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DO Term : pseudo-TORCH syndrome 1 [DOID:0050656] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • band-like calcification with simplified gyration and polymicrogyria,
  • 251290,
  • Baraitser-Brett-Piesowicz syndrome,
  • PTORCH1,
  • GARD:12426,
  • Baraitser-Reardon syndrome,
  • OMIM:251290,
  • ORDO:1229,
  • bilateral band-like calcification with polymicrogyria,
  • BLCPMG,
  • BLC-PMG,
  • microcephaly-intracranial calcification-intellectual disability syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents