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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, Impaired Intellectual Development, and Seizures
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Accession:DOID:9008858 term browser browse the term
Synonyms:exact_synonym: AMRS;   ARTHROGRYPOSIS SYNDROME;   AUTISM SPECTRUM DISORDER - EPILEPSY - ARTHROGRYPOSIS SYNDROME;   SLC35A3-RELATED CONDITION;   arthrogryposis, mental retardation, and seizures
 primary_id: MIM:615553


show annotations for term's descendants           Sort by:
Arthrogryposis, Impaired Intellectual Development, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome ClinVar PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 NCBI chr 2:207,389,949...207,445,959
Ensembl chr 2:207,389,949...207,445,724 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis syndrome ClinVar PMID:25741868 PMID:26945064 PMID:29805041 PMID:35169139 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:52,269,185...52,293,000 		JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome | ClinVar Annotator: match by term: SLC35A3-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19299494 PMID:19763152 More... NCBI chr 2:207,305,008...207,344,225
Ensembl chr 2:207,307,947...207,344,155 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      arthrogryposis multiplex congenita 264
        Arthrogryposis, Impaired Intellectual Development, and Seizures 3
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    Arthrogryposis, Impaired Intellectual Development, and Seizures 3
paths to the root