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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:NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
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Accession:DOID:9001367 term browser browse the term
Synonyms:exact_synonym: ITO-RAYMOND SYNDROME;   NEDALVS;   WASF1-RELATED CONDITION;   WASF1-RELATED NEURODEVELOPMENTAL DISORDER
 primary_id: MIM:618707
 xref: EFO:0010657



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NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wasf1 WASP family member 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures | ClinVar Annotator: match by term: WASF1-related condition | ClinVar Annotator: match by term: WASF1-related neurodevelopmental disorder OMIM
ClinVar
PMID:25741868 PMID:29961568 PMID:32581362 PMID:34356165 PMID:34845217 NCBI chr20:45,908,458...45,956,118
Ensembl chr20:44,325,795...44,372,996
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Neurodevelopmental Disorders 6969
        NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  communication disorder 421
                    language disorder 172
                      NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES 1
paths to the root