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ONTOLOGY REPORT - ANNOTATIONS


Term:Camurati-Engelmann disease
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Accession:DOID:4997 term browser browse the term
Definition:An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
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;   RDO:0003484
 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 JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:13592920
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      bone development disease 1001
        osteochondrodysplasia 410
          Camurati-Engelmann disease 2
            Camurati Engelmann Disease, Type 2 0
            Progressive Diaphyseal Dysplasia 1 0
            Ribbing Disease 0
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        connective tissue disease 2790
          bone disease 2242
            bone development disease 1001
              osteochondrodysplasia 410
                osteosclerosis 44
                  Camurati-Engelmann disease 2
                    Camurati Engelmann Disease, Type 2 0
                    Progressive Diaphyseal Dysplasia 1 0
                    Ribbing Disease 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.