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
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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

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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 4 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 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.