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ONTOLOGY REPORT - ANNOTATIONS


Term:osteopetrosis
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Accession:DOID:13533 term browser browse the term
Definition:Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).
Synonyms:exact_synonym: Albers Schoenberg Disease;   Albers Schonberg Disease;   Albers Schönberg Disease;   Congenital Osteopetrosis;   Marble Bone Disease;   Marble Bones, Autosomal Dominant;   Osteopetroses;   Osteosclerosis Fragilis;   marble bone;   osteosclerosis fragilis generalisata
 narrow_synonym: Albers Schonberg disease, autosomal dominant;   High Bone Mass
 primary_id: MESH:D010022
 alt_id: RDO:0001226
 xref: GARD:4155;   NCI:C26840;   OMIM:PS259700;   OMIM:PS607634;   ORDO:667
For additional species annotation, visit the Alliance of Genome Resources.


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osteopetrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:1600698
G Cebpa CCAAT/enhancer binding protein alpha JBrowse link 1 91,363,492 91,366,164 RGD:10401187
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 RGD:737783
RGD:11554173
RGD:8554872
G Csf1 colony stimulating factor 1 JBrowse link 2 210,522,370 210,550,546 RGD:628338
RGD:13592920
G Csf1tl colony stimulating factor 1; tooth less mutant RGD:628338
G Ctsk cathepsin K JBrowse link 2 196,655,469 196,666,447 RGD:734856
G Fermt3 fermitin family member 3 JBrowse link 1 222,254,183 222,272,775 RGD:11554173
G Fosl1 FOS like 1, AP-1 transcription factor subunit JBrowse link 1 220,826,560 220,835,066 RGD:737712
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:2307374
G Jun Jun proto-oncogene, AP-1 transcription factor subunit JBrowse link 5 114,011,184 114,014,277 RGD:1549450
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Lrrk1 leucine-rich repeat kinase 1 JBrowse link 1 127,166,866 127,301,053 RGD:13592920
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:13592920
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Ostm1 osteoclastogenesis associated transmembrane protein 1 JBrowse link 20 47,394,979 47,430,304 RGD:8554872
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:8554872
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:8554872
G Tnfsf11 TNF superfamily member 11 JBrowse link 15 60,482,527 60,512,704 RGD:11554173
RGD:8554872
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872
autosomal dominant osteopetrosis 2 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
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhm1 pleckstrin homology and RUN domain containing M1 JBrowse link 10 91,451,890 91,500,675 RGD:8554872
RGD:7240710
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
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
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872
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
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ostm1 osteoclastogenesis associated transmembrane protein 1 JBrowse link 20 47,394,979 47,430,304 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhm1 pleckstrin homology and RUN domain containing M1 JBrowse link 10 91,451,890 91,500,675 RGD:7240710
RGD:8554872
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:7240710
RGD:8554872
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
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
Worth's syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 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
              Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema 2
              Autosomal Dominant Osteopetrosis 3 1
              COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
              Osteopetrosis Lethal 0
              Osteopetrosis and Infantile Neuroaxonal Dystrophy 0
              Roy Maroteaux Kremp Syndrome 0
              Whyte Murphy Fallon Sly syndrome 0
              Worth's syndrome 1
              autosomal dominant osteopetrosis 1 1
              autosomal dominant osteopetrosis 2 1
              autosomal recessive osteopetrosis 1 2
              autosomal recessive osteopetrosis 2 1
              autosomal recessive osteopetrosis 3 1
              autosomal recessive osteopetrosis 4 1
              autosomal recessive osteopetrosis 5 1
              autosomal recessive osteopetrosis 6 1
              autosomal recessive osteopetrosis 7 1
              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
                    Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema 2
                    Autosomal Dominant Osteopetrosis 3 1
                    COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                    Osteopetrosis Lethal 0
                    Osteopetrosis and Infantile Neuroaxonal Dystrophy 0
                    Roy Maroteaux Kremp Syndrome 0
                    Whyte Murphy Fallon Sly syndrome 0
                    Worth's syndrome 1
                    autosomal dominant osteopetrosis 1 1
                    autosomal dominant osteopetrosis 2 1
                    autosomal recessive osteopetrosis 1 2
                    autosomal recessive osteopetrosis 2 1
                    autosomal recessive osteopetrosis 3 1
                    autosomal recessive osteopetrosis 4 1
                    autosomal recessive osteopetrosis 5 1
                    autosomal recessive osteopetrosis 6 1
                    autosomal recessive osteopetrosis 7 1
                    autosomal recessive osteopetrosis 8 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.