adenine phosphoribosyltransferase deficiency English (Q4682223)
An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. English
| Language | Label | Description | Also known as |
|---|---|---|---|
| British English | No label defined |
No description defined |
Statements
614723
1 reference
Q162606 (Deleted Item)
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976
mapping relation type English
exact match English
Q18558086 (Deleted Item)
2 references
Q55788557 (Deleted Item)
Q55788855 (Deleted Item)
Q112193769 (Deleted Item)
0 references
DOID:0060350
1 reference
NCI Thesaurus ID English
C121564
1 reference
1 reference
1 reference
Q16335166 (Deleted Item)
Q929833 (Deleted Item)
0 references
Q112193867 (Deleted Item)
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UMLS CUI English
C0268120
1 reference
C3665382
1 reference
546
1 reference
10666
2 references
C538228
mapping relation type English
exact match English
C538228
1 reference
ICD-10-CM English
genetic association English
Q14878325 (Deleted Item)
2 references
Q24561674 (Deleted Item)
adenine-phosphoribosyltransferase-deficiency
0 references
2779454394
0 references
KEGG ID English
H00195
0 references