Thrombocytopenia 6

Preferred Label : Thrombocytopenia 6;

Symbol : THC6;

CISMeF acronym : THC6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, autosomal dominant, 6;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the V-SRC avian sarcoma (Schmidt-Ruppin A-2) viral oncogene gene (SRC, 190090.0002);

Prefixed ID : #616937;

Details

Origin ID

616937;

UMLS CUI

C4310789;

Automatic exact mappings (from CISMeF team)
- Hereditary thrombocytopenia with early-onset myelofibrosis [ORDO Disease]
- SRC wt Allele [NCIt concept]
Genes related to phenotype
- Src protooncogene, nonreceptor tyrosine kinase [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypercellularity [HPO term]
- Deeply set eye [HPO term]
- Hypotelorism [HPO term]
- Large forehead [HPO term]
- Myelofibrosis [HPO term]
- Osteoporosis [HPO term]
- Spontaneous, recurrent epistaxis [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Hereditary thrombocytopenia with early-onset myelofibrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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