Visualize Submit Comment
Metadata
ID DOID:0060469
Name Miller-Dieker lissencephaly syndrome
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.
http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome, https://en.wikipedia.org/wiki/Miller-Dieker_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/21239872, https://www.ncbi.nlm.nih.gov/pubmed/9473821
Xrefs

ICD10CM:Q93.88

MESH:D054221

NCI:C124852

OMIM:247200

ORDO:531

SNOMEDCT_US_2020_03_01:253148005

UMLS_CUI:C0265219

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

MDS [EXACT]

Miller-Dieker syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

Add an item to the term tracker