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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 2
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Accession:DOID:0080804 term browser browse the term
Definition:A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. (DO)
Synonyms:exact_synonym: CED2
 broad_synonym: WDR35-related disorder
 primary_id: OMIM:613610


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cranioectodermal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Spag17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501 		JBrowse link
G Wdr35 WD repeat domain 35 ISO DNA:missense mutation:cds:p.L520P (human)
ClinVar Annotator: match by term: Cranioectodermal dysplasia 2		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... RGD:11553909 NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      ectodermal dysplasia 542
        cranioectodermal dysplasia 9
          cranioectodermal dysplasia 2 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  craniosynostosis 315
                    cranioectodermal dysplasia 9
                      cranioectodermal dysplasia 2 3
paths to the root