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Gene: Mmut MGI:97239

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

methylmalonyl-Coenzyme A mutase

Synonyms:

D230010K02Rik, Mut

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mmut mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Mmut (3 diseases)
Human diseases predicted to be associated with Mmut (1511 diseases)

The table below shows human diseases associated to Mmut by orthology or direct annotation.

Disease	Matching phenotypes	Source
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hyperglycinemia, Hyper...	OMIM:251000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay	ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Hyperammonemia, Failure to thrive	ORPHA:79312

The table below shows human diseases predicted to be associated to Mmut by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Hyperammonemia, Hyperlysinemia, Dibasicaminoaciduria, Growth delay	OMIM:238750
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Hypernatriuria, Failure to thriv...	OMIM:613090
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia	ORPHA:147
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu...	OMIM:607364
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec...	ORPHA:18
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Saccharopinuria	Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys...	ORPHA:3124
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca...	OMIM:616963
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Hypernatriuria, Failure to thriv...	OMIM:602522
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Metabolic acidosis, Hypokalem...	OMIM:602722
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco...	ORPHA:97362
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,...	OMIM:143880
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Hypokalemic metabolic alk...	OMIM:601678
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hyperammonemia, Organic aciduria, Abnormal circulating leucine conc...	ORPHA:6
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Hyperchloremic acidosis, Proximal ...	OMIM:179830
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ketoacidosis, Elevated serum anion gap, Lactic acidosis, Hyperammonemia, 3-Methylglutaconic acidu...	OMIM:618120
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl...	OMIM:614817
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Elevated circulating sebacic acid concentration, Ele...	OMIM:615160
Alpha-Methylacetoacetic Aciduria	Episodic ketoacidosis, Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration	OMIM:203750
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Increased circulating lactate concentration, Elevated urine acetoacetic acid le...	OMIM:615751
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Acidosis, Ketonuria, Glycosuria, Beta 2-microglobulinuri...	OMIM:227810
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased...	OMIM:241200
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Ketoacidosis, Failure to thrive, Ketonuria, Episodic...	OMIM:615453
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co...	ORPHA:3337
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia	OMIM:239199
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tu...	ORPHA:2088
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Increased circulating lactate concentration, Failure to thrive, Hyperecho...	OMIM:613845
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology, Abnormality...	ORPHA:31
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis, Methylmalonic aciduria, Dehydration	OMIM:614265
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia, Failure to thrive	ORPHA:28
Developmental And Epileptic Encephalopathy 82	Short stature, Increased circulating lactate concentration, Hyperammonemia, Decreased body weight	OMIM:618721
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased circulating lactate concentration, Failure to thrive, Lactic acidosis, Hyperammonemia, ...	OMIM:614739
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c...	OMIM:615862
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Acidosis, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal ins...	OMIM:137950
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Medullary Sponge Kidney	Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis	ORPHA:1309
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Ketoacidosis, Failure to thrive, Episodic ketoacidosis, Lactic acidosis	OMIM:236795
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria, Failure to thrive	OMIM:612718
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc...	ORPHA:73224
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Short stature	ORPHA:23
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Postnatal growth retardation, Intrauterine growth retardation, Hypercalciuria, Micro...	OMIM:614732
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Keto...	OMIM:210210
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Combined Oxidative Phosphorylation Deficiency 10	Increased circulating lactate concentration, Failure to thrive, Intrauterine growth retardation, ...	OMIM:614702
Idiopathic Hypercalciuria	Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria	ORPHA:2197
Propionic Acidemia	Hyperammonemia, Organic aciduria	ORPHA:35
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Metabolic acidosis, Decreased circulating renin level, Hypokalemia, Hypercalc...	OMIM:613677
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Supernumerary nipple, Elevated circulating creatinine concentration...	OMIM:614376
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Decreased liver function, Metabolic acidosis, Neonatal death, Myoglobinuria, Dehydration	OMIM:602199
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal obstructi...	ORPHA:85450
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis, Severe short stature	OMIM:204730
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo...	ORPHA:157215
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia	ORPHA:35878
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Lactic acidosis, H...	OMIM:606054
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure...	ORPHA:89938
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia	ORPHA:664
Saccharopinuria	Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Short stature...	OMIM:268700
Combined Oxidative Phosphorylation Deficiency 34	Increased circulating lactate concentration, Failure to thrive, Elevated circulating creatinine c...	OMIM:617872
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Failure to thrive, Decreased methylmalonyl-CoA mutase activity...	OMIM:251100
