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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:Developmental Delay, Language Impairment, and Ocular Abnormalities
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Accession:DOID:9005464 term browser browse the term
Definition:A disease characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Caused by heterozygous mutation in the ARPC4 gene on chromosome 3p25.
Synonyms:exact_synonym: DEVLO
 primary_id: MIM:620141


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Developmental Delay, Language Impairment, and Ocular Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities OMIM
ClinVar		 PMID:25741868 PMID:35047857 NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Language Development Disorders 74
        Developmental Delay, Language Impairment, and Ocular Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        central nervous system disease 12627
          brain disease 11847
            disease of mental health 8447
              developmental disorder of mental health 5636
                specific developmental disorder 4596
                  communication disorder 420
                    language disorder 171
                      Language Development Disorders 74
                        Developmental Delay, Language Impairment, and Ocular Abnormalities 1
paths to the root