loading...| Preferred Name |
Leber congenital amaurosis |
|
| Synonyms |
Amaurosis congénita de Leber Leber, amaurose congénita de Amaurosis congenita of Leber |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_3243 |
|
| ageOfDeath |
Normal Normal Normal Normale Normal Normal Normal |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
Amaurosis congénita de Leber Leber, amaurose congénita de Amaurosis congenita of Leber Amaurose congénita de Leber |
|
| id_Medline | ||
| id_MeSH |
D057130 |
|
| id_MIM |
179900 204000 204100 604232 604393 604537 608553 610612 611755 612712 613341 613826 613829 613835 613837 613843 614186 |
|
| id_OMS |
H35.5 |
|
| id_Orpha |
65 |
|
| id_SNOMEDCT |
193413001 |
|
| id_UMLS |
C0339527 |
|
| inheritance |
Autosómico recesivo Autosomal recessive Autosomal dominant Autosomique dominant Autossómica recessiva Autosomica recessiva Autosomal dominant Autosomica dominante Autosomal recessive Autosómico dominate Autosomal-dominant Autosomique récessif Autossómica dominante Autosomal-rezessiv |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_3243 |
|
| prefLabel |
Amaurosis congénita de Leber Amaurosis congenita Leber Amaurosi congenita di Leber Amaurose congénita de Leber Amaurose congénitale de Leber Leber congenital amaurosis |
|
| prevalence |
1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 |
|
| subClassOf |