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Disease Ontology Browser
Miller-Dieker lissencephaly syndrome (DOID:0060469)
Synonyms: MDS; Miller-Dieker syndrome
Alt IDs: OMIM:247200, ICD10CM:Q04.3, ORDO:531, UMLS_CUI:C0265219
Definition: A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.

Disease References using Mouse Models (7)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/11/2017
MGI 6.08
The Jackson Laboratory