FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Miller-Dieker lissencephaly syndrome
Synonyms
Definitions

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

ID

http://purl.obolibrary.org/obo/DOID_0060469

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Miller-Dieker lissencephaly syndrome

prefixIRI

DOID:0060469

prefLabel

Miller-Dieker lissencephaly syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225

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