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi...	OMIM:616629
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr...	ORPHA:247598
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei...	ORPHA:47159
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria	OMIM:612286
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia, Growth delay...	OMIM:263800
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dehydration, Pulmonic stenosis, Dicarboxylic aciduria	ORPHA:79159
Combined Malonic And Methylmalonic Acidemia	Acidosis, Elevated circulating hepatic transaminase concentration, Ketoacidosis, Methylmalonic ac...	ORPHA:289504
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Lactic acidosis, Metabolic acidosis, Nonimmune hydrops fetalis, Neonatal death, P...	OMIM:619003
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:603358
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Calcium nephrolithiasis, Failure to thrive, Hypophosphatemic rickets, Re...	OMIM:241530
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, Acute hyperammonemi...	OMIM:210200
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Motor stereotypy, Death in infancy	OMIM:616341
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper...	ORPHA:99879
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hyperglycinemia, Hyper...	OMIM:251000
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Weight loss, Growth delay, Organic aciduria	ORPHA:79242
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce...	ORPHA:159
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu...	ORPHA:71212
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Hyperinsulinemic Hypoglycemia, Familial, 6	Asymptomatic hyperammonemia, Failure to thrive	OMIM:606762
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Elevated circulatin...	OMIM:618416
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Hyperammonemia, Failure to thrive, Homocitrullinuria	OMIM:238970
Isovaleric Acidemia	Hyperglycinuria, Ketoacidosis, Metabolic acidosis, Cerebellar hemorrhage, Elevated urinary isoval...	OMIM:243500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Failure to thrive, Lactic acidosis, Cachexia, Weight loss, S...	OMIM:612075
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Failure to thrive, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, ...	OMIM:239200
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Intrahepatic cholestasis, Hepatic failure, Fail...	OMIM:606812
Lactase Deficiency, Congenital	Dehydration, Metabolic acidosis	OMIM:223000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati...	ORPHA:42
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased circulating lactate concentration, Lactic acidosis, Hyperprolinemia, Hyperalaninemia, L...	ORPHA:79246
Citrullinemia, Type Ii, Adult-Onset	Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Argininosuccinic aciduria, Elevated plasm...	OMIM:603471
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Increased circulating lactate concentration, Failure to thrive, Oroticaciduria, Lactic acidosis, ...	OMIM:620358
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Hypercholesterolemia, Short stature, Growth delay, Increased C-peptide level	OMIM:620211
Methylmalonic Aciduria, Cblb Type	Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Failure to thrive...	OMIM:251110
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria	ORPHA:428
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Failu...	OMIM:277400
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis, Dehydration	OMIM:610370
Hyperprolinemia, Type Ii	Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid...	OMIM:239510
Combined Oxidative Phosphorylation Deficiency 5	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis,...	OMIM:611719
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Hyperuricemia, Hydroxyprolinemia, Hyperc...	OMIM:239000
Colchicine Poisoning	Oliguria, Hypomagnesemia, Lactic acidosis, Renal insufficiency, Hypocalcemia, Metabolic acidosis,...	ORPHA:31824
Mitochondrial Complex I Deficiency, Nuclear Type 33	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis, Hy...	OMIM:618253
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Failure to thrive, Respiratory alkalosis, Hyperammonemia, Low plasma citrulline, Hypoargininemia,...	OMIM:237300
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Increased muscle lipid cont...	ORPHA:228302
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Increased circulating lactate concentration, Metabolic acidosis	OMIM:615158
Familial Renal Glucosuria	Nephropathy, Glycosuria, Recurrent urinary tract infections, Renal tubular dysfunction, Dehydration	ORPHA:69076
Systemic Capillary Leak Syndrome	Weight loss, Abnormal renal tubule morphology, Renal insufficiency, Oliguria	ORPHA:188
Hypophosphatasia, Infantile	Nephrocalcinosis, Disproportionate short-limb short stature, Phosphoethanolaminuria, Failure to t...	OMIM:241500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay	ORPHA:289916
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Renal insufficiency...	OMIM:619386
Methylmalonyl-Coa Epimerase Deficiency	Methylmalonic aciduria, Ketonuria, Dehydration, Metabolic acidosis	OMIM:251120
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Hyperammonemia, Metabolic acidosis	OMIM:620137
Combined Oxidative Phosphorylation Deficiency 4	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis, Hy...	OMIM:610678
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Increased circulating lactate concentration, Decrea...	OMIM:246450
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss, Growth delay	ORPHA:79238
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P...	OMIM:612780
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Hyperammonemia, Failure to thrive	ORPHA:79312
Enteric Anendocrinosis	Cholestatic liver disease, Portal hypertension, Hyperchloremic metabolic acidosis, Dehydration	ORPHA:83620
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Failure to thrive, Lactic acidosis, Hyperammone...	OMIM:609015
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Intrauterine gr...	OMIM:619048
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, De...	ORPHA:99901
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Short stature, Increased circulating lactate concentration, Elevated circulating creatine kinase ...	OMIM:616209
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ...	ORPHA:416
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Hyperamm...	OMIM:212140
Isolated Atp Synthase Deficiency	Renal hypoplasia, Lactic acidosis, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, ...	ORPHA:254913
