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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: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
ClinVar Annotator: match by term: AEC syndrome
OMIM
CTD
ClinVar
PMID:8456838, PMID:9774969, PMID:10886756, PMID:11159940, PMID:11929852, PMID:15200513, PMID:16724007, PMID:18603493, PMID:18626511, PMID:19239083, PMID:19353588, PMID:19676059, PMID:19781362, PMID:19793345, PMID:20543567, PMID:21615690, PMID:27469932, PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft palate 96
                      ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.