Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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;   RDO:0014343
 alt_id: OMIM:604292
 xref: NCI:C148261
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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:12445213 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:29130604 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 16085
    syndrome 7041
      EEC syndrome 1
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Musculoskeletal Abnormalities 1781
            Craniofacial Abnormalities 1480
              Maxillofacial Abnormalities 250
                Jaw Abnormalities 238
                  orofacial cleft 132
                    cleft lip 58
                      EEC syndrome 1
                        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
paths to the root