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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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHIZENCEPHALY		 CTD
ClinVar		 PMID:23225343 PMID:25741868 PMID:28492532 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Schizencephaly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8528262 PMID:9359037 NCBI chr19:59,447,122...59,453,789
Ensembl chr19:59,446,804...59,453,789 		JBrowse link
G Emx2os Emx2 opposite strand/antisense transcript, non-protein coding ISO ClinVar Annotator: match by term: Schizencephaly ClinVar NCBI chr19:59,413,536...59,447,067
Ensembl chr19:59,383,296...59,448,147 		JBrowse link
G Shh sonic hedgehog ISO 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 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Six3 sine oculis-related homeobox 3 ISO ClinVar Annotator: match by term: Schizencephaly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 More... NCBI chr17:85,921,036...85,933,619
Ensembl chr17:85,921,036...85,936,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      nervous system disease 13766
        Nervous System Malformations 2463
          complex cortical dysplasia with other brain malformations 1644
            Schizencephaly 5
Path 2
Term Annotations click to browse term
  disease 16225
    Developmental Disease 14002
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13025
        genetic disease 12715
          monogenic disease 10849
            autosomal genetic disease 10360
              autosomal dominant disease 6713
                complex cortical dysplasia with other brain malformations 1644
                  Malformations of Cortical Development, Group III 29
                    Schizencephaly 5
paths to the root