loading...| Preferred Name |
Aicardi syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_50 |
| alternative_term |
Agenesis of corpus callosum with chorioretinal abnormality |
| definition |
A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
X-linked dominant |
| hasDbXref |
MedDRA:10054935 MeSH:D058540 ICD-10:Q04.0 ICD-11:LD20.Y UMLS:C0175713 OMIM:304050 |
| label |
Aicardi syndrome |
| notation |
ORPHA:50 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_166478 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_519325 http://www.orpha.net/ORDO/Orphanet_199639 http://www.orpha.net/ORDO/Orphanet_269573 |
| prefixIRI |
ORDO:Orphanet_50 |
| prefLabel |
Aicardi syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Netherlands AND has_birth_prevalence_average_value : 1.07 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.95 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_166478 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_519325 http://www.orpha.net/ORDO/Orphanet_199639 http://www.orpha.net/ORDO/Orphanet_269573 |
| subClassOf |