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Familial expansile osteolysis
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Osteopetrosis - hypogammaglobulinemia
Autosomal dominant hypohidrotic ectodermal dysplasia
Herpetic encephalitis
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Autosomal recessive malignant osteopetrosis
Familial isolated dilated cardiomyopathy
Congenital enteropathy due to enteropeptidase deficiency
Synonym(s):
- Hereditary expansile polyostotic osteolytic dysplasia
- McCabe's disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536335
Gene symbol UniProt reference OMIM reference
TNFRSF11A Q9Y6Q6603499
No signs/symptoms info available.