Search Ontology:
Human Disease

autosomal recessive osteopetrosis 5

Term ID
DOID:0110939
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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