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 Trp63 transformation related protein 63 JBrowse link 16 25,683,763 25,892,088 RGD:7240710
RGD:8554872

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Path 1
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  disease 11780
    syndrome 3893
      ADULT syndrome 1
Path 2
Term Annotations click to browse term
  disease 11780
    disease of anatomical entity 11243
      nervous system disease 8527
        sensory system disease 4015
          eye and adnexa disease 1925
            eye disease 1925
              lacrimal apparatus disease 91
                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.