrhagia [HPO term]
- Neonatal onset [HPO term]
- Prolonged bleeding after dental extraction [HPO term]
- Prolonged bleeding after surgery [HPO term]
- Prolonged bleeding time [HPO term]
ORDO concept(s)
- Glanzmann thrombasthenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Glanzmann thrombasthenia [ORDO Disease]

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

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