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Poikiloderma with neutropenia
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Dyskeratosis congenita
Synonym(s):
- Poikiloderma with neutropenia, Clericuzio type
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
USB1 Q9BQ65613276
No signs/symptoms info available.