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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 NUP88 on chromosome 17p13.2. (DO)
Synonyms:exact_synonym: FADS4;   fetal akinesia deformation sequence 4
 primary_id: OMIM:618393
For additional species annotation, visit the Alliance of Genome Resources.


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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:30543681 NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      fetal akinesia deformation sequence syndrome 43
        fetal akinesia deformation sequence syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                Arthrogryposis 94
                  fetal akinesia deformation sequence syndrome 43
                    fetal akinesia deformation sequence syndrome 4 1
paths to the root