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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive osteopetrosis 5
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Accession:DOID:0110939 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: OPTB5;   Osteopetrosis, Infantile Malignant 3
 primary_id: MESH:C566883
 alt_id: OMIM:259720;   RDO:0015099
 xref: GARD:4153
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive osteopetrosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ostm1 osteoclastogenesis associated transmembrane protein 1 JBrowse link 20 47,394,979 47,430,304 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      bone development disease 1252
        osteochondrodysplasia 425
          osteosclerosis 43
            osteopetrosis 26
              autosomal recessive osteopetrosis 5 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      musculoskeletal system disease 5527
        connective tissue disease 3992
          bone disease 3455
            bone development disease 1252
              osteochondrodysplasia 425
                osteosclerosis 43
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.