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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 Filiforme Adnatum
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Accession:DOID:9004371 term browser browse the term
Synonyms:exact_synonym: AFA;   Ankyloblepharon Filiforme Adnatum and Cleft Palate;   Ankyloblepharon filiforme adnatum cleft palate;   Ankyloblepharon filiforme congenitum;   Congenital filiform fusion of the eyelids with cleft palate and-or cleft lip
 primary_id: MESH:C536373;   RDO:0001936
 alt_id: OMIM:106250


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Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum ClinVar PMID:25741868 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      orofacial cleft 155
        cleft palate 116
          Ankyloblepharon Filiforme Adnatum 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft palate 116
                      Ankyloblepharon Filiforme Adnatum 1
paths to the root