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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:Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction
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Accession:DOID:9008248 term browser browse the term
Synonyms:exact_synonym: FPVEPD
 primary_id: OMIM:617732



show annotations for term's descendants           Sort by:
Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction OMIM
ClinVar
PMID:25741868 PMID:29016863 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      mouth disease 1012
        facial nerve disease 55
          facial paralysis 6
            Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            cranial nerve disease 686
              facial nerve disease 55
                facial paralysis 6
                  Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction 1
paths to the root