Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Miller-Dieker lissencephaly syndrome
Synonyms

MDLS

Definitions

(MDLS) - A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition.

ID

http://identifiers.org/omim/247200

altLabel

MDLS

definition

(MDLS) - A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition.

id

OMIM:247200

notation

OMIM:247200

prefLabel

Miller-Dieker lissencephaly syndrome

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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