loading...| Preferred Name |
pseudo-TORCH syndrome 1 |
|
| Synonyms |
Baraitser-Brett-Piesowicz syndrome |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050656 |
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| database_cross_reference |
OMIM:251290 GARD:12426 ORDO:1229 |
|
| 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. |
|
| has exact synonym |
Baraitser-Brett-Piesowicz syndrome BLC-PMG BLCPMG bilateral band-like calcification with polymicrogyria band-like calcification with simplified gyration and polymicrogyria Baraitser-Reardon syndrome PTORCH1 microcephaly-intracranial calcification-intellectual disability syndrome |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050656 |
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| in_subset | ||
| label |
pseudo-TORCH syndrome 1 |
|
| notation |
DOID:0050656 |
|
| prefLabel |
pseudo-TORCH syndrome 1 |
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| subClassOf |