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Luo-Schoch-Yamamoto syndrome - Ontology Report - Rat Genome Database

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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 chr13:66,103,943...66,136,038
Ensembl chr13:63,554,862...63,583,099 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Neurodevelopmental Disorders 6972
        intellectual disability 4391
          autosomal dominant intellectual developmental disorder 464
            Luo-Schoch-Yamamoto syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  intellectual disability 4391
                    autosomal dominant intellectual developmental disorder 464
                      Luo-Schoch-Yamamoto syndrome 1
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