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
Accession: DOID:2785
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 .
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all