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ONTOLOGY REPORT - ANNOTATIONS
Term:autosomal recessive osteopetrosis 6
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Accession:DOID:0110945 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: OPTB6;   Osteopetrosis, Autosomal Recessive, Intermediate Form
 primary_id: MESH:C566931
 alt_id: OMIM:611497;   RDO:0015139
 xref: GARD:4156
For additional species annotation, visit the Alliance of Genome Resources.

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autosomal recessive osteopetrosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhm1 pleckstrin homology and RUN domain containing M1 JBrowse link 10 91,451,890 91,500,675 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          osteosclerosis 44
            osteopetrosis 27
              autosomal recessive osteopetrosis 6 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteosclerosis 44
                  osteopetrosis 27
                    autosomal recessive osteopetrosis 6 1
paths to the root

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