OBO ID: DOID:0110945
Term Name: autosomal recessive osteopetrosis 6 Search Ontology:
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 autosomal recessive osteopetrosis 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLEKHM1 ?Osteopetrosis, autosomal recessive 6 611497
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None