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ONTOLOGY REPORT - ANNOTATIONS


Term:Dandy-Walker syndrome
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Accession:DOID:2785 term browser browse the term
Definition:A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)
Synonyms:exact_synonym: DWS;   Dandy-Walker Complices;   Dandy-Walker Cyst;   Dandy-Walker Cysts;   Dandy-Walker Deformities;   Dandy-Walker Deformity;   Dandy-Walker complex;   Familial Dandy-Walker Syndrome;   Hydrocephalus, Internal, Dandy-Walker Type;   Hydrocephalus, Noncommunicating, Dandy-Walker Type;   Luschka-Magendie foramina atresia;   atresia of foramina of Magendie and Luschka
 narrow_synonym: DANDY-WALKER MALFORMATION;   DWM
 primary_id: MESH:D003616
 alt_id: OMIM:220200;   RDO:0000359
 xref: GARD:6242
For additional species annotation, visit the Alliance of Genome Resources.


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Dandy-Walker syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:8554872
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:13592920
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:1599905
RGD:13592920
G Zic4 Zic family member 4 JBrowse link 8 98,755,104 98,760,737 RGD:13592920
Dandy Walker Cyst term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Ritscher-Schinzel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:11554173
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
RGD:11554173
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:7240710
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 JBrowse link X 32,329,883 32,376,301 RGD:7240710
RGD:8554872
RGD:11554173
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Dandy-Walker syndrome 16
        Chitayat Moore Del Bigio Syndrome 0
        Dandy Walker Cyst + 3
        Dandy Walker Malformation Postaxial Polydactyly 0
        Dandy Walker Variant 0
        Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 0
        Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 0
        Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
        Renal-Hepatic-Pancreatic Dysplasia 1 1
        Ritscher-Schinzel syndrome + 2
        Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 0
        Volcke Soekarman Syndrome 0
        syndromic X-linked intellectual disability 5 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            cerebral degeneration 194
              hydrocephalus 91
                Dandy-Walker syndrome 16
                  Chitayat Moore Del Bigio Syndrome 0
                  Dandy Walker Cyst + 3
                  Dandy Walker Malformation Postaxial Polydactyly 0
                  Dandy Walker Variant 0
                  Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 0
                  Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant 0
                  Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
                  Renal-Hepatic-Pancreatic Dysplasia 1 1
                  Ritscher-Schinzel syndrome + 2
                  Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 0
                  Volcke Soekarman Syndrome 0
                  syndromic X-linked intellectual disability 5 2
paths to the root