loading...| Preferred Name |
Hyperphenylalaninemia |
|
| Synonyms |
Iperfenilalaninemia da deficit di BH4 Iperfenilalaninemia da deficit di tetraidrobiopterina Hiperfenilalaninemia debida al déficit de BH4 Hyperphénylalaninémie due au déficit en tétrahydrobioptérine Hyperphenylalaninemia due to tetrahydrobiopterin deficiency |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_19279 |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
Iperfenilalaninemia da deficit di BH4 Iperfenilalaninemia da deficit di tetraidrobiopterina Hiperfenilalaninemia debida al déficit de BH4 Hyperphénylalaninémie due au déficit en tétrahydrobioptérine Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninämie, nicht-phenylketonurische Hiperfenilalaninemia debida al déficit de tetrahidrobiopterina Hyperphenylalaninemia due to BH4 deficiency Hyperphénylalaninémie non phénylcétonurique Iperfenilalaninemia non fenilchetonurica Hiperfenilalaninemia no fenilcetonúrica Hyperphenylalaninämie durch Tetrahydrobiopterin-Mangel Hyperphénylalaninémie due au déficit en BH4 Nonphenylketonuric hyperphenylalaninemia Hyperphenylalaninämie durch BH4-Mangel |
|
| id_Medline |
neant |
|
| id_MIM |
233910 261630 261640 264070 |
|
| id_OMS |
E70.1 |
|
| id_Orpha |
238583 |
|
| id_SNOMEDCT |
68528007 |
|
| id_UMLS |
C0751436 |
|
| inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_19279 |
|
| prefLabel |
Hiperfenilalaninemia Iperfenilalaninemia Hyperphenylalaninemia Hyperphénylalaninémie Hiperfenilalaninemia Hyperphenylalaninämie |
|
| subClassOf |