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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: NCI:C157576;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OMIM
CTD
ClinVar
RGD
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 More... RGD:11568643 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        Congenital Abnormalities 6765
          Musculoskeletal Abnormalities 2775
            Craniofacial Abnormalities 2343
              Maxillofacial Abnormalities 285
                Jaw Abnormalities 238
                  orofacial cleft 136
                    cleft palate 105
                      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
paths to the root