Preferred Name

Lissencephaly 3

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C148461

code

C148461

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

An autosomal dominant sub-type of lissencephaly caused by mutation(s) in the TUBA1A gene, encoding adhesion tubulin alpha-1A chain.

FULL_SYN

Lissencephaly 3

LIS3

label

Lissencephaly 3

Preferred_Name

Lissencephaly 3

prefixIRI

Thesaurus:C148461

prefLabel

Lissencephaly 3

Semantic_Type

Disease or Syndrome

UMLS_CUI

C1969029

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84640

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http://purl.obolibrary.org/obo/DOID_0112232 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/611603 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C566908 Medical Subject Headings / 医学主题词表 LOOM