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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:EEC syndrome
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Accession:DOID:0060782 term browser browse the term
Definition:A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). (DO)
Synonyms:exact_synonym: Rudiger syndrome 1;   Walker-Clodius syndrome;   cleft lip-cleft palate-lobster claw deformity syndrome;   ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome;   ectrodactyly-cleft lip/palate syndrome;   ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome;   ectrodactyly-ectodermal dysplasia-clefting syndrome
 primary_id: MESH:C536189

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EEC syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      EEC syndrome 1
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Musculoskeletal Abnormalities 3133
            Craniofacial Abnormalities 2528
              Maxillofacial Abnormalities 301
                Jaw Abnormalities 257
                  orofacial cleft 149
                    cleft palate 113
                      EEC syndrome 1
                        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
                        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
paths to the root