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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 3
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Accession:DOID:0111376 term browser browse the term
Definition:A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in DOK7 on chromosome 4p16.3. (DO)
Synonyms:exact_synonym: FADS3;   fetal akinesia deformation sequence 3
 primary_id: OMIM:618389
For additional species annotation, visit the Alliance of Genome Resources.


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fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3 OMIM
ClinVar
PMID:16917026, PMID:18161030, PMID:18626973, PMID:19261599, PMID:21850686, PMID:22661499, PMID:28492532, PMID:31880392 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      fetal akinesia deformation sequence syndrome 43
        fetal akinesia deformation sequence syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                Arthrogryposis 96
                  fetal akinesia deformation sequence syndrome 43
                    fetal akinesia deformation sequence syndrome 3 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.