Bleeding disorder, platelet-type, 21

Preferred Label : Bleeding disorder, platelet-type, 21;

Symbol : BDPLT21;

CISMeF acronym : BDPLT21;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive (1 family);

Molecular basis : Caused by mutation in the friend leukemia virus integration 1 gene (FLI1, 193067.0001);

Prefixed ID : #617443;

Details

Origin ID

617443;

UMLS CUI

C4479515;

Genes related to phenotype
- Fli1 protooncogene, ets transcription factor [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Eczema [HPO term]
- Impaired platelet aggregation [HPO term]
- Menorrhagia [HPO term]
- Psoriasiform dermatitis [HPO term]
- Recurrent viral infections [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Paris-Trousseau thrombocytopenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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