Search Ontology:
Human Disease

autosomal recessive osteopetrosis 6

Term ID
DOID:0110945
Synonyms
  • autosomal recessive osteopetrosis intermediate form
  • OPTB6
Definition
An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. https://www.ncbi.nlm.nih.gov/pubmed/17404618
References
Ontology
Human Disease   ( DOID:0110945 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models