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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
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      bone development disease 1001
        osteochondrodysplasia 410
          osteosclerosis 44
            osteopetrosis 27
              autosomal recessive osteopetrosis 1 2
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              osteochondrodysplasia 410
                osteosclerosis 44
                  osteopetrosis 27
                    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.