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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 46
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Accession:DOID:0081210 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 46;   MRT46;   mental retardation, autosomal recessive 46
 primary_id: OMIM:616116
 alt_id: DOID:9004558


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autosomal recessive intellectual developmental disorder 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 46		 OMIM
CTD
ClinVar		 PMID:21937992 PMID:25125150 PMID:25741868 PMID:27620904 PMID:27870114 More... NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191 		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 46 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 46 1
paths to the root