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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:Luo-Schoch-Yamamoto syndrome
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Accession:DOID:0070416 term browser browse the term
Definition:A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. (DO)
Synonyms:exact_synonym: LUSYAM;   RNF2-ASSOCIATED NEURODEVELOPMENTAL CONDITION
 primary_id: MIM:619460
 alt_id: DOID:9000444

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Luo-Schoch-Yamamoto syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf2 ring finger protein 2 ISO ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome | ClinVar Annotator: match by term: RNF2-associated neurodevelopmental condition OMIM
ClinVar		 PMID:25741868 PMID:33864376 NCBI chrNW_004624814:8,470,818...8,516,252 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14215
    Developmental Disease 12490
      Neurodevelopmental Disorders 6259
        intellectual disability 3982
          autosomal dominant intellectual developmental disorder 410
            Luo-Schoch-Yamamoto syndrome 1
Path 2
Term Annotations click to browse term
  disease 14215
    disease of anatomical entity 13931
      nervous system disease 12265
        central nervous system disease 10980
          brain disease 10303
            disease of mental health 7381
              developmental disorder of mental health 5041
                specific developmental disorder 4170
                  intellectual disability 3982
                    autosomal dominant intellectual developmental disorder 410
                      Luo-Schoch-Yamamoto syndrome 1
paths to the root