Cytoscape Web
Click node...

Intermediate osteopetrosis
1 OMIM reference -
2 associated genes
5 connected diseases
No signs/symptoms info
Disease Type of connection
Albers-Schönberg osteopetrosis
Autosomal recessive malignant osteopetrosis
Infantile osteopetrosis with neuroaxonal dysplasia
Glycogen storage disease due to LAMP-2 deficiency
Intellectual deficit - craniofacial dysmorphism - cryptorchidism
Synonym(s):
- Autosomal recessive intermediate osteopetrosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CLCN7 P51798602727
PLEKHM1 Q9Y4G2611466
No signs/symptoms info available.