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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 OCLN 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: OMIM:251290
 alt_id: MESH:C537905
 xref: GARD:12426;   ORDO:1229
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:251290
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Band-like calcification with simplified gyration and polymicrogyria
OMIM
ClinVar
PMID:18414213, PMID:19012351, PMID:20727516, PMID:25741868 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Pseudo-TORCH Syndrome 3
        pseudo-TORCH syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                complex cortical dysplasia with other brain malformations 750
                  Malformations of Cortical Development, Group I 605
                    microcephaly 439
                      pseudo-TORCH syndrome 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.