Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:242600 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
ORPHA:42062 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Dibasic Amino Aciduria I |
|
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated uridine in urine |
OMIM:618477 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria |
OMIM:613646 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Lysine Malabsorption Syndrome |
|
Hyperlysinuria, Renal tubular lysine transport defect |
OMIM:247950 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Hyperprolinemia, Type Ii |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239510 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Cystinuria |
|
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
ORPHA:1325 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Nephrolithiasis, Aspartic aciduria |
OMIM:222730 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Saccharopinuria |
|
Citrullinuria, Saccharopinuria, Hyperlysinuria, Histidinuria |
OMIM:268700 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Threoninemia |
|
Hyperthreoninuria |
OMIM:273770 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria |
OMIM:204750 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
OMIM:235800 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Increased level of L-pyroglutamic acid in urine, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine |
OMIM:237400 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239500 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria |
OMIM:229100 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria |
ORPHA:2278 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Generalized aminoaciduria |
OMIM:136550 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Valinemia |
|
Valinuria |
OMIM:277100 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria |
OMIM:309930 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Dibasicaminoaciduria |
OMIM:238750 |
Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
ORPHA:2157 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria |
OMIM:230350 |
Hydroxykynureninuria |
|
Aminoaciduria, Renal tubular dysfunction |
OMIM:236800 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria |
OMIM:234500 |
Stimmler Syndrome |
|
Aminoaciduria |
ORPHA:3199 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Gracile Syndrome |
|
Aminoaciduria |
OMIM:603358 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria |
OMIM:236250 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction |
OMIM:606528 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency |
OMIM:613388 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... |
OMIM:134600 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Argininemia |
|
Diaminoaciduria |
ORPHA:90 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Alaninuria |
OMIM:202900 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria |
OMIM:617950 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Histidinuria Due To A Renal Tubular Defect |
|
Histidinuria, Impaired histidine renal tubular absorption |
OMIM:235830 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Impaired histidine renal tubular absorption |
ORPHA:2158 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Proximal tubulopathy, Aminoaciduria |
OMIM:612075 |
Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level |
OMIM:605850 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria |
ORPHA:664 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:618913 |
Saccharopinuria |
|
Hyperlysinuria, Citrullinuria, Cystinuria |
ORPHA:3124 |
Rowley-Rosenberg Syndrome |
|
Aminoaciduria |
OMIM:268500 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Hypertryptophanemia |
|
Tryptophanuria |
OMIM:600627 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... |
OMIM:300009 |
Galactosemia I |
|
Increased level of galactitol in urine, Galactosuria, Albuminuria, Aminoaciduria |
OMIM:230400 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Renal insufficiency, Lacticaciduria |
OMIM:619386 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Tyrosinemia, Type Iii |
|
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria |
OMIM:276710 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria |
OMIM:609560 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria |
OMIM:174810 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
Glycine Encephalopathy |
|
Hyperglycinuria |
OMIM:605899 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Hawkinsinuria |
|
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria |
OMIM:140350 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria |
OMIM:614946 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile |
ORPHA:391417 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
ORPHA:23 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
Sarcosinemia |
|
Hypersarcosinuria |
ORPHA:3129 |
Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
Dermotrichic Syndrome |
|
Aminoaciduria |
ORPHA:99688 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria |
ORPHA:30 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria |
OMIM:204000 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine |
OMIM:271980 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:309541 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Methylmalonic aciduria, Ketonuria |
OMIM:251120 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:210550 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Wilson Disease |
|
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Hyperca... |
OMIM:277900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
OMIM:220110 |
Cystinosis |
|
Renal tubular dysfunction, Nephropathy, Aminoaciduria, Proteinuria, Renal insufficiency |
ORPHA:213 |
Nephrolithiasis, Calcium Oxalate |
|
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... |
OMIM:167030 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
ORPHA:436271 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... |
