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 34 21,766,861 21,985,095 RGD:7240710

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Path 1
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  disease 11301
    syndrome 3764
      ADULT syndrome 1
Path 2
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  disease 11301
    disease of anatomical entity 10812
      nervous system disease 8297
        sensory system disease 3908
          eye and adnexa disease 1868
            eye disease 1868
              lacrimal apparatus disease 89
                lacrimal duct obstruction 2
                  ADULT syndrome 1
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