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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;   RDO:0000457
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Osteolysis term browser
Symbol Object Name 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 chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Ibsp integrin-binding sialoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr14:6,801,200...6,813,987
Ensembl chr14:6,801,204...6,813,945
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO OMIM:277950, Winchester syndrome RGD PMID:16542393 RGD:1601416 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO associated with Prostatic Neoplasms RGD PMID:15894268 RGD:9685352 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407340 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878362 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: therapeutic CTD PMID:12548581 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18606716 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
Acro-Osteolysis term browser
Symbol Object Name 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 chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070, PMID:17152860 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
familial expansile osteolysis term browser
Symbol Object Name 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 OMIM:174810
OMIM
ClinVar
PMID:7911698, PMID:10615125, PMID:12362049, PMID:12568416, PMID:17447113, PMID:25741868 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
Hajdu-Cheney syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome
ClinVar Annotator: match by OMIM:102500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8723560, PMID:8755249, PMID:17159511, PMID:21378985, PMID:21378989, PMID:21712856, PMID:22891273, PMID:22891276, PMID:24728327, PMID:25741868, PMID:27312922, PMID:28492532 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome
ClinVar Annotator: match by OMIM:245010
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1886537, PMID:10581027, PMID:10593994, PMID:10662807, PMID:11180012, PMID:11180601, PMID:11886537, PMID:12112662, PMID:14974080, PMID:18809751, PMID:18945301, PMID:23311634, PMID:24033266, PMID:24936511, PMID:25741868, PMID:28242153, PMID:28492532, PMID:29410039 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name 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 dysplasia with type A lipodystrophy
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical
ClinVar Annotator: match by term: Mandibuloacral dysostosis
ClinVar Annotator: match by term: CRANIOMANDIBULAR DERMATODYSOSTOSIS
DNA:missense mutation:cds:p.R527H (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:248370
OMIM
ClinVar
CTD
PMID:10080180, PMID:10612827, PMID:10655060, PMID:10999845, PMID:11503164, PMID:12075506, PMID:12628721, PMID:12629077, PMID:12768443, PMID:12784312, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14615128, PMID:14627682, PMID:14749366, PMID:15140538, PMID:15205219, PMID:15286156, PMID:15475483, PMID:15998779, PMID:16174718, PMID:16278265, PMID:16440304, PMID:16772334, PMID:16809772, PMID:17250669, PMID:17274801, PMID:17377071, PMID:17848409, PMID:17935239, PMID:18348272, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18604166, PMID:18795223, PMID:18796515, PMID:18926329, PMID:19084400, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19875404, PMID:20848652, PMID:20980393, PMID:21520333, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22918509, PMID:23183350, PMID:23328570, PMID:23497705, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24623722, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25982065, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27199538, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:28874324, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:29943882, PMID:30137533, PMID:30165862, PMID:30311386, PMID:30420677, PMID:30901896, PMID:16046620 RGD:12791023 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy
ClinVar Annotator: match by term: Multicentric osteolysis nephropathy
ClinVar Annotator: match by OMIM:166300
OMIM
ClinVar
PMID:20436469, PMID:22387013, PMID:24989131, PMID:25741868, PMID:28492532 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name 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
ClinVar Annotator: match by OMIM:614008
OMIM
ClinVar
PMID:21549337, PMID:23720404, PMID:28492532 NCBI chr 1:220,744,195...220,746,224
Ensembl chr 1:220,744,195...220,746,224
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chr 1:220,746,387...220,751,687
Ensembl chr 1:220,746,387...220,751,684
JBrowse link
Osteolysis Hereditary Multicentric term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy ClinVar NCBI chr19:15,470,177...15,540,704
Ensembl chr19:15,469,303...15,540,773
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders
ClinVar Annotator: match by OMIM:259600
OMIM
ClinVar
CTD
PMID:2625626, PMID:6525336, PMID:10356396, PMID:11431697, PMID:15691365, PMID:16458924, PMID:16542393, PMID:17059372, PMID:17400654, PMID:19019335, PMID:20617897, PMID:20673868, PMID:21421877, PMID:23313298, PMID:23378725, PMID:25600631, PMID:25704319, PMID:25741868, PMID:27182040, PMID:28492532 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name 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:23720404, PMID:23731537, PMID:23731542, PMID:25158255, PMID:25741868, PMID:26279204, PMID:26455322, PMID:28183292, PMID:28334876, PMID:28492532, PMID:30311386 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name 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 ClinVar
OMIM
PMID:17103436, PMID:23637089, PMID:30449416 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789
JBrowse link
Winchester syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM
PMID:4238825, PMID:22922033, PMID:25741868 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        bone disease 3528
          bone resorption disease 353
            Osteolysis 23
              Acro-Osteolysis + 8
              Dermatoosteolysis Kirghizian Type 0
              Gorham's disease + 0
              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 1
              familial expansile osteolysis 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone remodeling disease 428
              bone resorption disease 353
                Osteolysis 23
                  Acro-Osteolysis + 8
                  Dermatoosteolysis Kirghizian Type 0
                  Gorham's disease + 0
                  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 1
                  familial expansile osteolysis 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.