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GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT - Ontology Report - Rat Genome Database

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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:GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
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Accession:DOID:9008363 term browser browse the term
Synonyms:exact_synonym: CUX1-RELATED CONDITION;   GDDI
 primary_id: MIM:618330
 xref: EFO:0010260

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show annotations for term's descendants           Sort by:
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cux1 cut-like homeobox 1 ISO ClinVar Annotator: match by term: CUX1-related condition | ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30014507 PMID:39825153 NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
Ensembl chr 4:20,107,311...20,425,866 		JBrowse link
G Taok1 TAO kinase 1 ISO ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development ClinVar PMID:25741868 NCBI chr10:62,871,198...62,989,049
Ensembl chr10:62,381,404...62,465,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Neurodevelopmental Disorders 6977
        Developmental Disabilities 758
          GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            disease of mental health 8477
              Neurodevelopmental Disorders 6977
                Developmental Disabilities 758
                  GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 2
paths to the root