Search Ontology:
Human Disease

autosomal recessive osteopetrosis 8

Term ID
DOID:0110940
Synonyms
  • OPTB8
Definition
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. https://www.ncbi.nlm.nih.gov/pubmed/22499339
References
Ontology
Human Disease   ( DOID:0110940 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models