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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:Yoon-Bellen neurodevelopmental syndrome
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Accession:DOID:0070468 term browser browse the term
Definition:A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. (DO)
Synonyms:exact_synonym: YOBELN
 primary_id: OMIM:619701
 alt_id: DOID:9004385


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Yoon-Bellen neurodevelopmental syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogdhl oxoglutarate dehydrogenase L ISO ClinVar Annotator: match by term: Yoon-Bellen neurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28017472 PMID:34800363 NCBI chr16:7,578,343...7,604,385
Ensembl chr16:7,578,367...7,604,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Yoon-Bellen neurodevelopmental syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    Yoon-Bellen neurodevelopmental syndrome 1
paths to the root