loading...| Preferred Name |
Hawkinsinuria |
|
| Synonyms |
4-alpha-Hydroxyphenylpyruvat- Hydroxylase-Mangel Deficit di 4-alfa-idrossifenilpiruvato idrossilasi 4-hydroxyphenylpyruvic acid dioxygenase deficiency |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_503 |
|
| ageOfDeath |
No data available Não há dados disponíveis Nessun dato disponibile Keine Daten verfügbar No data available No se dispone de datos Non documenté |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
4-alpha-Hydroxyphenylpyruvat- Hydroxylase-Mangel Deficit di 4-alfa-idrossifenilpiruvato idrossilasi 4-hydroxyphenylpyruvic acid dioxygenase deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency Deficiência de 4-alfa-hidroxifenilpiruvato hidroxilase 4-alpha-Hydroxyphenylpyruvat-Dioxygenase-Mangel Déficit de 4-alfa-hidroxifenilpiruvato hidroxilasa Déficit en 4-hydroxyphénylpyruvate dioxygénase Déficit en 4-alpha-hydroxyphénylpyruvate hydroxylase 4-HPPD-Mangel 4-alfa-hidroxifenilpiruvato hidroxilase, deficiência de 4-HPPD deficiency Déficit en 4-HPPD |
|
| id_MeSH |
C535845 |
|
| id_MIM |
140350 |
|
| id_OMS |
E70.2 |
|
| id_Orpha |
2118 |
|
| id_SNOMEDCT |
414380008 |
|
| id_UMLS |
C2931042 |
|
| inheritance |
Autosomal dominant Autosomique dominant Autosomal dominant Autosomica dominante Autosómico dominate Autosomal-dominant Autossómica dominante |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_503 |
|
| prefLabel |
Hawkinsinuria Hawkinsinuria Hawkinsinúria Hawkinsinurie Hawkinsinurie Hawkinsinuria |
|
| prevalence |
Inconnu Unknown Unknown Desconocido Unbekannt Desconhecido Sconosciuto |
|
| subClassOf |