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 autosomal dominant disease characterized by autosomal dominant inheritance in tissues arising from the ectoderm including: ankyloblepharon filiforme adnatum and cleft lip and palate that has_material_basis_in heterozygous mutation in the 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
 primary_id: MESH:C535847;   RDO:0001182
 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:8554872
RGD:11554173
RGD:11568643

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  disease 14823
    syndrome 4218
      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
Path 2
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Musculoskeletal Abnormalities 1191
            Craniofacial Abnormalities 949
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft palate 90
                      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.