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Hereditary thrombocytosis with transverse limb defect
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Familial thrombocytosis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Synonym(s):
- Familial thrombocytosis with transverse limb defect
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
THPO P40225600044
No signs/symptoms info available.