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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:LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
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Accession:DOID:9000267 term browser browse the term
Synonyms:exact_synonym: LADCI
 primary_id: OMIM:617182


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LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 guanine nucleotide binding protein (G protein), beta 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27523599 PMID:27677260 PMID:29368331 PMID:30631341 More... NCBI chr 9:75,213,570...75,253,205
Ensembl chr 9:75,213,570...75,253,158 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Language Development Disorders 65
        LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                specific developmental disorder 4534
                  communication disorder 390
                    language disorder 158
                      Language Development Disorders 65
                        LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 1
paths to the root