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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   ICD10CM:Q78.2;   ICD9CM:756.52;   NCI:C26840;   OMIM:PS259700;   OMIM:PS607634;   ORDO:667
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
osteopetrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 susceptibility ISO DNA:splice-site mutation RGD PMID:1301935 RGD:1600698 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO RGD PMID:23580622 RGD:10401187 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteopetrosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28492532, PMID:11207362 RGD:737783 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
G Csf1 colony stimulating factor 1 IAGP
ISS
DNA:insertion:cds (rat) MouseDO PMID:12379742 RGD:628338 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Csf1tl colony stimulating factor 1; tooth less mutant IAGP RGD PMID:12379742 RGD:628338
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
JBrowse link
G Fermt3 fermitin family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO RGD PMID:10655067 RGD:737712 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Ghr growth hormone receptor IEP protein:decreased expression:osteoclast RGD PMID:14632687 RGD:2307374 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15314684 RGD:1549450 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: High bone mass ClinVar PMID:11741193, PMID:12015390 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISS MouseDO NCBI chr 1:127,166,866...127,301,053
Ensembl chr 1:127,166,431...127,292,090
JBrowse link
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
JBrowse link
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar NCBI chr20:47,394,979...47,430,304
Ensembl chr20:47,395,014...47,430,284
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:10888887, PMID:10942435, PMID:11532986, PMID:15300850, PMID:19448635, PMID:23721911, PMID:24033266, PMID:24535484, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30431110, PMID:30898715, PMID:31567691, PMID:31949762 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteopetrosis
CTD
ClinVar
PMID:17632511 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1
ClinVar Annotator: match by OMIM:607634
OMIM
ClinVar
PMID:10434540, PMID:11741193, PMID:12015390, PMID:12579474, PMID:25741868, PMID:28492532 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteopetrosis autosomal dominant type 2 OMIM
ClinVar
PMID:1516225, PMID:11468688, PMID:11741829, PMID:23296056, PMID:25741868 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 ClinVar
OMIM
PMID:17997709 NCBI chr10:91,451,890...91,500,675
Ensembl chr10:91,451,865...91,500,661
JBrowse link
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc154 coiled-coil domain containing 154 ISS OMIM:259700 MouseDO NCBI chr10:14,518,240...14,529,920
Ensembl chr10:14,519,164...14,528,277
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO DNA:deletions, snps:exons:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 1
ClinVar Annotator: match by OMIM:259700
ClinVar
OMIM
PMID:9506970, PMID:10888887, PMID:10942435, PMID:11532986, PMID:12507890, PMID:12552563, PMID:12566520, PMID:14675409, PMID:15300850, PMID:18715141, PMID:19448635, PMID:19507210, PMID:20424301, PMID:21042819, PMID:22231430, PMID:23412864, PMID:23721911, PMID:24033266, PMID:24101165, PMID:24535484, PMID:24753205, PMID:24989235, PMID:25018813, PMID:25326635, PMID:25525159, PMID:25741868, PMID:25829125, PMID:26264438, PMID:26777052, PMID:27229898, PMID:28492532, PMID:28604959, PMID:30311386, PMID:30431110, PMID:30539151, PMID:31949762, PMID:10888887 RGD:1599350 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfsf11 TNF superfamily member 11 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2
ClinVar Annotator: match by OMIM:259710
OMIM
ClinVar
PMID:17632511, PMID:20499338, PMID:21541994, PMID:28492532 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935, PMID:1542674, PMID:1928091, PMID:4624444, PMID:5041390, PMID:7627193, PMID:8127074, PMID:8128957, PMID:8834238, PMID:12566520, PMID:18060825, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 4
ClinVar Annotator: match by OMIM:611490
OMIM
ClinVar
PMID:1516225, PMID:11207362, PMID:11468688, PMID:11741829, PMID:17033731, PMID:23296056, PMID:25741868, PMID:199553639 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 5
ClinVar Annotator: match by OMIM:259720
OMIM
ClinVar
PMID:12627228, PMID:16813530, PMID:28492532, PMID:28612835 NCBI chr20:47,394,979...47,430,304
Ensembl chr20:47,395,014...47,430,284
JBrowse link
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by OMIM:611497 OMIM
ClinVar
PMID:17404618 NCBI chr10:91,451,890...91,500,675
Ensembl chr10:91,451,865...91,500,661
JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7
ClinVar Annotator: match by OMIM:612301
OMIM
ClinVar
PMID:15231021, PMID:18606301, PMID:19940926, PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx10 sorting nexin 10 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 8
ClinVar Annotator: match by OMIM:615085
OMIM
ClinVar
PMID:22499339, PMID:23123320, PMID:25741868 NCBI chr 4:81,311,490...81,375,248
Ensembl chr 4:81,311,490...81,374,158
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM
PMID:27889061 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
OMIM
ClinVar
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
Worth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Worth disease
ClinVar Annotator: match by OMIM:607636
OMIM
ClinVar
PMID:10434540, PMID:12015390, PMID:12579474 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      bone development disease 1343
        osteochondrodysplasia 446
          osteosclerosis 44
            osteopetrosis 26
              Autosomal Dominant Osteopetrosis 3 1
              COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
              Ectodermal Dysplasia and Immunodeficiency 1 2
              Osteopetrosis Lethal 0
              Osteopetrosis and Infantile Neuroaxonal Dystrophy 0
              Roy Maroteaux Kremp Syndrome 0
              Whyte Murphy Fallon Sly syndrome 0
              Worth 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 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              osteochondrodysplasia 446
                osteosclerosis 44
                  osteopetrosis 26
                    Autosomal Dominant Osteopetrosis 3 1
                    COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                    Ectodermal Dysplasia and Immunodeficiency 1 2
                    Osteopetrosis Lethal 0
                    Osteopetrosis and Infantile Neuroaxonal Dystrophy 0
                    Roy Maroteaux Kremp Syndrome 0
                    Whyte Murphy Fallon Sly syndrome 0
                    Worth 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.