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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:Camurati-Engelmann disease
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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.



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Camurati-Engelmann disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Mitf melanocyte inducing transcription factor ISS OMIM:131300 | OMIM:606631 MouseDO NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia
ClinVar Annotator: match by OMIM:131300
ClinVar Annotator: match by term: Camurati-Engelmann Disease
OMIM
ClinVar
PMID:10973241 PMID:11062463 PMID:11278244 PMID:12843182 PMID:15103729 More... NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        osteochondrodysplasia 478
          Camurati-Engelmann disease 4
            Camurati Engelmann Disease, Type 2 0
            Progressive Diaphyseal Dysplasia 1 1
            Ribbing Disease 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                osteosclerosis 43
                  Camurati-Engelmann disease 4
                    Camurati Engelmann Disease, Type 2 0
                    Progressive Diaphyseal Dysplasia 1 1
                    Ribbing Disease 0
paths to the root