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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:cranioectodermal dysplasia 3
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Accession:DOID:0080805 term browser browse the term
Definition:A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: CED3
 primary_id: OMIM:614099


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cranioectodermal dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 More... NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      ectodermal dysplasia 540
        cranioectodermal dysplasia 9
          cranioectodermal dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                synostosis 375
                  craniosynostosis 315
                    cranioectodermal dysplasia 9
                      cranioectodermal dysplasia 3 1
paths to the root