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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:pseudo-TORCH syndrome 1
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Accession:DOID:0050656 term browser browse the term
Definition:A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. (DO)
Synonyms:exact_synonym: BLC-PMG;   BLCPMG;   Baraitser-Brett-Piesowicz syndrome;   Baraitser-Reardon syndrome;   Microcephaly intracranial calcification;   PTORCH1;   band-like calcification with simplified gyration and polymicrogyria;   bilateral band-like calcification with polymicrogyria;   microcephaly-intracranial calcification-intellectual disability syndrome
 primary_id: MIM:251290
 alt_id: MESH:C537905
 xref: GARD:12426;   ORDO:1229


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pseudo-TORCH syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocln occludin ISO ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 OMIM
ClinVar		 PMID:18414213 PMID:19012351 PMID:20727516 PMID:25558065 PMID:25741868 More... NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      Pseudo-TORCH Syndrome 3
        pseudo-TORCH syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal dominant disease 6533
                complex cortical dysplasia with other brain malformations 1633
                  Malformations of Cortical Development, Group I 1393
                    microcephaly 1143
                      pseudo-TORCH syndrome 1 1
paths to the root