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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Id | http://www.limics.org/hrdo/rdfns#pat_id_611
http://www.limics.org/hrdo/rdfns#pat_id_611
|
|---|---|
| Preferred Name | Phenylketonuria |
| Synonyms |
PKU
Phenylalanine hydroxylase deficiency
PAH deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PKU
Phenylalanine hydroxylase deficiency
PAH deficiency
|
|---|---|
| prefLabel |
Phenylketonuria
|
| id_MIM |
261600
|
| prevalence |
1-5 / 10 000
|
| inheritance |
Autosomal recessive
|
| id_UMLS |
C0031485
|
| id_OMS |
E70.0
E70.1
|
| prefixIRI |
hrdo:pat_id_611
|
| id_Orpha |
716
|
| subClassOf | |
| patType |
disease
|
| id_MedDRA |
10034872
|
| id_MeSH |
D010661
|
| type | |
| id_Medline | |
| ageOfOnset |
Neonatal/infancy
|
| ageOfDeath |
Normal
|
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