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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:ADULT syndrome
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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: Propping Zerres syndrome;   acro-dermato-ungual-lacrimal-tooth syndrome;   pigment anomaly ectrodactyly hypodontia
 primary_id: MESH:C538052
 alt_id: OMIM:103285
 xref: GARD:384
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:103285
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:11462173 PMID:11528512 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      ADULT syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          mouth disease 783
            tooth disease 299
              Tooth Abnormalities 155
                anodontia 41
                  ADULT syndrome 1
paths to the root