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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:Harel-Yoon syndrome
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Accession:DOID:0081395 term browser browse the term
Definition:A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: HAYOS;   Ocular anomalies-axonal neuropathy-developmental delay syndrome
 primary_id: OMIM:617183
 alt_id: DOID:9006186
 xref: ORDO:496790

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Harel-Yoon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Harel-Yoon syndrome OMIM
ClinVar		 PMID:25741868 PMID:27640307 PMID:28492532 NCBI chr20:129,965,964...129,987,866 JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Harel-Yoon syndrome ClinVar NCBI chr20:125,558,640...125,635,748
Ensembl chr20:125,558,713...125,631,277 		JBrowse link
G LOC103225792 ATPase family AAA domain containing 3C ISO ClinVar Annotator: match by term: Harel-Yoon syndrome ClinVar PMID:25741868 NCBI chr20:129,997,941...130,008,356 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    syndrome 9981
      Harel-Yoon syndrome 3
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      nervous system disease 13000
        central nervous system disease 11626
          brain disease 10914
            disease of mental health 7852
              developmental disorder of mental health 5361
                specific developmental disorder 4390
                  intellectual disability 4201
                    Harel-Yoon syndrome 3
paths to the root