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis, Hy...	OMIM:619051
Wolcott-Rallison Syndrome	Chronic kidney disease, Hypoalbuminemia, Ketoacidosis, Hyperbilirubinemia, Renal insufficiency, H...	ORPHA:1667
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating lactate concentration, Hyperammonemia, Metabolic acidosis, Elevated circula...	OMIM:620300
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:251274
Hawkinsinuria	Failure to thrive, Metabolic acidosis, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyros...	OMIM:140350
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia	OMIM:618567
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Red-brown urine, Hepatic failure, Dicarboxylic aciduria, Decreased plasma fr...	ORPHA:228308
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Intrauterine growth retardation, Increased level of methylsuccinic acid in uri...	ORPHA:26792
Beta-Ketothiolase Deficiency	Acidosis, Increased circulating lactate concentration, Ketonuria, Ketoacidosis, Hyperammonemia, M...	ORPHA:134
Hsd10 Disease, Infantile Type	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis,...	ORPHA:391428
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre...	OMIM:235400
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Mitochondrial Pyruvate Carrier Deficiency	Increased circulating lactate concentration, Organic aciduria, Respiratory distress, Lactic acido...	OMIM:614741
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome, Increased circulating lactate concentration, Hypoalbuminemia	OMIM:614652
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Increased circulating lactate concentration, Failure to thrive, Intrauter...	ORPHA:324525
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Homocystinuria, Methylmalonic aciduria, Decreased me...	OMIM:277410
Citrullinemia, Classic	Respiratory alkalosis, Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypo...	OMIM:215700
Hawkinsinuria	Failure to thrive, Metabolic acidosis, 4-Hydroxyphenylpyruvic aciduria, Abnormal circulating tyro...	ORPHA:2118
Argininosuccinic Aciduria	Aminoaciduria, Respiratory alkalosis, Failure to thrive, Oroticaciduria, Hyperammonemia, Increase...	OMIM:207900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures	ORPHA:2239
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Lactic acidosis, Hyperammonemia...	OMIM:253270
Oculoskeletodental Syndrome	Renal agenesis, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Short stature, Hypercalcemia...	OMIM:618440
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Growth delay, Intrauterine growth retardation, Hyperammonemia, 3-Methylglutaconic aciduria, Abnor...	ORPHA:1194
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho...	ORPHA:3032
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased circulating lactate concentration, Abnormal renal physiology, Elevated circulating crea...	OMIM:274150
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Hepatic failure, Stage 5 chronic kidney disease, Decreased plasma free carnitine...	ORPHA:157
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Ascites, Pleural effusio...	ORPHA:2414
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia	OMIM:619751
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep...	OMIM:608709
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:619062
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Abnorm...	ORPHA:320
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul...	ORPHA:340
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Acute Monoblastic/Monocytic Leukemia	Oliguria, Weight loss	ORPHA:514
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased circulating lactate concentration, Respiratory distress, Hypertrophic cardiomyopathy, L...	ORPHA:91130
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hyp...	OMIM:604278
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Metabolic acidosis, Decreased body weight, Elevated circulati...	ORPHA:90051
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation...	OMIM:617093
Combined Oxidative Phosphorylation Deficiency 43	Increased circulating lactate concentration, Intrauterine growth retardation, Small for gestation...	OMIM:618851
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low ...	OMIM:311250
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Failure to thrive, Abnormality of Krebs cycle metabolism, Multiple glomerular cy...	ORPHA:255210
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Increased circulating lactate concentration, Intraalveolar phospho...	OMIM:222700
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Metabolic acidosis	OMIM:231900
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D...	ORPHA:26791
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Renal salt wasting, Hype...	OMIM:264350
Lipoyltransferase 1 Deficiency	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:616299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Increased circulating lactate concentration, Growth delay, Failure to thrive, Intrauterine growth...	OMIM:614052
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia	OMIM:601466
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Abnormal bleeding, Elevated c...	OMIM:208085
Glycogen Storage Disease Xi	Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k...	OMIM:612933
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho...	ORPHA:405
2P21 Microdeletion Syndrome	Failure to thrive, Lactic acidosis, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth delay	ORPHA:163693
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Acidosis, Increased circulating renin level	OMIM:619406
N-Acetylglutamate Synthase Deficiency	Alkalosis, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma ci...	OMIM:237310
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Increased circulating lactate concentration, Growth delay, Failure t...	ORPHA:3008
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Failure to thrive,...	OMIM:230400
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activi...	OMIM:230350
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin...	OMIM:124000
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Elevated ser...	ORPHA:556037
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ...	ORPHA:470
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Glycogen Storage Disease Vi	Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia, Hypercholesterolemia,...	OMIM:232700
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Renal steatosis, Hepatic steatosis	OMIM:261650
Succinic Acidemia	Respiratory distress, Lactic acidosis	OMIM:600335
