FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Miller-Dieker lissencephaly syndrome ID (Ontology) DOID:0060469 (Human Disease)
Definition A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.
Also Known As "MDS" ; "Miller-Dieker syndrome"
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Miller-Dieker lissencephaly syndrome
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "MDS" EXACT OMO:0003012
    "Miller-Dieker syndrome" EXACT
Secondary IDs
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ICD10CM:Q93.88
MESH:D054221
MIM:247200
NCI:C124852
ORDO:531
SNOMEDCT_US_2023_03_01:253148005
UMLS_CUI:C0265219