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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:Osteolysis
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Accession:DOID:9006081 term browser browse the term
Definition:Dissolution of bone that particularly involves the removal or loss of calcium.
Synonyms:exact_synonym: Osteolyses
 primary_id: MESH:D010014


show annotations for term's descendants           Sort by:
Osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071 		JBrowse link
G IBSP integrin binding sialoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr32:11,187,188...11,200,860
Ensembl chr32:11,187,160...11,200,846 		JBrowse link
G IL29L interleukin 29-like ameliorates ISO associated with Inflammation; human protein in a mouse model RGD PMID:32488049 RGD:126848774 NCBI chr24:36,440,445...36,441,017
Ensembl chr24:36,440,445...36,441,017 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO OMIM:277950, Winchester syndrome RGD PMID:16542393 RGD:1601416 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO associated with Prostatic Neoplasms RGD PMID:15894268 RGD:9685352 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr27:19,781,557...19,795,078
Ensembl chr27:19,781,557...19,795,078 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878362 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:12548581 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606716 NCBI chr22:8,226,931...8,257,926
Ensembl chr22:8,227,555...8,258,645 		JBrowse link
Acro-Osteolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 ISO associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) RGD PMID:15990641 RGD:12880041 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 PMID:17152860 NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160 		JBrowse link
Acroosteolysis Dominant Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Acroosteolysis dominant type ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:28566479 PMID:28776642 More... NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
familial expansile osteolysis 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: Familial expansile osteolysis | ClinVar Annotator: match by term: Mccabe disease OMIM
ClinVar		 PMID:7911698 PMID:10615125 PMID:12362049 PMID:12568416 PMID:17447113 More... NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041 		JBrowse link
Gorham's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Gorham-Stout disease ClinVar PMID:25741868 NCBI chr10:7,775,995...7,833,895
Ensembl chr10:7,777,946...7,834,107 		JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,505,463...56,529,441
Ensembl chr17:56,505,506...56,528,954 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		JBrowse link
G LOC100682600 disintegrin and metalloproteinase domain-containing protein 30 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,768,324...56,772,594 JBrowse link
G LOC480786 regenerating islet-derived protein 4 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,728,398...56,772,734 JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME OMIM
ClinVar		 PMID:8723560 PMID:8755249 PMID:9536098 PMID:16199547 PMID:16773578 More... NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,806,912...56,833,765 JBrowse link
G TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,079,739...56,190,417
Ensembl chr17:56,081,411...56,204,192 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,229,175...56,322,688
Ensembl chr17:56,229,769...56,322,638 		JBrowse link
G ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,573,771...56,604,278
Ensembl chr17:56,576,916...56,578,898
Ensembl chr17:56,576,916...56,578,898 		JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816 		JBrowse link
G GRM5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr21:10,980,186...11,496,539
Ensembl chr21:10,996,075...11,493,290 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
mandibuloacral dysplasia type A lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy OMIM
ClinVar		 PMID:20436469 PMID:22387013 PMID:24989131 PMID:25741868 PMID:28492532 More... NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948 		JBrowse link
Nestor-Guillermo progeria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome OMIM
ClinVar		 PMID:21549337 PMID:23720404 PMID:28492532 NCBI chr18:51,269,817...51,271,484
Ensembl chr18:51,269,815...51,271,690 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr18:51,271,850...51,276,215
Ensembl chr18:51,272,855...51,274,487 		JBrowse link
Osteolysis Hereditary Multicentric term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPCAT2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Osteolysis, hereditary multicentric ClinVar NCBI chr 2:60,401,317...60,469,177
Ensembl chr 2:60,388,557...60,469,199 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric OMIM
ClinVar		 PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type OMIM
ClinVar		 PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-cinotti syndrome OMIM
ClinVar		 PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275 		JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPCAT2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr 2:60,401,317...60,469,177
Ensembl chr 2:60,388,557...60,469,199 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome OMIM
ClinVar		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      musculoskeletal system disease 7740
        bone disease 3825
          bone resorption disease 185
            Osteolysis 36
              Acro-Osteolysis + 19
              Dermatoosteolysis Kirghizian Type 0
              Gorham's disease + 1
              Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
              Nestor-Guillermo progeria syndrome 2
              Osebold Skeletal Dysplasia Osteolysis Syndrome 0
              Osteolysis Hereditary Multicentric + 3
              Osteolysis Syndrome, Recessive 0
              Polyosteolysis-Hyperostosis Syndrome 0
              Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 0
              Winchester syndrome 3
              familial expansile osteolysis 1
              periprosthetic osteolysis 0
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      musculoskeletal system disease 7740
        connective tissue disease 5278
          bone disease 3825
            bone remodeling disease 294
              bone resorption disease 185
                Osteolysis 36
                  Acro-Osteolysis + 19
                  Dermatoosteolysis Kirghizian Type 0
                  Gorham's disease + 1
                  Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 0
                  Nestor-Guillermo progeria syndrome 2
                  Osebold Skeletal Dysplasia Osteolysis Syndrome 0
                  Osteolysis Hereditary Multicentric + 3
                  Osteolysis Syndrome, Recessive 0
                  Polyosteolysis-Hyperostosis Syndrome 0
                  Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 0
                  Winchester syndrome 3
                  familial expansile osteolysis 1
                  periprosthetic osteolysis 0
paths to the root