OBO ID: DOID:0110943
Term Name: autosomal recessive osteopetrosis 2 Search Ontology:
Synonyms:
  • mild autosomal recessive form osteopetrosis
  • OPTB2
  • osteoclast-poor osteopetrosis
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. https://www.ncbi.nlm.nih.gov/pubmed/17632511
References:
Ontology: Human Disease   ( DOID:0110943 )
OTHER autosomal recessive osteopetrosis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TNFSF11 Osteopetrosis, autosomal recessive 2 259710
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None