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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:OTOFACIAL NEURODEVELOPMENTAL SYNDROME
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Accession:DOID:9009059 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay, behavioral abnormalities, and variable facial asymmetry with outer and inner ear malformations and hearing impairment.
Synonyms:exact_synonym: OFNS
 primary_id: MIM:620910


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OTOFACIAL NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Otofacial neurodevelopmental syndrome ClinVar
OMIM		 PMID:25741868 PMID:38386308 NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Neurodevelopmental Disorders 6949
        OTOFACIAL NEURODEVELOPMENTAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            disease of mental health 8427
              Neurodevelopmental Disorders 6949
                OTOFACIAL NEURODEVELOPMENTAL SYNDROME 1
paths to the root