2-aminoadipic 2-oxoadipic aciduria
|
(Orphanet:79154)
|
3-hydroxyisobutyric aciduria
|
(Orphanet:939)
|
AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS
|
(OMIM:204730)
|
Alpers syndrome
|
(Orphanet:726)
|
Alpha-N-acetylgalactosaminidase deficiency type 2
|
(Orphanet:79280)
|
Argininemia
|
(Orphanet:90)
|
Argininosuccinic aciduria
|
(Orphanet:23)
|
BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF
|
(OMIM:210100)
|
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY
|
(OMIM:210550)
|
Carbamoylphosphate synthetase deficiency
|
(Orphanet:147)
|
Classic galactosemia
|
(Orphanet:79239)
|
Classical phenylketonuria
|
(Orphanet:79254)
|
Combined oxidative phosphorylation defect type 14
|
(Orphanet:319519)
|
Cystinosis
|
(Orphanet:213)
|
Cystinuria
|
(Orphanet:214)
|
D-glyceric aciduria
|
(Orphanet:941)
|
Dent disease type 1
|
(Orphanet:93622)
|
Dent disease type 2
|
(Orphanet:93623)
|
Dicarboxylic aminoaciduria
|
(Orphanet:2195)
|
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY
|
(OMIM:614520)
|
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
|
(Orphanet:1035)
|
Encephalopathy due to hydroxykynureninuria
|
(Orphanet:79155)
|
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THEYOUNG
|
(OMIM:616026)
|
Fabry disease
|
(Orphanet:324)
|
Fanconi renotubular syndrome 1
|
(OMIM:134600)
|
Formiminoglutamic aciduria
|
(Orphanet:51208)
|
Fumaric aciduria
|
(Orphanet:24)
|
GRACILE syndrome
|
(Orphanet:53693)
|
Galactose epimerase deficiency
|
(Orphanet:79238)
|
Hyperprolinemia type 1
|
(Orphanet:419)
|
Hyperprolinemia type 2
|
(Orphanet:79101)
|
ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA
|
(OMIM:242550)
|
Isolated CoQ-cytochrome C reductase deficiency
|
(Orphanet:1460)
|
Isolated cytochrome C oxidase deficiency
|
(Orphanet:254905)
|
KETOADIPICACIDURIA
|
(OMIM:245130)
|
Leprechaunism
|
(Orphanet:508)
|
Lysinuric protein intolerance
|
(Orphanet:470)
|
METHIONINE MALABSORPTION SYNDROME
|
(OMIM:250900)
|
Maple syrup urine disease
|
(Orphanet:511)
|
Maternal hyperphenylalaninemia
|
(Orphanet:2209)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
(Orphanet:1933)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
|
(Orphanet:255235)
|
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
|
(Orphanet:279934)
|
Mitochondrial DNA depletion syndrome, myopathic form
|
(Orphanet:254875)
|
Neonatal hemochromatosis
|
(Orphanet:446)
|
Neonatal severe primary hyperparathyroidism
|
(Orphanet:417)
|
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
|
(Orphanet:88639)
|
Oculocerebrorenal syndrome
|
(Orphanet:534)
|
Odontotrichomelic syndrome
|
(Orphanet:2723)
|
Ornithine transcarbamylase deficiency
|
(Orphanet:664)
|
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
|
(OMIM:214100)
|
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
|
(OMIM:214110)
|
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
|
(OMIM:308990)
|
Pearson syndrome
|
(Orphanet:699)
|
Primary hyperoxaluria type 2
|
(Orphanet:93599)
|
ROWLEY-ROSENBERG SYNDROME
|
(OMIM:268500)
|
Rabson-Mendenhall syndrome
|
(Orphanet:769)
|
Renal tubulopathy - encephalopathy - liver failure
|
(Orphanet:254902)
|
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY
|
(OMIM:616084)
|
TIGLIC ACIDEMIA
|
(OMIM:275190)
|
Thiamine-responsive megaloblastic anemia syndrome
|
(Orphanet:49827)
|
Tyrosinemia type 1
|
(Orphanet:882)
|
Tyrosinemia type 2
|
(Orphanet:28378)
|
Wilson disease
|
(Orphanet:905)
|
Zellweger syndrome
|
(Orphanet:912)
|