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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: MIM: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 chr11:88,343,647...88,554,543 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5191
      orofacial cleft 160
        cleft palate 118
          Ankyloblepharon Filiforme Adnatum 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        Congenital Abnormalities 7885
          Musculoskeletal Abnormalities 3456
            Craniofacial Abnormalities 2778
              Maxillofacial Abnormalities 315
                Jaw Abnormalities 269
                  orofacial cleft 160
                    cleft palate 118
                      Ankyloblepharon Filiforme Adnatum 1
paths to the root