ONTOLOGY REPORT - ANNOTATIONS


Term:Sacral Defect and Anterior Sacral Meningocele
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Accession:DOID:9006951 term browser browse the term
Synonyms:exact_synonym: Agenesis of sacrum;   Caudal Dysgenesis Syndrome;   Hypoplasia of sacrum;   Lumbosacral agenesis;   Sacral Defect with Anterior Meningocele;   Sacral defect anterior meningocele
 narrow_synonym: CAUDAL REGRESSION SYNDROME;   SACRAL AGENESIS;   SDAM CAUDAL DYSGENESIS SYNDROME;   SIRENOMELIA
 primary_id: MESH:C537221;   RDO:0003010
 alt_id: OMIM:600145
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Sacral Defect and Anterior Sacral Meningocele term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casq2 calsequestrin 2 JBrowse link 2 204,512,361 204,568,643 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Vangl1 VANGL planar cell polarity protein 1 JBrowse link 2 204,575,592 204,625,835 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    physical disorder 742
      neural tube defect 100
        meningocele 5
          Sacral Defect and Anterior Sacral Meningocele 4
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        Female Urogenital Diseases and Pregnancy Complications 1644
          Female Urogenital Diseases 1396
            female reproductive system disease 1392
              prolapse of female genital organ 149
                enterocele 149
                  meningocele 5
                    Sacral Defect and Anterior Sacral Meningocele 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.