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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:Autosomal Recessive Intellectual Developmental Disorder 81
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Accession:DOID:9008488 term browser browse the term
Definition:A disease characterized by a variable neurobehavioral and neuromuscular phenotype. Caused by homozygous or compound heterozygous mutation in the ASCC3 gene on chromosome 6q16.
Synonyms:exact_synonym: ASCC3-ASSOCIATED DISORDER;   MRT81
 primary_id: OMIM:620700


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Autosomal Recessive Intellectual Developmental Disorder 81 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc3 activating signal cointegrator 1 complex subunit 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 81 OMIM
ClinVar		 PMID:21937992 PMID:25741868 PMID:35047834 NCBI chr20:53,510,137...53,795,446
Ensembl chr20:53,510,184...53,790,165 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Neurodevelopmental Disorders 6845
        intellectual disability 4298
          autosomal recessive intellectual developmental disorder 293
            Autosomal Recessive Intellectual Developmental Disorder 81 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            disease of mental health 8318
              developmental disorder of mental health 5551
                specific developmental disorder 4516
                  intellectual disability 4298
                    autosomal recessive intellectual developmental disorder 293
                      Autosomal Recessive Intellectual Developmental Disorder 81 1
paths to the root