Preferred Name | Adenine phosphoribosyltransferase deficiency | |
Synonyms |
2,8 dihydroxyadenine urolithiasis APRT deficiency |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_775 |
|
ageOfDeath |
Normal |
|
ageOfOnset |
Variable |
|
altLabel |
2,8 dihydroxyadenine urolithiasis APRT deficiency |
|
id_Medline | ||
id_MIM |
614723 |
|
id_OMS |
E79.8 |
|
id_Orpha |
976 |
|
inheritance |
Autosomal recessive |
|
patType |
disease |
|
prefixIRI |
hrdo:pat_id_775 |
|
prefLabel |
Adenine phosphoribosyltransferase deficiency |
|
prevalence |
1-9 / 100 000 |
|
subClassOf |
Create mapping