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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
 broad_synonym: SIX3-RELATED CONDITION
 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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHIZENCEPHALY		 CTD
ClinVar		 PMID:23225343 PMID:25741868 PMID:28492532 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412 		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 chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594 		JBrowse link
G Emx2os Emx2 opposite strand/antisense RNA ISO ClinVar Annotator: match by term: Schizencephaly ClinVar NCBI chr 1:258,569,637...258,626,810 JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Schizencephaly ClinVar PMID:9302262 PMID:10556296 PMID:12709790 PMID:15292211 PMID:18655123 More... NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Six3 SIX 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 chr 6:14,791,937...14,796,365
Ensembl chr 6:9,036,434...9,053,301 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Nervous System Malformations 2464
          complex cortical dysplasia with other brain malformations 1643
            Schizencephaly 5
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1643
                  Malformations of Cortical Development, Group III 30
                    Schizencephaly 5
paths to the root