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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: GDDI
 primary_id: MIM:618330
 xref: EFO:0010260


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: Global developmental delay with or without impaired intellectual development OMIM
ClinVar		 PMID:25741868 PMID:30014507 NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...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 chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Neurodevelopmental Disorders 6949
        Developmental Disabilities 780
          GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            disease of mental health 8427
              Neurodevelopmental Disorders 6949
                Developmental Disabilities 780
                  GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 2
paths to the root