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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 4
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Accession:DOID:0111379 term browser browse the term
Definition:A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. (DO)
Synonyms:exact_synonym: FADS4;   fetal akinesia deformation sequence 4
 primary_id: MIM:618393


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fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 OMIM
ClinVar		 PMID:25741868 PMID:30543681 NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257 		JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      fetal akinesia deformation sequence syndrome 72
        fetal akinesia deformation sequence syndrome 4 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7807
        connective tissue disease 5958
          bone disease 4411
            bone inflammation disease 1556
              arthropathy 1535
                arthrogryposis multiplex congenita 259
                  fetal akinesia deformation sequence syndrome 72
                    fetal akinesia deformation sequence syndrome 4 2
paths to the root