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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive osteopetrosis 2
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Accession:DOID:0110943 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. (DO)
Synonyms:exact_synonym: Mild autosomal recessive form of osteopetrosis;   OPTB2;   OSTEOPETROSIS, OSTEOCLAST-POOR;   mild autosomal recessive form osteopetrosis
 primary_id: MESH:C536059;   OMIM:259710
 alt_id: RDO:0001476;   RDO:0008434
 xref: GARD:4157
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive osteopetrosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfsf11 TNF superfamily member 11 JBrowse link 15 60,482,527 60,512,704 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      bone development disease 981
        osteochondrodysplasia 406
          osteosclerosis 44
            osteopetrosis 27
              autosomal recessive osteopetrosis 2 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        connective tissue disease 2763
          bone disease 2212
            bone development disease 981
              osteochondrodysplasia 406
                osteosclerosis 44
                  osteopetrosis 27
                    autosomal recessive osteopetrosis 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.