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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive osteopetrosis 8
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Accession:DOID:0110940 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: OPTB8
 primary_id: OMIM:615085
 alt_id: RDO:9000625
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive osteopetrosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snx10 sorting nexin 10 JBrowse link 4 81,311,490 81,375,248 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 8 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 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.