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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: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 Deformities;   Dandy-Walker Deformity;   Dandy-Walker complex;   Dandy-Walker complices;   Familial Dandy-Walker Syndrome;   Hydrocephalus, Internal, Dandy-Walker Type;   Luschka-Magendie foramina atresia;   atresia of foramina of Magendie and Luschka;   noncommunicating hydrocephalus, Dandy-Walker Type
 narrow_synonym: DANDY-WALKER MALFORMATION;   DWM
 primary_id: MESH:D003616
 alt_id: OMIM:220200
 xref: GARD:6242;   ICD10CM:Q03.1;   NCI:C75012
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Dandy-Walker syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:28492532 PMID:28625504 PMID:31474318 NCBI chr 9:93,172,718...93,299,119
Ensembl chr 9:93,172,673...93,296,750 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356 		JBrowse link
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924 		JBrowse link
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407 		JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 6:26,939,696...27,024,129
Ensembl chr 6:26,939,697...27,024,129 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668217 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:7562969 PMID:8062435 PMID:11772994 PMID:28492532 PMID:30311386 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057 		JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715 		JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:12181311 PMID:25292412 PMID:28334876 PMID:28639748 PMID:31474318 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:30858804 PMID:31474318 NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 PMID:28211982 PMID:28492532 PMID:31474318 NCBI chr 6:23,548,507...23,581,136
Ensembl chr 6:23,549,317...23,581,052 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162 		JBrowse link
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25558065 NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:31474318 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224 		JBrowse link
G Tmem47 transmembrane protein 47 ISO ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar NCBI chr  X:48,779,110...48,805,644
Ensembl chr  X:48,779,110...48,805,644 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:20466733 PMID:25741868 PMID:30744660 PMID:31474318 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Dandy-Walker syndrome ClinVar PMID:25741868 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966 		JBrowse link
G Zfp423 zinc finger protein 423 ISS OMIM:220200 MouseDO NCBI chr19:20,147,201...20,405,999
Ensembl chr19:20,147,037...20,406,003 		JBrowse link
G Zic1 Zic family member 1 ISO
ISS		 OMIM:220200 MouseDO PMID:15338008 RGD:1599905 NCBI chr 8:98,733,715...98,738,960
Ensembl chr 8:98,734,295...98,738,446 		JBrowse link
G Zic4 Zic family member 4 ISS OMIM:220200 MouseDO NCBI chr 8:98,755,104...98,760,737
Ensembl chr 8:98,745,310...98,761,840 		JBrowse link
Dandy Walker Cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Dandy-Walker cyst ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:31474318 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356 		JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Meckel syndrome type 7
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia		 OMIM
ClinVar		 PMID:12872122 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:30311386 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745 		JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar		 PMID:8874114 PMID:12872122 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:28991257 PMID:30311386 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745 		JBrowse link
Ritscher-Schinzel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925 		JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268 		JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476 PMID:21826058 PMID:24916641 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925 		JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chr 6:26,939,696...27,024,129
Ensembl chr 6:26,939,697...27,024,129 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar		 PMID:7604842 PMID:17160902 PMID:23455931 PMID:24065355 PMID:25741868 PMID:27957547 PMID:28492532 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268 		JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2
ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 2		 OMIM
ClinVar		 PMID:19377476 PMID:21826058 PMID:24916641 PMID:25741868 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925 		JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5
ClinVar Annotator: match by OMIM:304340		 OMIM
ClinVar
CTD		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:23756445 PMID:25741868 NCBI chr  X:32,329,883...32,376,301
Ensembl chr  X:32,329,598...32,355,307 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Dandy-Walker syndrome 29
        Chitayat Moore Del Bigio Syndrome 0
        Dandy Walker Cyst + 2
        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 + 3
        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 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            cerebral degeneration 276
              hydrocephalus 124
                Dandy-Walker syndrome 29
                  Chitayat Moore Del Bigio Syndrome 0
                  Dandy Walker Cyst + 2
                  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 + 3
                  Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus 0
                  Volcke Soekarman Syndrome 0
                  syndromic X-linked intellectual disability 5 2
paths to the root