OMIM:231680 |
Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... |
ORPHA:812 |
Tyrosinemia, Type Ii |
|
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia |
OMIM:276600 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Proximal tubulopathy, Elevated circulating creatinine concentration, Stag... |
ORPHA:411634 |
Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria |
OMIM:227810 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria |
OMIM:249270 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria |
OMIM:250940 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria |
OMIM:236270 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... |
ORPHA:18 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
D-Glyceric Aciduria |
|
Aminoaciduria |
OMIM:220120 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, N... |
ORPHA:47159 |
Hyperprolinemia Type 2 |
|
Prolinuria, Hydroxyprolinuria, Renal insufficiency, Increased urine alpha-ketoglutarate concentra... |
ORPHA:79101 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Glycosuri... |
ORPHA:2088 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthinuria, Absent urinary urothione, Increased urinary thiosulfate, Decreased urinary urate, In... |
OMIM:252150 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic aciduria |
OMIM:612073 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level |
OMIM:271900 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Hydronephrosis |
OMIM:617913 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hypercalciuria, Polyuria, Aminoaciduria |
OMIM:239200 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal tubulointerstitial... |
ORPHA:411629 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninuria, Methylmalonic aciduria, Hematuria, Homocystinuria, Hemolytic-uremic syndrome, N... |
OMIM:277400 |
Netherton Syndrome |
|
Ectopic kidney, Aminoaciduria, Hydronephrosis |
ORPHA:634 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria |
ORPHA:35706 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:614857 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria |
OMIM:609220 |
Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
Hypotonia-Cystinuria Syndrome |
|
Cystinuria, Nephrolithiasis |
OMIM:606407 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Cystathioninuria, Methylmalonic aciduria |
OMIM:277380 |
Hartnup Disease |
|
Neutral hyperaminoaciduria, Abnormal urinary color |
ORPHA:2116 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Ketonuria |
OMIM:618857 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Aminoaciduria |
OMIM:214110 |
Leigh Syndrome |
|
Ethylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunction, Methylmalonic acidur... |
ORPHA:506 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Organic aciduria, Ketonuria |
OMIM:210210 |
D-Glyceric Aciduria |
|
Hyperglycinuria |
ORPHA:941 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria |
OMIM:214100 |
Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria |
OMIM:603471 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:277410 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria |
OMIM:602080 |
Fumarase Deficiency |
|
Aminoaciduria |
OMIM:606812 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthinuria, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine |
OMIM:252160 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria |
OMIM:251880 |
Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Proximal renal tubular acidosis... |
OMIM:229600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Tubulointerstitial nephritis |
OMIM:124000 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Ketonuria |
ORPHA:2089 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria |
OMIM:264700 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Methioninuria, Homocystinuria |
OMIM:236200 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Hyperglycinuria |
OMIM:606054 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis |
OMIM:616084 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
OMIM:207900 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria |
OMIM:239000 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine |
OMIM:615501 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Stage 5 chronic k... |
OMIM:219800 |
Argininemia |
|
Oroticaciduria, Diaminoaciduria |
OMIM:207800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria |
OMIM:619055 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Ethylmalonic aciduria, Dicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, ... |
OMIM:619355 |
Kanzaki Disease |
|
Aminoaciduria, Increased urinary O-linked sialopeptides |
OMIM:609242 |
Hyperlysinemia |
|
Hyperlysinuria, Decreased urine alpha-ketoglutarate concentration, Argininuria, Cystinuria |
ORPHA:2203 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... |
ORPHA:91500 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria |
ORPHA:289157 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrocalcinosis, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis, Oligosacchariduria... |
ORPHA:534 |
Lowe Oculocerebrorenal Syndrome |
|
Hyperphosphaturia, Renal Fanconi syndrome, Proximal renal tubular acidosis, Aminoaciduria, Protei... |
OMIM:309000 |
Alkaptonuria |
|
Aminoaciduria, Nephrolithiasis |
ORPHA:56 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease |
OMIM:222700 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Ornithinuria, Decreased glomerular filtration rate,... |
ORPHA:470 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria |
OMIM:615486 |
X-Linked Intellectual Disability, Armfield Type |
|
Galactosuria, Aminoaciduria, Organic aciduria |
ORPHA:85276 |
Xeroderma Pigmentosum |
|
Aminoaciduria |
ORPHA:910 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria |
ORPHA:395 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria |
ORPHA:404454 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria |
ORPHA:93 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria |
OMIM:208400 |