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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 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 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 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 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 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 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 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
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 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 16103
    syndrome 6989
      Dandy-Walker syndrome 18
        Chitayat Moore Del Bigio Syndrome 0
        Dandy Walker Cyst + 1
        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 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            cerebral degeneration 271
              hydrocephalus 117
                Dandy-Walker syndrome 18
                  Chitayat Moore Del Bigio Syndrome 0
                  Dandy Walker Cyst + 1
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.