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 NW_004955420 18,178,639 18,384,786 RGD:9068941
RGD:7240710

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Path 1
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  disease 10540
    syndrome 3629
      ADULT syndrome 1
Path 2
Term Annotations click to browse term
  disease 10540
    disease of anatomical entity 10091
      nervous system disease 7755
        sensory system disease 3700
          eye and adnexa disease 1781
            eye disease 1781
              lacrimal apparatus disease 80
                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.