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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive osteopetrosis 7
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Accession:DOID:0110946 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: OPTB7;   autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia;   autosomal recessive osteopetrosis type 7;   osteoclast-poor osteopetrosis with hypogammaglobulinemia;   osteopetrosis-hypogammaglobulinemia syndrome
 primary_id: MESH:C567354
 alt_id: OMIM:612301;   RDO:0015445
 xref: GARD:10106;   ORDO:178389
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autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      primary immunodeficiency disease 957
        agammaglobulinemia 55
          autosomal recessive osteopetrosis 7 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        connective tissue disease 2790
          bone disease 2242
            bone development disease 1001
              osteochondrodysplasia 410
                osteosclerosis 44
                  osteopetrosis 27
                    autosomal recessive osteopetrosis 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.