Thrombocytopenia 3

Preferred Label : Thrombocytopenia 3;

Symbol : THC3;

CISMeF acronym : THC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, autosomal recessive, 3;

Description : For a phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FYN-binding protein gene (FYB, 602731.0001);

Prefixed ID : #273900;

Détails

Origin ID

273900;

UMLS CUI

C2678311;

Automatic exact mappings (from CISMeF team)
- Autosomal thrombocytopenia with normal platelets [ORDO Disease]
Currated CISMeF NLP mapping
- thrombocytopenia 3 [MeSH concept]
- thrombocytopenia 3 [MeSH Supplementary Concept]
DO Cross reference
- thrombocytopenia [DO Concept]
Genes related to phenotype
- Fyn-binding protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased mean platelet volume [HPO term]
- Epistaxis [HPO term]
- Petechiae [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Abnormal megakaryocyte morphology [HPO term]
ORDO concept(s)
- Autosomal thrombocytopenia with normal platelets [ORDO Disease]
- Hereditary thrombocytopenia with normal platelets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- thrombocytopenia 3 [MeSH Supplementary Concept]
- thrombocytopenia 3 [MeSH concept]

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

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