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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

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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 ClinVar Annotator: match by term: SCHIZENCEPHALY ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		JBrowse link
G EMX2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Schizencephaly OMIM
ClinVar		 PMID:8528262 PMID:9359037 NCBI chr 9:110,347,043...110,353,647
Ensembl chr 9:110,347,379...110,353,643 		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 chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395 		JBrowse link
G SIX3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Schizencephaly OMIM
ClinVar		 PMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 More... NCBI chr14:62,278,124...62,292,942
Ensembl chr14:62,278,461...62,281,127 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        Nervous System Malformations 2412
          complex cortical dysplasia with other brain malformations 1621
            Schizencephaly 4
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        genetic disease 12270
          monogenic disease 10479
            autosomal genetic disease 10029
              autosomal dominant disease 6476
                complex cortical dysplasia with other brain malformations 1621
                  Malformations of Cortical Development, Group III 26
                    Schizencephaly 4
paths to the root