Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism 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:ADULT syndrome
go back to main search page
Accession:DOID:0050601 term browser browse the term
Definition:A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. (DO)
Synonyms:exact_synonym: acro-dermato-ungual-lacrimal-tooth syndrome;   pigment anomaly ectrodactyly hypodontia;   propping Zerres syndrome
 primary_id: MESH:C538052
 alt_id: OMIM:103285
 xref: GARD:384


show annotations for term's descendants           Sort by:
ADULT syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... 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 21086
    syndrome 10782
      ectodermal dysplasia 537
        ADULT syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        Neurologic Manifestations 9942
          sensory system disease 6847
            mouth disease 935
              tooth disease 378
                Tooth Abnormalities 232
                  anodontia 65
                    ADULT syndrome 1
paths to the root