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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:Arthrogryposis, Mental Retardation, and Seizures
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Accession:DOID:9008858 term browser browse the term
Synonyms:exact_synonym: AMRS
 primary_id: OMIM:615553
 alt_id: RDO:9000996
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by OMIM:615553
ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures
OMIM
ClinVar
PMID:24031089, PMID:25741868, PMID:28492532, PMID:28777481 NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Neurodevelopmental Disorders 4554
        intellectual disability 2107
          Arthrogryposis, Mental Retardation, and Seizures 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    Arthrogryposis, Mental Retardation, and Seizures 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.