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ONTOLOGY REPORT - ANNOTATIONS


Term:ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
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Accession:DOID:0090119 term browser browse the term
Definition:An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. (DO)
Synonyms:exact_synonym: AEC SYNDROME;   ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE;   Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome;   Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate;   Hay Wells syndrome dominant form;   Hay-Wells Syndrome;   Hay-Wells syndrome of ectodermal dysplasia
 primary_id: MESH:C535847
 alt_id: OMIM:106260
 xref: ORDO:1071
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ankyloblepharon-ectodermal defects-cleft lip/palate 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:11554173
RGD:11568643
RGD:8554872

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Path 1
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  disease 16017
    syndrome 6141
      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
Path 2
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  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        Congenital Abnormalities 4507
          Musculoskeletal Abnormalities 1504
            Craniofacial Abnormalities 1238
              Maxillofacial Abnormalities 220
                Jaw Abnormalities 209
                  orofacial cleft 118
                    cleft palate 89
                      ankyloblepharon-ectodermal defects-cleft lip/palate 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.