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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:ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
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Accession:DOID:0060783 term browser browse the term
Definition:An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: EEC Syndrome 3;   EEC3
 primary_id: MESH:C565799
 alt_id: OMIM:604292
 xref: NCI:C148261
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
CTD
ClinVar
RGD		 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 18032
    syndrome 9456
      EEC syndrome 1
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Musculoskeletal Abnormalities 2678
            Craniofacial Abnormalities 2309
              Maxillofacial Abnormalities 280
                Jaw Abnormalities 233
                  orofacial cleft 135
                    cleft palate 103
                      EEC syndrome 1
                        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
paths to the root