ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive osteopetrosis 1
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Accession:DOID:0110942 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 TCIRG1 gene on chromosome 11q13.2. (DO)
Synonyms:exact_synonym: Albers-Schonberg Disease, Autosomal Recessive;   Marble Bones, Autosomal Recessive;   OPTB1;   Osteopetrosis, Infantile Malignant 1
 primary_id: MESH:C564915
 alt_id: OMIM:259700;   RDO:0013715
 xref: GARD:2579
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autosomal recessive osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc154 coiled-coil domain containing 154 JBrowse link 10 14,518,240 14,529,920 RGD:13592920
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:1599350
RGD:8554872
RGD:7240710

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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 1 2
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 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.