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Human Disease

autosomal recessive osteopetrosis 2

Term ID
DOID:0110943
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 )
Relationships
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Other Pages
Genes Involved
Zebrafish Models