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Rigid spine syndrome
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Classic multiminicore myopathy
Congenital fiber-type disproportion myopathy
Desmin-related myopathy with Mallory body-like inclusions
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C535683
Gene symbol UniProt reference OMIM reference
SEPN1 Q9NZV5606210
No signs/symptoms info available.