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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;   RDO:0001258
For additional species annotation, visit the Alliance of Genome Resources.


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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7739708 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Trim37 tripartite motif-containing 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr10:74,436,165...74,568,636
Ensembl chr10:74,436,208...74,568,493
JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam193a family with sequence similarity 193, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,515,897...81,638,919
Ensembl chr14:81,516,407...81,638,934
JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,837,772...81,857,458
Ensembl chr14:81,837,809...81,856,830
JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,819,415...81,833,456
Ensembl chr14:81,819,415...81,833,456
JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:82,041,616...82,048,251
Ensembl chr14:82,041,616...82,048,251
JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,837,764...82,037,999
Ensembl chr14:81,858,737...82,037,747
JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,658,400...81,679,756
Ensembl chr14:81,660,354...81,679,082
JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar Annotator: match by term: Cherubism
ClinVar Annotator: match by OMIM:118400
ClinVar
OMIM
PMID:11381256, PMID:12900899, PMID:14577811, PMID:16786512, PMID:17321449, PMID:18596838, PMID:21045962, PMID:21794028, PMID:22153076, PMID:22153077, PMID:22795151, PMID:23298620, PMID:24033266, PMID:24382142, PMID:24608212, PMID:24916406, PMID:25144740, PMID:25741868, PMID:26064398, PMID:27272835, PMID:28492532, PMID:28644570, PMID:30236129, PMID:11381256 RGD:1599339 NCBI chr14:81,435,445...81,473,013
Ensembl chr14:81,435,449...81,472,952
JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,487,934...81,505,889
Ensembl chr14:81,488,008...81,504,686
JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,725,513...81,811,142
Ensembl chr14:81,725,513...81,811,142
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 ISO ClinVar Annotator: match by term: McCune-Albright syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1594625, PMID:1944469, PMID:2549426, PMID:3720010, PMID:7737262, PMID:7739708, PMID:7751320, PMID:8766942, PMID:9267696, PMID:9626141, PMID:10571700, PMID:12727968, PMID:12970318, PMID:15126527, PMID:16507630, PMID:17493233, PMID:18345393, PMID:21835143, PMID:23536913, PMID:24855271, PMID:25157968, PMID:26619011 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:16720661 RGD:12743609 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      bone development disease 1329
        osteochondrodysplasia 435
          Fibrous Dysplasia of Bone 13
            Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
            Fibrous Dysplasia, Monostotic 0
            Florid Cemento-Osseous Dysplasia 0
            Lichtenstein Syndrome 0
            McCune Albright syndrome 2
            Panostotic Fibrous Dysplasia 0
            cherubism + 9
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                Fibrous Dysplasia of Bone 13
                  Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
                  Fibrous Dysplasia, Monostotic 0
                  Florid Cemento-Osseous Dysplasia 0
                  Lichtenstein Syndrome 0
                  McCune Albright syndrome 2
                  Panostotic Fibrous Dysplasia 0
                  cherubism + 9
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.