loading...| Preferred Name |
Aicardi syndrome |
| Synonyms |
Aicardi syndrome, X-linked dominant corpus callosum, agenesis of, with chorioretinal Abnormality agenesis of corpus callosum with chorioretinal abnormality Aicardi syndrome AIC corpus callosum agenesis of with chorioretinal abnormality |
| Definitions |
Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0010568 |
| closeMatch | |
| database_cross_reference |
GARD:0005764 Orphanet:50 SCTID:80651009 MedDRA:10054935 NCIT:C35256 DOID:8461 OMIM:304050 MESH:D058540 UMLS:C0175713 |
| definition |
Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C35256 http://purl.obolibrary.org/obo/DOID_8461 http://purl.obolibrary.org/obo/Orphanet_50 http://linkedlifedata.com/resource/umls/id/C0175713 |
| has_exact_synonym |
Aicardi syndrome, X-linked dominant agenesis of corpus callosum with chorioretinal abnormality Aicardi syndrome corpus callosum agenesis of with chorioretinal abnormality |
| has_related_synonym |
corpus callosum, agenesis of, with chorioretinal Abnormality AIC |
| IAO_0000233 | |
| id |
MONDO:0010568 |
| in_subset | |
| label |
Aicardi syndrome |
| notation |
MONDO:0010568 |
| prefLabel |
Aicardi syndrome |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0021147 http://purl.obolibrary.org/obo/MONDO_0002254 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021147 http://purl.obolibrary.org/obo/MONDO_0002254 |
| excluded subClassOf |