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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:Stolerman neurodevelopmental syndrome
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Accession:DOID:0081443 term browser browse the term
Definition:A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: KDM6B-RELATED CONDITION;   NEDCFSA;   NEDSST;   Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities
 primary_id: OMIM:618505
 alt_id: DOID:9007117

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Stolerman neurodevelopmental syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: KDM6B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31124279 PMID:37196654 NCBI chr16:7,221,769...7,241,230
Ensembl chr16:7,232,426...7,241,040 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    syndrome 9980
      Stolerman neurodevelopmental syndrome 1
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      nervous system disease 12970
        central nervous system disease 11623
          brain disease 10912
            disease of mental health 7850
              Neurodevelopmental Disorders 6637
                Stolerman neurodevelopmental syndrome 1
paths to the root