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cranioectodermal dysplasia 4 - Ontology Report - Rat Genome Database

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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 4
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Accession:DOID:0080806 term browser browse the term
Definition:A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)
Synonyms:exact_synonym: CED4
 primary_id: MIM:614378

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cranioectodermal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO DNA:missense mutation:cds:p.L750P (mouse)
ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... RGD:11552606 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      ectodermal dysplasia 553
        cranioectodermal dysplasia 10
          cranioectodermal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      Skin and Connective Tissue Diseases 7782
        connective tissue disease 5925
          bone disease 4372
            bone development disease 2350
              dysostosis 640
                synostosis 402
                  craniosynostosis 337
                    cranioectodermal dysplasia 10
                      cranioectodermal dysplasia 4 1
paths to the root