Arthrogryposis - renal dysfunction - cholestasis
|
(Orphanet:2697)
|
Cystinosis
|
(Orphanet:213)
|
Dent disease type 1
|
(Orphanet:93622)
|
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
|
(Orphanet:244305)
|
FANCONI RENOTUBULAR SYNDROME 3
|
(OMIM:615605)
|
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THEYOUNG
|
(OMIM:616026)
|
Glycogen storage disease due to GLUT2 deficiency
|
(Orphanet:2088)
|
Hereditary fructose intolerance
|
(Orphanet:469)
|
Hypophosphatemic rickets, autosomal recessive, 2
|
(OMIM:613312)
|
Isolated cytochrome C oxidase deficiency
|
(Orphanet:254905)
|
Linear nevus sebaceus syndrome
|
(Orphanet:2612)
|
Metaphyseal chondrodysplasia, Jansen type
|
(Orphanet:33067)
|
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1
|
(OMIM:612286)
|
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
|
(OMIM:612287)
|
Neonatal severe primary hyperparathyroidism
|
(Orphanet:417)
|
Oculocerebrorenal syndrome
|
(Orphanet:534)
|
Tyrosinemia type 1
|
(Orphanet:882)
|
Wilson disease
|
(Orphanet:905)
|