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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
ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies
OMIM
ClinVar
PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:32346159 NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Neurodevelopmental Disorders 5759
        NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        central nervous system disease 10473
          brain disease 9833
            disease of mental health 7117
              developmental disorder of mental health 4432
                specific developmental disorder 3680
                  communication disorder 259
                    language disorder 110
                      speech disorder 68
                        NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES 1
paths to the root