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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
 xref: MESH:C538514;   MESH:D065707;   MIM:269160;   MONDO:0010011;   NCI:C99056


show annotations for term's descendants           Sort by:
Schizencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHIZENCEPHALY		 CTD
ClinVar		 PMID:23225343 PMID:25741868 PMID:28492532 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G EMX2 empty spiracles homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Schizencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:8528262 PMID:9359037 NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546 		JBrowse link
G EMX2OS EMX2 opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Schizencephaly ClinVar NCBI chr10:117,484,293...117,545,068
Ensembl chr10:117,473,213...117,545,068 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP
EXP		 ClinVar Annotator: match by term: Schizencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9302262 PMID:10556296 PMID:12709790 PMID:15292211 PMID:18655123 More... NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SIX3 SIX homeobox 3 IAGP
EXP		 ClinVar Annotator: match by term: Schizencephaly
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 More... 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 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        Nervous System Malformations 3238
          complex cortical dysplasia with other brain malformations 2223
            Schizencephaly 5
Path 2
Term Annotations click to browse term
  disease 97387
    Developmental Disease 35248
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28731
        genetic disease 27244
          monogenic disease 20029
            autosomal genetic disease 18729
              autosomal dominant disease 11898
                complex cortical dysplasia with other brain malformations 2223
                  Malformations of Cortical Development, Group III 33
                    Schizencephaly 5
paths to the root