Pediatric Terminology

Last uploaded: January 25, 2013
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Preferred Name

Lissencephaly
Synonyms
ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Lissencephaly
ID

C84640
NCI_Definition

A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation.
NCI_PT

Classical Lissencephaly
NICHD_Definition

_
prefixIRI

Lissencephaly
prefLabel

Lissencephaly
Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology
SYN

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Abnormality_of_the_Nervous_System
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http://purl.obolibrary.org/obo/DOID_0050453 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050453 DOID 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://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