Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:osteosclerosis
go back to main search page
Accession:DOID:4254 term browser browse the term
Definition:An abnormal hardening or increased density of bone tissue.
Synonyms:exact_synonym: Osteoscleroses
 primary_id: MESH:D010026;   RDO:0000281
 xref: NCI:C41236
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
osteosclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:11554173
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
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 Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:734571
RGD:8554872
RGD:7240710
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 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 Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872
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
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1r colony stimulating factor 1 receptor JBrowse link 18 56,414,493 56,458,300 RGD:8554872
RGD:7240710
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585749
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:7240710
RGD:8554872
RGD:11553844
RGD:11553843
RGD:11553842
RGD:11553840
Camurati-Engelmann disease 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:13592920
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:7240710
RGD:8554872
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 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
Craniodiaphyseal Dysplasia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:7240710
RGD:8554872
craniometaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankh ANKH inorganic pyrophosphate transport regulator JBrowse link 2 80,131,563 80,256,948 RGD:8554872
RGD:13592920
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:13592920
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:13592920
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:13592920
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k7 mitogen activated protein kinase kinase kinase 7 JBrowse link 5 47,183,142 47,244,424 RGD:8554872
RGD:11554173
Hyperostosis Cranialis Interna term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a14 solute carrier family 39 member 14 JBrowse link 15 51,982,872 52,029,841 RGD:8554872
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872
osteopathia striata with cranial sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amer1 APC membrane recruitment protein 1 JBrowse link X 64,686,620 64,702,504 RGD:7240710
RGD:8554872
RGD:11554173
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
Osteopoikilosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrk1 leucine-rich repeat kinase 1 JBrowse link 1 127,166,866 127,301,053 RGD:8554872
Raine Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20c FAM20C, golgi associated secretory pathway kinase JBrowse link 12 17,913,771 17,972,733 RGD:7240710
RGD:8554872
RGD:11560486
Schwartz-Lelek Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8662399
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 15590
    Developmental Diseases 8723
      bone development disease 980
        osteochondrodysplasia 406
          osteosclerosis 44
            Axial Osteosclerosis 0
            Camurati-Engelmann disease + 2
            Cerebellar Hypoplasia with Endosteal Sclerosis 1
            Craniofacial Dysostosis with Diaphyseal Hyperplasia 0
            Distal Osteosclerosis 0
            Dysosteosclerosis + 1
            Forney Robinson Pascoe Syndrome 1
            Hyperostosis Cranialis Interna 1
            Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions 0
            Mixed Sclerosing Bone Dystrophy 0
            OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA 1
            Osteopoikilosis + 2
            Osteosclerosis with Ichthyosis and Fractures 0
            Pyknoachondrogenesis 0
            Raine Syndrome 1
            Whyte Murphy Syndrome 0
            axial osteomalacia 0
            craniodiaphyseal dysplasia + 1
            craniometaphyseal dysplasia + 6
            melorheostosis + 1
            osteopathia striata with cranial sclerosis 1
            osteopetrosis + 27
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              osteochondrodysplasia 406
                osteosclerosis 44
                  Axial Osteosclerosis 0
                  Camurati-Engelmann disease + 2
                  Cerebellar Hypoplasia with Endosteal Sclerosis 1
                  Craniofacial Dysostosis with Diaphyseal Hyperplasia 0
                  Distal Osteosclerosis 0
                  Dysosteosclerosis + 1
                  Forney Robinson Pascoe Syndrome 1
                  Hyperostosis Cranialis Interna 1
                  Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions 0
                  Mixed Sclerosing Bone Dystrophy 0
                  OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA 1
                  Osteopoikilosis + 2
                  Osteosclerosis with Ichthyosis and Fractures 0
                  Pyknoachondrogenesis 0
                  Raine Syndrome 1
                  Whyte Murphy Syndrome 0
                  axial osteomalacia 0
                  craniodiaphyseal dysplasia + 1
                  craniometaphyseal dysplasia + 6
                  melorheostosis + 1
                  osteopathia striata with cranial sclerosis 1
                  osteopetrosis + 27
paths to the root

NHLBI Logo

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