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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;   NUP88-RELATED CONDITION;   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 | ClinVar Annotator: match by term: NUP88-related condition OMIM
ClinVar		 PMID:25741868 PMID:30543681 NCBI chr10:56,166,486...56,190,829
Ensembl chr10:56,166,486...56,191,383 		JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 | ClinVar Annotator: match by term: NUP88-related condition ClinVar PMID:25741868 NCBI chr10:56,064,742...56,168,778
Ensembl chr10:56,064,753...56,166,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      fetal akinesia deformation sequence syndrome 71
        fetal akinesia deformation sequence syndrome 4 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                arthrogryposis multiplex congenita 264
                  fetal akinesia deformation sequence syndrome 71
                    fetal akinesia deformation sequence syndrome 4 2
paths to the root