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased circulating lactate concentration	OMIM:618245
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Angioedema, Respiratory distress, Tongue edema, Abnormal capillary physiology, Lary...	ORPHA:100057
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:618400
Combined Oxidative Phosphorylation Deficiency 47	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:618958
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Lactic acidosis, Organic aciduria, Neonatal death	OMIM:617184
Perching Syndrome	Respiratory distress, Dysphagia	OMIM:617055
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Bradykinesia, Neuromuscular dysphagia, Falls	ORPHA:240085
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia	OMIM:145980
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ...	ORPHA:49041
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased circulating lactate concentration	OMIM:249500
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Elevated ser...	ORPHA:556030
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Citrullinemia Type I	Hyperammonemia, Respiratory alkalosis, Elevated plasma citrulline, Failure to thrive	ORPHA:247525
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Increased circulating lactate concentration, Growth delay, Failure to thrive, Lactic acidosis, Hy...	OMIM:615471
Hsd10 Disease, Neonatal Type	Abnormal concentration of acylcarnitine in the urine, Lactic acidosis, Metabolic acidosis	ORPHA:391457
Glutaric Acidemia Type 3	Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketoacidosis, Ketonuria, Fai...	ORPHA:35706
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Failure to thrive, Hyperbilirubinemia, Lactic acidosis, Metabolic acid...	OMIM:557000
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:254210
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glome...	ORPHA:251004
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Metabolic acidosis, Hypophosphatem...	ORPHA:411634
Cardiogenic Shock	Elevated circulating creatinine concentration, Increased circulating lactate concentration, Oligu...	ORPHA:97292
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu...	OMIM:201475
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:27
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circul...	OMIM:203400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Intermittent lactic acidemia, Hyperlipidemia, Proteinuria, Delayed puberty, Ab...	ORPHA:369
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce...	OMIM:613642
Argininemia	Oroticaciduria, Postnatal growth retardation, Hyperammonemia, Hyperargininemia, Diaminoaciduria	OMIM:207800
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Nephrocalcinosis, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hype...	OMIM:156400
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity, Renal cell carcinoma	OMIM:150800
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Severe lactic acidosis, Increased circulating lactate concentration, Postnatal growth retardation...	OMIM:616111
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ke...	OMIM:616878
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Failure to thrive, Decreased testicular size, Postnatal growth retarda...	OMIM:610198
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Increased circulating lactate concentration, Hyperalaninemia, Failure to thrive	OMIM:617950
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Drug-Induced Lupus Erythematosus	Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ...	ORPHA:231111
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph...	OMIM:616026
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Acetyl-Coa Carboxylase-Alpha Deficiency	Increased circulating lactate concentration, Growth delay	OMIM:613933
Acquired Partial Lipodystrophy	Proteinuria, Glomerulopathy, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Lujo Hemorrhagic Fever	Oliguria, Renal insufficiency, Metabolic acidosis, Elevated circulating C-reactive protein concen...	ORPHA:319213
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large for gestational age, Renal cyst, Hypercal...	OMIM:615398
Transient Neonatal Diabetes Mellitus	Abnormality of the urinary system, Abnormality of the kidney, Dehydration, Diabetic ketoacidosis	ORPHA:99886
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Dysphagia	ORPHA:50251
Interstitial Lung And Liver Disease	Aminoaciduria, Intraalveolar phospholipid accumulation, Failure to thrive, Lactic acidosis, Hyper...	OMIM:615486
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Oliguria, Renal insufficiency	ORPHA:727
Diarrhea 13	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive	OMIM:620357
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in...	OMIM:617595
Citrullinemia Type Ii	Hypoalbuminemia, Enuresis, Decreased body mass index, Decreased HDL cholesterol concentration, De...	ORPHA:247585
Hyperlysinemia	Hypoornithinemia, Hyperlysinuria, Failure to thrive, Hyperammonemia, Cystinuria, Hyperlysinemia, ...	ORPHA:2203
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia	ORPHA:927
Hypotonia-Cystinuria Syndrome	Increased circulating lactate concentration, Cystine crystalluria, Failure to thrive, Postnatal g...	OMIM:606407
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Idiopathic Achalasia	Weight loss, Decreased circulating prealbumin concentration	ORPHA:930
Developmental And Epileptic Encephalopathy 50	Oroticaciduria, Hyperammonemia, Renal tubular acidosis, Failure to thrive	OMIM:616457
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k...	ORPHA:2364
3-Methylglutaconic Aciduria Type 9	Increased circulating lactate concentration, Failure to thrive, Slender build, 3-Methylglutaconic...	ORPHA:505216
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c...	OMIM:201450
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased circulating lactate concentration, Hyperglycinemia, Lacticaciduria	OMIM:619063
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct...	OMIM:616829
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Skin rash, Intestinal obstruction, Hematuria, Proteinuria, Increased inflamm...	ORPHA:183
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Respiratory distress, Lethargy, Hepatome...	OMIM:613561
Dibasic Amino Aciduria I	Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria	OMIM:222690
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Short stature, Tubulointerstitial nephritis	OMIM:616901
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Short stature, Increased circulating lactate concentration, Mildly elevated creatine kinase	ORPHA:457050
