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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive osteopetrosis 4
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Accession:DOID:0110944 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 CLCN7 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: OPTB4;   Osteopetrosis, Infantile Malignant 2
 primary_id: MESH:C566933
 alt_id: OMIM:611490;   RDO:0009529;   RDO:0015141
 xref: GARD:5993
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive osteopetrosis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 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 4 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 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.