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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      ADULT syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              lacrimal apparatus disease 92
                lacrimal duct obstruction 2
                  ADULT syndrome 1
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