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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:Fibrous Dysplasia of Bone
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Accession:DOID:9008267 term browser browse the term
Definition:A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).
Synonyms:exact_synonym: Bone Fibrous Dysplasia;   Bone Fibrous Dysplasias;   Osteitis Fibrosa Disseminata
 primary_id: MESH:D005357


show annotations for term's descendants           Sort by:
Fibrous Dysplasia of Bone term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOS Fos proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:7739708 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230 		JBrowse link
G TRIM37 tripartite motif containing 37 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076 		JBrowse link
G ATP5ME ATP synthase membrane subunit e IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:672,436...674,276
Ensembl chr 4:672,436...674,330 		JBrowse link
G CPLX1 complexin 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DGKQ diacylglycerol kinase theta IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:958,887...973,569
Ensembl chr 4:958,887...986,895 		JBrowse link
G DOK7 docking protein 7 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G FAM193A family with sequence similarity 193 member A IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,535,375...2,732,573
Ensembl chr 4:2,536,647...2,732,573 		JBrowse link
G FAM53A family with sequence similarity 53 member A IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,574,062...1,686,017
Ensembl chr 4:1,617,915...1,684,313 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G GAK cyclin G associated kinase IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:849,277...932,316
Ensembl chr 4:849,276...932,373 		JBrowse link
G GRK4 G protein-coupled receptor kinase 4 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,963,571...3,040,760
Ensembl chr 4:2,963,571...3,040,760 		JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,228,349...2,242,121
Ensembl chr 4:2,227,464...2,242,133 		JBrowse link
G HGFAC HGF activator IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,441,005...3,449,486
Ensembl chr 4:3,441,968...3,449,486 		JBrowse link
G HTT huntingtin IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IDUA alpha-L-iduronidase IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LOC129992072 ATAC-STARR-seq lymphoblastoid active region 21192 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar
G LOC129992073 ATAC-STARR-seq lymphoblastoid active region 21193 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar
G LOC129992074 ATAC-STARR-seq lymphoblastoid active region 21194 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar
G MAEA macrophage erythroblast attacher, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,289,891...1,340,137
Ensembl chr 4:1,289,887...1,340,147 		JBrowse link
G MFSD10 major facilitator superfamily domain containing 10 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,930,567...2,934,825
Ensembl chr 4:2,930,561...2,934,834 		JBrowse link
G MSANTD1 Myb/SANT DNA binding domain containing 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,244,273...3,256,613
Ensembl chr 4:3,244,369...3,271,738 		JBrowse link
G MXD4 MAX dimerization protein 4 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,247,432...2,262,109
Ensembl chr 4:2,247,432...2,262,109 		JBrowse link
G MYL5 myosin light chain 5 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:674,542...682,028
Ensembl chr 4:673,580...682,028 		JBrowse link
G NAT8L N-acetyltransferase 8 like IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,059,327...2,069,089
Ensembl chr 4:2,059,327...2,069,089 		JBrowse link
G NELFA negative elongation factor complex member A IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NICOL1 NELL2 interacting cell ontogeny regulator 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,036,554...2,043,964
Ensembl chr 4:2,041,995...2,043,964 		JBrowse link
G NKX1-1 NK1 homeobox 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,402,932...1,406,442
Ensembl chr 4:1,402,932...1,406,442 		JBrowse link
G NOP14 NOP14 nucleolar protein IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,937,936...2,963,406
Ensembl chr 4:2,937,933...2,963,406 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G PCGF3 polycomb group ring finger 3 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:705,832...770,089
Ensembl chr 4:705,748...770,089 		JBrowse link
G PDE6B phosphodiesterase 6B IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G POLN DNA polymerase nu IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,071,918...2,242,121
Ensembl chr 4:2,071,918...2,242,121 		JBrowse link
G RGS12 regulator of G protein signaling 12 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:3,285,891...3,439,913
Ensembl chr 4:3,293,021...3,439,913 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RNF212 ring finger protein 212 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,056,251...1,113,710
Ensembl chr 4:1,056,250...1,113,564 		JBrowse link
G RNF4 ring finger protein 4 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,469,106...2,515,857
Ensembl chr 4:2,462,220...2,515,857 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw
OMIM:118400
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... RGD:1599339 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,071...2,841,098 		JBrowse link
G SLBP stem-loop histone mRNA binding protein IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,692,731...1,712,319
Ensembl chr 4:1,692,731...1,712,344 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440 		JBrowse link
G SLC49A3 solute carrier family 49 member 3 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:676,826...691,624
Ensembl chr 4:681,829...689,271 		JBrowse link
G SPON2 spondin 2 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,166,932...1,208,844
Ensembl chr 4:1,166,932...1,208,962 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,721,521...1,745,171
Ensembl chr 4:1,712,858...1,745,171 		JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,715,952...1,721,323
Ensembl chr 4:1,715,952...1,721,358 		JBrowse link
G TMEM175 transmembrane protein 175 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:932,460...958,656
Ensembl chr 4:932,387...958,656 		JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,741,648...2,756,336
Ensembl chr 4:2,741,648...2,756,342 		JBrowse link
G UVSSA UV stimulated scaffold protein A IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:1,342,011...1,395,989
Ensembl chr 4:1,345,691...1,395,989 		JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,269,597...2,418,645
Ensembl chr 4:2,269,582...2,418,651 		JBrowse link
G ZNF721 zinc finger protein 721 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:439,988...499,156
Ensembl chr 4:425,815...499,156 		JBrowse link
McCune Albright syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP
EXP		 ClinVar Annotator: match by term: Albright's disease
ClinVar Annotator: match by term: McCune-Albright syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP ClinVar Annotator: match by term: McCune-Albright syndrome ClinVar PMID:25741868 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment IEP RGD PMID:16720661 RGD:12743609 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3275
        osteochondrodysplasia 1231
          Fibrous Dysplasia of Bone 56
            Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
            Fibrous Dysplasia, Monostotic 0
            Florid Cemento-Osseous Dysplasia 0
            Lichtenstein Syndrome 0
            McCune Albright syndrome 3
            Panostotic Fibrous Dysplasia 0
            cherubism + 51
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Skin and Connective Tissue Diseases 9687
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3275
              osteochondrodysplasia 1231
                Fibrous Dysplasia of Bone 56
                  Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
                  Fibrous Dysplasia, Monostotic 0
                  Florid Cemento-Osseous Dysplasia 0
                  Lichtenstein Syndrome 0
                  McCune Albright syndrome 3
                  Panostotic Fibrous Dysplasia 0
                  cherubism + 51
paths to the root