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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:9004385 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized mainly by global developmental delay with variably impaired intellectual development.
Synonyms:exact_synonym: YOBELN
 primary_id: OMIM:619701
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:26539891 PMID:28017472 PMID:34800363 NCBI chr16:7,578,305...7,604,385
Ensembl chr16:7,578,367...7,604,386
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      YOON-BELLEN NEURODEVELOPMENTAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        central nervous system disease 11278
          brain disease 10564
            disease of mental health 7492
              developmental disorder of mental health 4863
                specific developmental disorder 4124
                  intellectual disability 3939
                    YOON-BELLEN NEURODEVELOPMENTAL SYNDROME 1
paths to the root