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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: Ectrodactyly-Cleft Lip/Palate Syndrome;   Rudiger syndrome 1;   Walker-Clodius syndrome;   cleft lip-cleft palate-lobster claw deformity syndrome;   ectrodactyly, ectodermal dysplasia, and 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:10535733, PMID:10839977, PMID:11462173, PMID:12525544, PMID:12939657, PMID:16691622, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:25983622, PMID:11462173, PMID:19903181, PMID:15324320, PMID:23775923 RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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, PMID:10936828, PMID:11462173, PMID:12161593, PMID:12525544, PMID:12838557, PMID:12939657, PMID:16691622, PMID:17041931, PMID:17431922, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21204238, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:25983622, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:10535733, PMID:11903230, PMID:12161593, PMID:26470833 RGD:1600403, RGD:11568640, RGD:11568642, RGD:11532814 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Craniofacial Abnormalities 1475
              Maxillofacial Abnormalities 248
                Jaw Abnormalities 236
                  orofacial cleft 131
                    cleft palate 100
                      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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.