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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
For additional species annotation, visit the Alliance of Genome Resources.


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EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse)
CTD
ClinVar
PMID:8737655 PMID:9443880 PMID:10535733 PMID:10839977 PMID:11462173 More... RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 susceptibility ISO DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by OMIM:604292
ClinVar Annotator: match by null
DNA:missense mutation:exon:p.R279H (835G>A)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:nonsense mutation: :p.Q16X (human)
ClinVar Annotator: match by term: EEC SYNDROME 3
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 More... RGD:1600403, RGD:11568640, RGD:11568642, RGD:11532814 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      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 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  orofacial cleft 129
                    cleft palate 95
                      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