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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 SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
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Accession:DOID:9001194 term browser browse the term
Definition:This disease is characterized by developmental delay associated with impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition.
Synonyms:exact_synonym: NEDSID
 pimary_id: OMIM:619056
For additional species annotation, visit the Alliance of Genome Resources.


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NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd1a SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES OMIM
ClinVar
PMID:32346159 NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  communication disorder 240
                    language disorder 141
                      speech disorder 66
                        NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES 1
paths to the root