Platelet glycoprotein iv deficiency

Preferred Label : Platelet glycoprotein iv deficiency;

CISMeF acronym : BDPLT10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bleeding disorder, platelet-type, 10; BDPLT10; Cd36 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD36 antigen gene (CD36, 173510.0001);

Prefixed ID : #608404;

Détails

Origin ID

608404;

UMLS CUI

C1842090;

Automatic exact mappings (from CISMeF team)
- CD36 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- platelet glycoprotein IV deficiency [MeSH concept]
- platelet glycoprotein IV deficiency [MeSH Supplementary Concept]
- platelet-type bleeding disorder 10 [DO Concept]
DO Cross reference
- platelet-type bleeding disorder 10 [DO Concept]
Genes related to phenotype
- Cd36 antigen [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormality of the endocrine system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Giant platelets [HPO term]
- Prolonged bleeding time [HPO term]
- Prolonged bleeding time 15-to->30 minutes [HPO term]
- Thrombocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- platelet glycoprotein IV deficiency [MeSH Supplementary Concept]
- platelet glycoprotein IV deficiency [MeSH concept]

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

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