OBO ID: DOID:0110939
Term Name: autosomal recessive osteopetrosis 5 Search Ontology:
Synonyms:
  • infantile malignant osteopetrosis 3
  • OPTB5
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/12627228
References:
Ontology: Human Disease   (DOID:0110939)
OTHER autosomal recessive osteopetrosis 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OSTM1 Osteopetrosis, autosomal recessive 5 259720
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None