Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

lissencephaly
Synonyms
Definitions

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

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

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

MESH:D054082

SNOMEDCT_US_2023_03_01:204036008

ICD10CM:Q04.3

ORDO:102009

UMLS_CUI:C0266483

SNOMEDCT_US_2023_03_01:23024003

MIM:PS607432

NCI:C103921

UMLS_CUI:C0266463

GARD:12291
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#NCIthesaurus

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

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
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/DOID_0050453 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_0050453 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050453 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050453 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050453 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085540 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/204036008 SNOMEDCT LOOM
http://radlex.org/RID/RID3766 RADLEX LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037613 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054082 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0001339 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0001339 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001339 HP LOOM
http://purl.obolibrary.org/obo/HP_0001339 UPHENO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050453 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10627 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D054082 MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Lissencephaly PEDTERM LOOM
http://purl.obolibrary.org/obo/NCIT_C103921 BERO LOOM
http://purl.jp/bio/4/id/200906083638079371 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0266463 OCHV LOOM
http://purl.org/obo/owl/HP#HP_0001339 BDO LOOM
http://purl.bioontology.org/ontology/RCD/P223. RCD LOOM
http://purl.obolibrary.org/obo/OMIT_0025671 OMIT LOOM
http://nanbyodata.jp/ontology/NANDO_2200817 NANDO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1771 IFAR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.507.186 RH-MESH LOOM
http://www.case.edu/EpilepsyOntology.owl#Lissencephaly EPSO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048911 MEDDRA LOOM
rgo:07513 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.507.249 RH-MESH LOOM
http://www.case.edu/EpSO.owl#Lissencephaly MEPO LOOM
http://www.orpha.net/ORDO/Orphanet_48471 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103921 NCIT LOOM
http://www.gamuts.net/entity#lissencephaly GAMUTS REST