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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 chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4652
      orofacial cleft 149
        cleft palate 113
          Ankyloblepharon Filiforme Adnatum 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16378
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16321
        Congenital Abnormalities 7001
          Musculoskeletal Abnormalities 3127
            Craniofacial Abnormalities 2523
              Maxillofacial Abnormalities 299
                Jaw Abnormalities 255
                  orofacial cleft 149
                    cleft palate 113
                      Ankyloblepharon Filiforme Adnatum 1
paths to the root