ONTOLOGY REPORT - ANNOTATIONS


Term:hydrocephalus
go back to main search page
Accession:DOID:10908 term browser browse the term
Definition:Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.
Synonyms:exact_synonym: Cerebral Ventriculomegalies;   Cerebral Ventriculomegaly;   Congenital Hydrocephalus;   Fetal Cerebral Ventriculomegalies;   Fetal Cerebral Ventriculomegaly;   HYC1;   Hydrocephalus Ex Vacuo;   aqueductal stenoses;   aqueductal stenosis;   hydrocephalus ex-vacuos;   hydrocephalus, X-linked;   hydrocephaly;   nonsyndromic hydrocephalus, autosomal recessive;   nonsyndromic hydrocephalus, autosomal recessive 1;   post traumatic hydrocephalus;   ventriculomegaly
 primary_id: MESH:D006849
 alt_id: OMIM:236600;   OMIM:236635;   RDO:0000274
 xref: GARD:6682;   OMIM:PS236600;   ORDO:2182;   ORDO:2185
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Add1 adducin 1 JBrowse link 14 81,367,466 81,426,610 RGD:13592920
G Ak7 adenylate kinase 7 JBrowse link 6 129,538,648 129,606,960 RGD:13592920
G Ak8 adenylate kinase 8 JBrowse link 3 7,279,429 7,394,509 RGD:13592920
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:5148011
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148011
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:13439722
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:8554872
G Bok BCL2 family apoptosis regulator BOK JBrowse link 9 100,829,593 100,840,498 RGD:1624238
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:13592920
G Ccdc85c coiled-coil domain containing 85C JBrowse link 6 132,113,806 132,183,434 RGD:13592920
G Ccdc88c coiled-coil domain containing 88C JBrowse link 6 124,905,811 125,028,011 RGD:7240710
RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 JBrowse link 2 211,183,410 211,207,458 RGD:13592920
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:11554173
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Dpcd deleted in primary ciliary dyskinesia JBrowse link 1 265,298,872 265,318,521 RGD:13592920
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
G E2f5 E2F transcription factor 5 JBrowse link 2 88,350,764 88,366,913 RGD:13592920
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8662364
G Fzd3 frizzled class receptor 3 JBrowse link 15 48,601,259 48,670,257 RGD:13592920
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:12904662
G Hmgb1 high mobility group box 1 JBrowse link 12 7,082,529 7,090,246 RGD:10402405
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:1624238
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:634487
RGD:11554173
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Itgb1 integrin subunit beta 1 JBrowse link 19 61,677,512 61,725,537 RGD:2325325
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Kif27 kinesin family member 27 JBrowse link 17 6,701,287 6,776,599 RGD:13592920
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:13592920
RGD:8554872
G Llgl1 LLGL scribble cell polarity complex component 1 JBrowse link 10 46,940,873 46,955,524 RGD:1300301
G Mboat7 membrane bound O-acyltransferase domain containing 7 JBrowse link 1 64,100,159 64,114,437 RGD:13592920
G Mpdz multiple PDZ domain crumbs cell polarity complex component JBrowse link 5 99,413,184 99,566,356 RGD:8554872
RGD:13592920
G Nme5 NME/NM23 family member 5 JBrowse link 18 27,357,460 27,374,641 RGD:13592920
G Nme7 NME/NM23 family member 7 JBrowse link 13 82,607,844 82,737,383 RGD:13592920
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:1358755
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:13592920
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:1624238
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:11554173
G Sox3 SRY-box 3 JBrowse link X 144,035,162 144,037,364 RGD:13592920
G Stk36 serine/threonine kinase 36 JBrowse link 9 81,880,175 81,908,014 RGD:13592920
G Tmem92 transmembrane protein 92 JBrowse link 10 82,545,238 82,575,822 RGD:8554872
G Ulk4 unc-51 like kinase 4 JBrowse link 8 129,631,003 129,919,080 RGD:13592920
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:7240710
RGD:8554872
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
cystic kidney disease with ventriculomegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb2 crumbs cell polarity complex component 2 JBrowse link 3 22,037,812 22,061,247 RGD:8554872
RGD:7240710
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
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
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:8554872
RGD:7240710
hydrolethalus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:8554872
RGD:13592920
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
Hydrolethalus Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyls1 HYLS1, centriolar and ciliogenesis associated JBrowse link 8 36,763,470 36,772,199 RGD:7240710
RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11554173
G Pus3 pseudouridine synthase 3 JBrowse link 8 36,760,874 36,769,167 RGD:8554872
Hydrolethalus Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:7240710
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
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:11554173
RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
RGD:11554173
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:8554872
RGD:11554173
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 16 20,415,109 20,424,982 RGD:7240710
RGD:8554872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:7240710
RGD:8554872
G Cep170 centrosomal protein 170 JBrowse link 13 94,807,090 94,887,448 RGD:8554872
G LOC689766 hypothetical protein LOC689766 JBrowse link 13 95,885,189 95,908,003 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:8554872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:7240710
RGD:8554872
Nonsyndromic Hydrocephalus, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadm acyl-CoA dehydrogenase medium chain JBrowse link 2 260,124,418 260,148,589 RGD:8554872
G Mpdz multiple PDZ domain crumbs cell polarity complex component JBrowse link 5 99,413,184 99,566,356 RGD:7240710
RGD:8554872
normal pressure hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
obstructive hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo9a myosin IXA JBrowse link 8 64,573,248 64,777,607 RGD:13592920
Posthemorrhagic Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcan brevican JBrowse link 2 187,359,674 187,373,133 RGD:6483013
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483013
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
VACTERL/VATER Association with Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baz1a bromodomain adjacent to zinc finger domain, 1A JBrowse link 6 75,793,223 75,873,854 RGD:8554872
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:11554173
RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:8554872
RGD:7240710
X-Linked Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483012
RGD:8554872
RGD:11554173
RGD:6483078
RGD:7240710
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            hydrocephalus 91
              Aase Smith Syndrome 0
              Baker Vinters Syndrome 0
              Beemer Ertbruggen Syndrome 0
              Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
              Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 1
              Clark-Baraitser Syndrome 0
              Cole-Carpenter syndrome + 2
              Daentl Towsend Siegel Syndrome 0
              Daish Hardman Lamont Syndrome 0
              Dandy-Walker syndrome + 16
              De Hauwere syndrome 0
              Edinburgh Malformation Syndrome 0
              Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
              Game Friedman Paradice Syndrome 0
              HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES 1
              Hydrocephalus with Cerebellar Agenesis 0
              Hydrocephalus, Autosomal Dominant 0
              Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
              Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
              Iris Dysplasia Hypertelorism Deafness 0
              Kozlowski Brown Hardwick Syndrome 0
              Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 9
              Nonsyndromic Hydrocephalus, Autosomal Recessive 2 2
              Palmer Pagon Syndrome 0
              Posthemorrhagic Hydrocephalus 2
              Radius Absent Anogenital Anomalies 0
              Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
              Schwartz Cohen-Addad Lambert Syndrome 0
              Thoracic Dysplasia-Hydrocephalus Syndrome 0
              VACTERL/VATER Association with Hydrocephalus 4
              Ventriculomegaly With Defects Of The Radius And Kidney 0
              Waaler Aarskog Syndrome 0
              X-Linked Hydrocephalus + 1
              Yim Ebbin Syndrome 0
              communicating hydrocephalus + 2
              cystic kidney disease with ventriculomegaly 1
              hydrolethalus syndrome + 3
              normal pressure hydrocephalus + 2
              obstructive hydrocephalus 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            cerebral degeneration 195
              hydrocephalus 91
                Aase Smith Syndrome 0
                Baker Vinters Syndrome 0
                Beemer Ertbruggen Syndrome 0
                Bor-Duane Hydrocephalus Contiguous Gene Syndrome 0
                Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 1
                Clark-Baraitser Syndrome 0
                Cole-Carpenter syndrome + 2
                Daentl Towsend Siegel Syndrome 0
                Daish Hardman Lamont Syndrome 0
                Dandy-Walker syndrome + 16
                De Hauwere syndrome 0
                Edinburgh Malformation Syndrome 0
                Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 0
                Game Friedman Paradice Syndrome 0
                HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES 1
                Hydrocephalus with Cerebellar Agenesis 0
                Hydrocephalus, Autosomal Dominant 0
                Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 0
                Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 0
                Iris Dysplasia Hypertelorism Deafness 0
                Kozlowski Brown Hardwick Syndrome 0
                Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome + 9
                Nonsyndromic Hydrocephalus, Autosomal Recessive 2 2
                Palmer Pagon Syndrome 0
                Posthemorrhagic Hydrocephalus 2
                Radius Absent Anogenital Anomalies 0
                Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
                Schwartz Cohen-Addad Lambert Syndrome 0
                Thoracic Dysplasia-Hydrocephalus Syndrome 0
                VACTERL/VATER Association with Hydrocephalus 4
                Ventriculomegaly With Defects Of The Radius And Kidney 0
                Waaler Aarskog Syndrome 0
                X-Linked Hydrocephalus + 1
                Yim Ebbin Syndrome 0
                communicating hydrocephalus + 2
                cystic kidney disease with ventriculomegaly 1
                hydrolethalus syndrome + 3
                normal pressure hydrocephalus + 2
                obstructive hydrocephalus 1
paths to the root

NHLBI Logo

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