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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:Schizencephaly
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Accession:DOID:9006637 term browser browse the term
Definition:Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures. Some patients with schizencephaly have mutations in the EMX2, SIX3, or SHH genes.
Synonyms:exact_synonym: Schizencephalic Cleft;   Schizencephalic Cyst;   familial schizencephaly;   schizencephalic clefts;   schizencephalic cysts;   schizencephalies
 primary_id: MESH:D065707
 alt_id: MESH:C538514;   OMIM:269160
For additional species annotation, visit the Alliance of Genome Resources.


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Schizencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chrNW_004624793:2,325,104...2,426,814 JBrowse link
G V COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057
JBrowse link
G P COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr11:76,858,332...76,997,409 JBrowse link
G S Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G D COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
JBrowse link
G B COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
JBrowse link
G C Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074
JBrowse link
G R Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G M Col4a1 collagen, type IV, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr 8:11,198,423...11,312,889
Ensembl chr 8:11,198,423...11,312,826
JBrowse link
G H COL4A1 collagen type IV alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G M Emx2 empty spiracles homeobox 2 ISO OMIM NCBI chrNW_004624737:29,103,378...29,110,356 JBrowse link
G V EMX2 empty spiracles homeobox 2 ISO OMIM NCBI chr 9:110,347,043...110,353,647
Ensembl chr 9:110,347,379...110,353,643
JBrowse link
G P EMX2 empty spiracles homeobox 2 ISO OMIM NCBI chr14:127,649,675...127,656,972
Ensembl chr14:127,650,688...127,655,706
JBrowse link
G S Emx2 empty spiracles homeobox 2 ISO OMIM NCBI chrNW_004936486:7,313,689...7,319,971 JBrowse link
G D EMX2 empty spiracles homeobox 2 ISO OMIM NCBI chr28:28,002,966...28,009,955
Ensembl chr28:28,003,710...28,009,035
JBrowse link
G B EMX2 empty spiracles homeobox 2 ISO OMIM NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972
JBrowse link
G C Emx2 empty spiracles homeobox 2 ISO OMIM NCBI chrNW_004955431:22,192,446...22,199,141
Ensembl chrNW_004955431:22,192,446...22,199,279
JBrowse link
G R Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Schizencephaly ClinVar
OMIM
PMID:8528262 PMID:9359037 NCBI chr 1:280,633,938...280,640,946
Ensembl chr 1:280,633,938...280,640,946
JBrowse link
G M Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Schizencephaly ClinVar
OMIM
PMID:8528262 PMID:9359037 NCBI chr19:59,458,690...59,465,357
Ensembl chr19:59,458,372...59,465,357
JBrowse link
G H EMX2 empty spiracles homeobox 2 IAGP ClinVar Annotator: match by term: Schizencephaly ClinVar
OMIM
PMID:8528262 PMID:9359037 NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546
JBrowse link
G M Shh sonic hedgehog signaling molecule ISO OMIM NCBI chrNW_004624800:2,202,986...2,215,309 JBrowse link
G V SHH sonic hedgehog signaling molecule ISO OMIM NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395
JBrowse link
G P SHH sonic hedgehog signaling molecule ISO OMIM NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G S Shh sonic hedgehog signaling molecule ISO OMIM NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G D SHH sonic hedgehog signaling molecule ISO OMIM NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G B SHH sonic hedgehog signaling molecule ISO OMIM NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G C Shh sonic hedgehog signaling molecule ISO OMIM NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G R Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: SCHIZENCEPHALY
ClinVar Annotator: match by term: Schizencephaly
OMIM
ClinVar
PMID:9302262 PMID:10556296 PMID:12709790 PMID:18655123 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G M Shh sonic hedgehog ISO ClinVar Annotator: match by term: SCHIZENCEPHALY
ClinVar Annotator: match by term: Schizencephaly
OMIM
ClinVar
PMID:9302262 PMID:10556296 PMID:12709790 PMID:18655123 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G H SHH sonic hedgehog signaling molecule IAGP ClinVar Annotator: match by term: SCHIZENCEPHALY
ClinVar Annotator: match by term: Schizencephaly
OMIM
ClinVar
PMID:9302262 PMID:10556296 PMID:12709790 PMID:18655123 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G M Six3 SIX homeobox 3 ISO OMIM NCBI chrNW_004624738:26,379,172...26,391,669 JBrowse link
G V SIX3 SIX homeobox 3 ISO OMIM NCBI chr14:62,278,124...62,292,942 JBrowse link
G P SIX3 SIX homeobox 3 ISO OMIM NCBI chr 3:95,521,330...95,527,004
Ensembl chr 3:95,521,333...95,525,436
JBrowse link
G S Six3 SIX homeobox 3 ISO OMIM NCBI chrNW_004936508:7,103,578...7,106,588 JBrowse link
G D SIX3 SIX homeobox 3 ISO OMIM NCBI chr10:47,332,875...47,369,359
Ensembl chr10:47,332,888...47,343,635
JBrowse link
G B SIX3 SIX homeobox 3 ISO OMIM NCBI chr2A:45,038,634...45,072,867 JBrowse link
G C Six3 SIX homeobox 3 ISO OMIM NCBI chrNW_004955441:11,966,389...11,978,545
Ensembl chrNW_004955441:11,966,389...11,979,466
JBrowse link
G R Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Schizencephaly
ClinVar Annotator: match by term: SCHIZENCEPHALY
ClinVar
OMIM
PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
G M Six3 sine oculis-related homeobox 3 ISO ClinVar Annotator: match by term: Schizencephaly
ClinVar Annotator: match by term: SCHIZENCEPHALY
ClinVar
OMIM
PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 NCBI chr17:85,613,608...85,626,191
Ensembl chr17:85,613,608...85,629,302
JBrowse link
G H SIX3 SIX homeobox 3 IAGP ClinVar Annotator: match by term: Schizencephaly
ClinVar Annotator: match by term: SCHIZENCEPHALY
ClinVar
OMIM
PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 116979
    disease of anatomical entity 112926
      nervous system disease 90900
        Nervous System Malformations 11891
          complex cortical dysplasia with other brain malformations 9289
            Schizencephaly 32
Path 2
Term Annotations click to browse term
  disease 116979
    Developmental Disease 83056
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 68997
        genetic disease 65376
          monogenic disease 49994
            autosomal genetic disease 43374
              autosomal dominant disease 70285
                complex cortical dysplasia with other brain malformations 9289
                  Malformations of Cortical Development, Group III 166
                    Schizencephaly 32
paths to the root