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency	ORPHA:220393
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypoornithinemia, Failure to thrive, Intrauterine growth retardation, Hyperammonemia, Low plasma ...	OMIM:219150
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Elevated circulating creatine kinase concentration	OMIM:255100
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ke...	ORPHA:480864
Chronic Hiccup	Dehydration	ORPHA:396
Glucose/Galactose Malabsorption	Hypertonic dehydration, Glycosuria, Metabolic acidosis	OMIM:606824
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar...	OMIM:603860
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure, Myoglobinu...	OMIM:231530
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema	OMIM:267450
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Cirrhosis, Increased urinary copper concentration, Copper accumulation in liver	ORPHA:209919
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Failure to thrive, Mitochondrial swelling, Elevated cir...	OMIM:615595
Lassa Fever	Oliguria	ORPHA:99824
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Increased circulating lactate concentration, Ketonuria, Hyperammonemia...	ORPHA:20
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Cachex...	ORPHA:1933
Familial Hypoaldosteronism	Failure to thrive, Metabolic acidosis, Hyponatremia, Decreased urinary potassium, Proximal renal ...	ORPHA:427
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Positive ferric chloride test, Growth delay, Elevated urinary formiminoglutamic ac...	OMIM:229100
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:203800
Combined Oxidative Phosphorylation Deficiency 44	Increased circulating lactate concentration	OMIM:618855
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Bardet-Biedl Syndrome 16	Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency, Renal ...	OMIM:615993
Pulmonary Blastoma	Weight loss	ORPHA:64741
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ...	ORPHA:26793
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:614055
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea	ORPHA:141152
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Failu...	ORPHA:79282
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating creatine kinase concentration, Hyperammonemia, Dicarboxylic aciduria	OMIM:212138
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Increased circulating lactate...	OMIM:605711
Cholera	Acidosis, Acute kidney injury, Abnormal blood ion concentration, Lactic acidosis, Hypocalcemia, H...	ORPHA:173
Combined Oxidative Phosphorylation Deficiency 30	Increased circulating lactate concentration, Decreased liver function, Respiratory distress, Elev...	OMIM:616974
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Ne...	ORPHA:300536
Dihydropyrimidinase Deficiency	Growth delay, Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thy...	OMIM:222748
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidosis, Dicarboxyl...	OMIM:615026
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperk...	OMIM:614736
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Metabolic acidosis, Hypokalem...	OMIM:611590
Malaria	Respiratory distress, Acute kidney injury, Gait imbalance	ORPHA:673
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Metabolic acidosis, Hypokalemia, Hyponatremia, Po...	OMIM:620152
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Episodic ketoacidosis, Tachypnea, Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic ...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Intrauterine growth retardation, Lactic acidosis, Failure to thrive	OMIM:615440
Infantile Nephropathic Cystinosis	Aminoaciduria, Acidosis, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperph...	ORPHA:411629
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis, Polyuria	OMIM:222100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote...	ORPHA:488627
Spasticity, Childhood-Onset, With Hyperglycinemia	Increased circulating lactate concentration, Hyperglycinemia	OMIM:616859
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos...	OMIM:613404
Long-Olsen-Distelmaier Syndrome	Increased circulating lactate concentration, Hyperammonemia, Failure to thrive	OMIM:620609
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased circulating lactate concentration	ORPHA:238329
Splenoportal Vascular Anomalies	Hyperammonemia	OMIM:271500
Multiple Mitochondrial Dysfunctions Syndrome 5	Increased circulating lactate concentration, Growth delay, Elevated circulating creatine kinase c...	OMIM:617613
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Friedreich Ataxia	Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced	OMIM:229300
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Metabolic acidosis, Hematuria, Elevated uri...	OMIM:259900
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Decreased urinary sulfate, Metabolic acidosis, Elevated circulating creatine ki...	OMIM:272300
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta...	OMIM:231680
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Increased circulatin...	ORPHA:534
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased...	ORPHA:542323
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine amino...	OMIM:618805
Liver Failure, Infantile, Transient	Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat...	OMIM:613070
Microvillus Inclusion Disease	Nephrocalcinosis, Metabolic acidosis, Hypovolemia, Dehydration, Abnormal renal physiology	ORPHA:2290
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Hypertension, Dehydration	OMIM:616069
Biotinidase Deficiency	Hyperammonemia, Organic aciduria, Metabolic ketoacidosis	OMIM:253260
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro...	OMIM:600740
Lead Poisoning	Chronic kidney disease, Skin rash, Renal tubular dysfunction, Delayed puberty, Oligozoospermia, T...	ORPHA:330015
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Wilson Disease	Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ...	OMIM:277900
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Cleft palate	ORPHA:459061
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular...	OMIM:145981
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Respiratory alkalosis, Failure to thrive, Oroticaciduria, Abnormal circulating citrulline concent...	ORPHA:415
Bardet-Biedl Syndrome 19	Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis	OMIM:615996
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Nephro...	ORPHA:544482
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Increased circulating lactate concentration, Renal hypoplasia, Failure to thrive, ...	OMIM:604273
