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DO Term : polyhydramnios, megalencephaly, and symptomatic epilepsy [DOID:0070511] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3.
  • synonyms:
  • ORDO:500533,
  • SNOMEDCT_US_2023_03_01:1167371007,
  • PMSE,
  • OMIM:611087,
  • GARD:12913,
  • Pretzel syndrome,
  • MESH:C567020,
  • 611087,
  • PMSE syndrome,
  • UMLS_CUI:C1970203
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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents