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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 language delay and seizures
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Accession:DOID:0070444 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: NEDLDS;   TIAM1-RELATED CONDITION
 primary_id: MIM:619908
 alt_id: DOID:9003411



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neurodevelopmental disorder with language delay and seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures | ClinVar Annotator: match by term: TIAM1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:35240055 NCBI chr11:42,517,527...42,866,280
Ensembl chr11:29,031,348...29,159,901
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    Developmental Disease 14667
      Language Development Disorders 73
        neurodevelopmental disorder with language delay and seizures 1
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        central nervous system disease 12636
          brain disease 11856
            disease of mental health 8455
              developmental disorder of mental health 5649
                specific developmental disorder 4612
                  communication disorder 419
                    language disorder 170
                      Language Development Disorders 73
                        neurodevelopmental disorder with language delay and seizures 1
paths to the root