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DO Term : severe congenital encephalopathy due to MECP2 mutation [DOID:0111932] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.
  • synonyms:
  • 300673,
  • SNOMEDCT_US_2023_03_01:711487002,
  • MESH:C566878,
  • ORDO:209370,
  • NCI:C132293,
  • OMIM:300673,
  • neonatal severe encephalopathy due to MECP2 mutations,
  • UMLS_CUI:C1968556,
  • severe neonatal-onset encephalopathy with microcephaly
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