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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:fetal akinesia deformation sequence syndrome 2
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Accession:DOID:0111378 term browser browse the term
Definition:A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2. (DO)
Synonyms:exact_synonym: FADS2;   fetal akinesia deformation sequence 2
 primary_id: OMIM:618388
For additional species annotation, visit the Alliance of Genome Resources.


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fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2 OMIM
ClinVar
PMID:14504330 PMID:18179903 PMID:18252226 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      fetal akinesia deformation sequence syndrome 44
        fetal akinesia deformation sequence syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                Arthrogryposis 96
                  fetal akinesia deformation sequence syndrome 44
                    fetal akinesia deformation sequence syndrome 2 1
paths to the root