Combined Oxidative Phosphorylation Deficiency 27	Increased circulating lactate concentration, Hyperammonemia, Failure to thrive	OMIM:616672
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Dilated cardiomyopathy, Polyhydramnios	OMIM:300580
Morbid Obesity And Spermatogenic Failure	Obesity, Azoospermia, Hepatic steatosis, Oligozoospermia	OMIM:615703
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Short stature, Splenomegaly	ORPHA:417
Hydroxykynureninuria	Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level	OMIM:236800
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Elevated circulating hepatic transaminase conc...	OMIM:605911
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Respiratory distress, Death in childhood, Hy...	OMIM:220110
Perlman Syndrome	High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Nephroblastoma, Hepatomegaly, ...	ORPHA:2849
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:79084
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Obesity, Renal cyst, Hypercalciuria, Hypertr...	ORPHA:369837
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Hyperoxaluria, Primary, Type Iii	Calcium oxalate nephrolithiasis, Hyperoxaluria	OMIM:613616
Leprechaunism	Nephrocalcinosis, Long penis, Failure to thrive, Hyperaldosteronism, Postnatal growth retardation...	ORPHA:508
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria, Increased circulating lactate concentration, Failure to thrive, Elevated circulat...	OMIM:616034
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Hypospadias	OMIM:201710
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ...	ORPHA:94059
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Metabolic acidosis, Hematuria, Hypophosphatemia, W...	OMIM:219800
3-Methylglutaconic Aciduria, Type Ix	3-Methylglutaric aciduria, Increased circulating lactate concentration, Failure to thrive, 3-Meth...	OMIM:617698
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Adrenomyodystrophy	Abnormality of the urinary system, Failure to thrive, Megacystis, Hepatic steatosis, Abnormal int...	ORPHA:977
Nephronophthisis 3	Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein...	OMIM:604387
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Abnormality of the liver, Severe lactic acidosis	ORPHA:254864
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
D-Glyceric Aciduria	Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Metabolic acidosis...	ORPHA:941
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Postnatal growth retardation, Int...	OMIM:616733
Mitochondrial Myopathy, Infantile, Transient	Increased circulating lactate concentration, Decreased circulating carnitine concentration, Failu...	OMIM:500009
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism, Myocardial infarction	ORPHA:3325
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Portal vein thrombosis, Pulmonary embolism	ORPHA:82
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Portal hypertension, Renal tubular dysfunction, ...	ORPHA:213
Combined Oxidative Phosphorylation Deficiency 23	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis, Fa...	OMIM:616198
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hyperammonemia, Elevated circulating creatine kinase concentration	OMIM:600649
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Increased circulating lactate concentration, Methylmalonic aciduria, Failure to th...	OMIM:612073
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca	OMIM:270150
3-Methylglutaconic Aciduria, Type Viib	Increased circulating lactate concentration, Abnormal bleeding, Congestive heart failure, Respira...	OMIM:616271
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Methylmalonic aciduria, Failure to thrive, Intrauterine growth retardation, Lactic acidosis, Hype...	OMIM:245400
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Hepatomegaly, P...	ORPHA:422
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Gracile Syndrome	Cholestasis, Intrauterine growth retardation, Hepatic steatosis, Cirrhosis, Renal Fanconi syndrom...	ORPHA:53693
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Lactic acidosis, Hyperglycinemia, Metabolic acidosis, Beta-amino...	OMIM:615330
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Dehydration, Metabolic acidosis	OMIM:620125
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Metabolic acidosis, Increased body weight, Blue urine, Hyper...	ORPHA:94086
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive, Nocturia	ORPHA:178029
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Increased circulating lactate concentration, Ketonuria, Hypertrophic cardiomyop...	OMIM:619053
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Short stature	ORPHA:2089
3-Methylglutaconic Aciduria, Type I	Urinary incontinence, Metabolic acidosis, Failure to thrive, 3-Methylglutaconic aciduria	OMIM:250950
Mitochondrial Complex I Deficiency, Nuclear Type 29	Increased circulating lactate concentration, Failure to thrive, Stage 5 chronic kidney disease, L...	OMIM:618250
Attrv30M Amyloidosis	Nephropathy, Weight loss, Abnormal renal physiology	ORPHA:85447
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c...	OMIM:613824
Mulibrey Nanism	Short stature, Intrauterine growth retardation, Cachexia	ORPHA:2576
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos...	ORPHA:264580
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Helix Syndrome	Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria	OMIM:617671
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased circulating lactate concentration, Failure to thrive, Metabolic acidosis	OMIM:610090
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Renal steatosis, E...	OMIM:261680
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Lactic acidosis, Hypocalcemia, Elevated circula...	ORPHA:466650
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:609560
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Growth delay, Recurrent urinary tract infections, Reduced renal co...	ORPHA:731
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto...	OMIM:617049
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227982
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasi...	OMIM:208540
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He...	ORPHA:227990
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Elevated urinary dopamine level, Increased blood u...	ORPHA:230
Ethylene Glycol Poisoning	Elevated serum anion gap, Lactic acidosis, Renal insufficiency, Hypocalcemia, Renal tubular dysfu...	ORPHA:31826
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Increased urinary glycerol, Respiratory ...	ORPHA:348
