loading...| Preferred Name |
Hermansky-Pudlak syndrome |
|
| Synonyms |
HPS |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_11456 |
|
| ageOfDeath |
Cualquier edad Alle Alter Qualquer idade Tout âge Any age Qualsiasi età Any age |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
HPS HPS HPS SHP HPS |
|
| id_Medline |
neant |
|
| id_MIM |
203300 608233 614072 614073 614074 614075 614076 614077 614171 |
|
| id_OMS |
E70.3 |
|
| id_Orpha |
79430 |
|
| id_SNOMEDCT |
9311003 |
|
| inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_11456 |
|
| prefLabel |
Síndrome de Hermansky-Pudlak Hermansky-Pudlak syndrome Sindrome di Hermansky-Pudlak Syndrome d'Hermansky-Pudlak Síndrome de Hermansky-Pudlak Hermansky-Pudlak-Syndrom |
|
| prevalence |
1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 |
|
| subClassOf |