ONTOLOGY REPORT - ANNOTATIONS


Term:ADULT syndrome
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Accession:DOID:0050601 term browser browse the term
Definition:An autosomal dominant disease 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;   RDO:0003986
 xref: GARD:384
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ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      ADULT syndrome 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              lacrimal apparatus disease 92
                lacrimal duct obstruction 2
                  ADULT syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.