Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

lissencephaly

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.

ID

http://purl.obolibrary.org/obo/DOID_0050453

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

ORDO:102009

SNOMEDCT_US_2022_09_01:23024003

NCI:C103921

UMLS_CUI:C0266463

GARD:12291

MESH:D054082

SNOMEDCT_US_2022_09_01:204036008

UMLS_CUI:C0266483

OMIM:PS607432

ICD10CM:Q04.3

definition

A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.

disease has location

http://purl.obolibrary.org/obo/UBERON_0000956

has_obo_namespace

disease_ontology

id

DOID:0050453

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

lissencephaly

notation

DOID:0050453

prefLabel

lissencephaly

subClassOf

http://purl.obolibrary.org/obo/DOID_2490

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0001339 Human Phenotype Ontology LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103921 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D054082 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037613 Online Mendelian Inheritance in Man LOOM