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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 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 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 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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        Nervous System Malformations 1053
          complex cortical dysplasia with other brain malformations 716
            Schizencephaly 4
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            autosomal genetic disease 4877
              autosomal dominant disease 3159
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group III 20
                    Schizencephaly 4
paths to the root