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fetal akinesia deformation sequence syndrome 2 - Ontology Report - Rat Genome Database

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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 the RAPSN gene on chromosome 11p11.2. (DO)
Synonyms:exact_synonym: FADS2;   fetal akinesia deformation sequence 2
 xref: MIM:618388;   MONDO:0100102

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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 N Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chrNW_004624767:1,350,820...1,358,107
Ensembl chrNW_004624767:1,351,370...1,358,187 		JBrowse link
G G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164 		JBrowse link
G P RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 2:15,166,968...15,181,011
Ensembl chr 2:15,166,306...15,193,047 		JBrowse link
G S Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181 		JBrowse link
G D RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673 		JBrowse link
G B RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667 		JBrowse link
G C Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chrNW_004955422:826,556...834,483
Ensembl chrNW_004955422:826,727...834,289 		JBrowse link
G R Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 3:97,470,891...97,480,196
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G M Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		JBrowse link
G H RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      fetal akinesia deformation sequence syndrome 726
        fetal akinesia deformation sequence syndrome 2 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Skin and Connective Tissue Diseases 92289
        connective tissue disease 68438
          bone disease 49930
            bone inflammation disease 20433
              arthropathy 20220
                arthrogryposis multiplex congenita 2620
                  fetal akinesia deformation sequence syndrome 726
                    fetal akinesia deformation sequence syndrome 2 10
paths to the root