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Respiratory distress, C...	OMIM:617156
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis...	OMIM:154230
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Severe short-limb dwarfism, Hepatic steatosis	ORPHA:436182
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Increased circulating lactate concentration, I...	OMIM:619224
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, Failure to thrive, 3-Methylglutaconic aciduria	ORPHA:67048
Pyruvate Carboxylase Deficiency	Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Proximal renal tub...	OMIM:266150
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Bradykinesia, Dysphagia	ORPHA:240103
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Rett Syndrome	Increased circulating lactate concentration, Failure to thrive, Hyperammonemia, Increased serum p...	ORPHA:778
Combined Oxidative Phosphorylation Deficiency 45	Increased circulating lactate concentration, Failure to thrive	OMIM:618951
Tubulointerstitial Nephritis And Uveitis Syndrome	Scleritis, Weight loss, Tubulointerstitial nephritis, Aminoaciduria, Sterile pyuria, Beta 2-micro...	ORPHA:91500
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Metabolic acidosis	ORPHA:2597
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Acute Adrenal Insufficiency	Failure to thrive, Renal insufficiency, Hyperkalemic metabolic acidosis, Hyperuricemia, Hyponatre...	ORPHA:95409
Renal Tubular Dysgenesis	Abnormality of the urinary system, Renotubular dysgenesis, Anuria	OMIM:267430
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Isolated Glycerol Kinase Deficiency	Short stature, Metabolic acidosis, Elevated circulating creatine kinase concentration	ORPHA:408
Glutamine Deficiency, Congenital	Hypoglutaminemia, Hyperammonemia	OMIM:610015
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Dehydration, Edema	ORPHA:103910
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss	ORPHA:90060
Biotinidase Deficiency	Hyperammonemia, Organic aciduria, Metabolic ketoacidosis	ORPHA:79241
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Red-brown urine, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea...	ORPHA:228305
Developmental And Epileptic Encephalopathy 53	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:617389
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Congenital Disorder Of Glycosylation, Type Iiaa	Hydronephrosis, Unilateral renal agenesis, Hypercholesterolemia, Hyperammonemia	OMIM:620454
Adrenal Hypoplasia, Congenital	Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Delayed puberty, Renal sal...	OMIM:300200
Mitochondrial Complex I Deficiency, Nuclear Type 23	Increased circulating lactate concentration, Growth delay	OMIM:618244
Cockayne Syndrome Type 1	Failure to thrive, Postnatal growth retardation, Renal insufficiency, Proteinuria, Increased bloo...	ORPHA:90321
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased circulating lactate concentration, Intrauterine growth retardation, Failure to thrive, ...	OMIM:618237
Laryngeal Neuroendocrine Tumor	Weight loss, Elevated circulating carcinoembryonic antigen concentration	ORPHA:100083
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Increased circulating lactate concentration, Ele...	OMIM:614105
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H...	ORPHA:35710
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat...	OMIM:115197
Growth Hormone Deficiency, Isolated Partial	Short stature, Postnatal growth retardation	OMIM:615925
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Small for gestational age, Growth delay, Congenital nephrotic syndrome, Renal in...	OMIM:256300
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Decreased activity of mitochondrial complex I, Fa...	OMIM:618234
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatic fibrosis, Elevated circulating hepatic transamina...	OMIM:619487
Obesity And Hypopigmentation	Obesity, Hepatic steatosis	OMIM:620195
Combined Oxidative Phosphorylation Deficiency 3	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Intrauterine growth...	OMIM:610505
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Metabolic acidosis,...	OMIM:618247
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Failure to thrive, Gout, Renal tubular acidosis, Ne...	ORPHA:358
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk	OMIM:617977
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Decreased liver function, Abnormal circulating enzyme concentration or activit...	ORPHA:70472
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Methylmalonic aciduria, Respiratory distress, Lethargy, Gait disturbance, Jaundice	OMIM:250940
Rhabdoid Tumor	Hematuria, Weight loss, Hypercalcemia, Renal neoplasm	ORPHA:69077
Cranioectodermal Dysplasia 1	Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Rhizomelia, H...	OMIM:218330
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:367
Mitochondrial Complex I Deficiency, Nuclear Type 25	Intrauterine growth retardation, Lactic acidosis, Failure to thrive	OMIM:618246
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Megacystis, Polyuria, Short stature, Hypernatremia	OMIM:125800
Acute Lung Injury	Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Acute pancreatitis,...	ORPHA:178320
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Megacystis, Polyuria, Short stature, Hypernatremia	OMIM:304800
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Failure to thrive, Duodenal stenosis, Horseshoe kidney, Intra...	ORPHA:2470
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Reduced circulati...	OMIM:611489
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Dysphagia	OMIM:614399
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Myopathy And Diabetes Mellitus	Respiratory distress, Tip-toe gait, Inability to walk, Progressive cerebellar ataxia	ORPHA:2596
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,...	OMIM:601346
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ...	OMIM:256100
Lethal Recessive Chondrodysplasia	Respiratory distress, Polyhydramnios, Edema	ORPHA:1423
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Increased circulating lactate concentration	OMIM:619196
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Metabolic acidosis, Arrhythmia, Dehydration	ORPHA:171876
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Neonatal death	OMIM:615918
Lysosomal Acid Lipase Deficiency	Acidosis, Hypotension, Hepatic fibrosis, Hepatic failure, Hypernatriuria, Elevated circulating he...	ORPHA:275761
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Mitochondrial Complex I Deficiency, Nuclear Type 30	Intrauterine growth retardation, Metabolic acidosis	OMIM:301021
