Pseudo-Torch Syndrome 1
Disease ID: disease_node_20356
Connections displayed (default: 10).
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| Dbxref | GARD:12426, MIM:251290, ORDO:1229 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | BLC-PMG, BLCPMG, Baraitser-Brett-Piesowicz syndrome, Baraitser-Reardon syndrome, PTORCH1, band-like calcification with simplified gyration and polymicrogyria, bilateral band-like calcification with polymicrogyria, microcephaly-intracranial calcification-intellectual disability syndrome |
| Doid Label | pseudo-TORCH syndrome 1 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20356 |
| Doid Id | DOID_0050656 |
| Label | Pseudo-Torch Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)