OBO ID: DOID:0110938
Term Name: autosomal dominant osteopetrosis 2 Search Ontology:
Synonyms:
  • Albers-Schonberg osteopetrosis
  • autosomal dominant Albers-Schonberg disease
  • autosomal dominant osteopetrosis type II
  • OPTA2
  • osteopetrosis autosomal dominant type 2
Definition: An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. (2)
References:
Ontology: Human Disease   ( DOID:0110938 )
OTHER autosomal dominant osteopetrosis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLCN7 Osteopetrosis, autosomal dominant 2 166600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None