Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Camurati-Engelmann disease
go back to main search page
Accession:DOID:4997 term browser browse the term
Definition:An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. (DO)
Synonyms:exact_synonym: CAEND;   CED;   Camurati-Engelmann syndrome;   Engelman's disease;   Engelmann disease;   Engelmann's disease;   PDD;   diaphyseal dysplasia;   diaphyseal hyperostosis;   progressive diaphyseal dysplasia;   progressive diaphyseal dysplasias
 primary_id: MESH:D003966
 alt_id: OMIM:131300
 xref: GARD:1072;   ICD10CM:Q78.3;   NCI:C84610
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Camurati-Engelmann disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:25741868 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		JBrowse link
G MITF melanocyte inducing transcription factor ISO OMIM:131300 | OMIM:606631 MouseDO NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia OMIM
ClinVar		 PMID:10973241 PMID:11062463 PMID:11278244 PMID:12843182 PMID:15103729 More... NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
Progressive Diaphyseal Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFB1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive ClinVar PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      bone development disease 2299
        osteochondrodysplasia 870
          Camurati-Engelmann disease 3
            Camurati Engelmann Disease, Type 2 0
            Progressive Diaphyseal Dysplasia 1 1
            Ribbing Disease 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2299
              osteochondrodysplasia 870
                osteosclerosis 58
                  Camurati-Engelmann disease 3
                    Camurati Engelmann Disease, Type 2 0
                    Progressive Diaphyseal Dysplasia 1 1
                    Ribbing Disease 0
paths to the root