Preferred Name

Aicardi Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35256

code

C35256

DEFINITION

A sporadic genetic syndrome characterized by agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. It is associated with the presence of choroid plexus neoplasms in the brain.

FULL_SYN

Aicardi Syndrome

label

Aicardi Syndrome

Legacy Concept Name

Aicardi_Syndrome

Preferred_Name

Aicardi Syndrome

prefixIRI

Thesaurus:C35256

prefLabel

Aicardi Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0175713

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_50 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/DOID_8461 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_8461 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D058540 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/304050 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0010568 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010568 Experimental Factor Ontology / 实验性因素本体 LOOM