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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 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
RGD		 PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 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
ISS		 DNA:frameshift mutation, missense mutations: :multiple
DNA:missense mutation:exon:p.R279H (835G>A)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:nonsense mutation: :p.Q16X (human)
CTD Direct Evidence: marker/mechanism
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:604292		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 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 21112
    syndrome 10710
      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 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        Congenital Abnormalities 7412
          Musculoskeletal Abnormalities 3206
            Craniofacial Abnormalities 2556
              Maxillofacial Abnormalities 299
                Jaw Abnormalities 253
                  orofacial cleft 150
                    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