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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 autosomal dominant disease that is characterized by congenital ectodermal dysplasia including 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 OF ECTODERMAL DYSPLASIA;   Hay Wells Syndrome Dominant Form;   Hay-Wells Syndrome
 primary_id: MESH:C535847;   RDO:0001182
 alt_id: OMIM:106260
 xref: ORDO:1071
For additional species annotation, visit the Alliance of Genome Resources.


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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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  disease 15619
    syndrome 5154
      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
Path 2
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  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Musculoskeletal Abnormalities 1302
            Craniofacial Abnormalities 1046
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  orofacial cleft 114
                    cleft palate 92
                      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.