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
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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

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Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      bone development disease 891
        osteochondrodysplasia 403
          osteosclerosis 42
            osteopetrosis 26
              autosomal recessive osteopetrosis 6 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 6 1
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