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DO Term : Miller-Dieker lissencephaly syndrome [DOID:0060469] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.

synonyms:
MDS,
OMIM:247200,
ORDO:531,
MESH:D054221,
Miller-Dieker syndrome,
UMLS_CUI:C0265219,
ICD10CM:Q93.88,
SNOMEDCT_US_2023_03_01:253148005,
NCI:C124852,
247200

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

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