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Short stature	OMIM:193100
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased circulating lactate concentration, Small for gestational age, Failure to thrive, Renal ...	OMIM:619147
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Failure to thrive, Hepatic steatosis, Reduced cystathionine beta-synthase activit...	OMIM:236200
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:545000
Mitochondrial Complex I Deficiency, Nuclear Type 34	Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis	OMIM:618776
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Hepatic ...	OMIM:614922
Congenital Disorder Of Glycosylation, Type Ip	Hyperammonemia	OMIM:613661
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Proximal tubulopathy, Polyuria, Dehydration	OMIM:560000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Loss of ambu...	OMIM:620375
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc...	ORPHA:93111
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Hypomagnesemia, Increased blood ur...	OMIM:223360
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Hypospadias	OMIM:201910
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation	OMIM:600546
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased circulating lactate concentration, Intrauterine growth retardation, La...	OMIM:617021
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Failure to thrive, Decreased liver function, Hyperphosphaturia, Renal ...	ORPHA:436271
Mitochondrial Myopathy With Lactic Acidosis	Increased circulating lactate concentration, Increased serum pyruvate, Elevated serum anion gap, ...	OMIM:251950
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia	ORPHA:60032
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration, Metabolic acidosis	OMIM:620126
Combined Oxidative Phosphorylation Deficiency 38	Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Failure to thrive	OMIM:618378
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, E...	ORPHA:94080
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Combined Oxidative Phosphorylation Deficiency 28	Increased circulating lactate concentration, Increased serum pyruvate, Severe lactic acidosis	OMIM:616794
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased circulating lactate concentration, Chronic lactic acidosis, Lactic acidosis, Metabolic ...	OMIM:312170
Combined Oxidative Phosphorylation Deficiency 6	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:300816
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphe...	ORPHA:75249
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Increased circulating lactate concentration, Failure to thrive, I...	OMIM:619055
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Dehydration, Metabolic acidosis	OMIM:177735
Mitochondrial Complex I Deficiency, Nuclear Type 13	Acidosis, Decreased circulating carnitine concentration, Failure to thrive, Metabolic acidosis	OMIM:618235
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Grade II vesico...	OMIM:619377
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co...	OMIM:619355
Combined Oxidative Phosphorylation Deficiency 48	Increased circulating lactate concentration, Lactic acidosis, Failure to thrive	OMIM:619012
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis	OMIM:612287
Sengers Syndrome	Increased circulating lactate concentration, Exercise-induced lactic acidemia, Lactic acidosis, 3...	OMIM:212350
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Congenital lactic acidosis, Increased circulating lactate concentration, Failure to thrive, Intra...	OMIM:615824
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Methylmalonic aciduria, Lactic acidosis, Metabolic acidosis, S...	OMIM:248360
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea	ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 8	Increased circulating lactate concentration, Lactic acidosis, Failure to thrive, Metabolic acidosis	OMIM:614096
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Lactic acidosis, Failure to thrive, Ethylmal...	OMIM:602473
Immunodeficiency 95	Respiratory distress	OMIM:619773
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased circulating lactate concentration, Abnormal circulating pyruvate family amino acid conc...	ORPHA:255182
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Small for gestational age, Elevated circulating crea...	OMIM:619054
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Hepatic steatosis, Osteoarthritis	OMIM:606069
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Short stature	OMIM:612526
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par...	ORPHA:79078
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen...	OMIM:617300
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Metabolic acidosis	OMIM:214150
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Increased circulating lactate concentration, L...	OMIM:614458
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Cholestasis, Acute hepatic failure, Decreased activity ...	OMIM:256810
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c...	ORPHA:431361
Mitochondrial Dna Depletion Syndrome 18	Elevated urinary quinolinic acid level, Failure to thrive, Lacticaciduria	OMIM:618811
Primary Sjögren Syndrome	Arteritis, Biliary cirrhosis, Xerostomia, Parotitis, Chronic active hepatitis, Renal insufficienc...	ORPHA:289390
Citrullinemia, Type Ii, Neonatal-Onset	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to t...	OMIM:605814
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:369840
Congenital Short Bowel Syndrome	Dehydration, Metabolic acidosis	OMIM:615237
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Yellow Fever	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R...	ORPHA:99829
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:617069
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ...	OMIM:256700
Pyridoxal Phosphate-Responsive Seizures	Increased circulating lactate concentration, Failure to thrive, Abnormal circulating arginine con...	ORPHA:79096
Glycogen Storage Disease Ixa1	Lactic acidosis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Growth delay	OMIM:306000
Macrocephaly-Intellectual Disability-Autism Syndrome	Penile freckling, Intestinal polyposis, Hepatic steatosis, Lymphoid nodular hyperplasia	ORPHA:210548
Infantile Liver Failure Syndrome 2	Hyperammonemia	OMIM:616483
Multiple Endocrine Neoplasia Type 2	Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Nephrolithiasis, E...	ORPHA:653
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Difficulty walking, Dysphagia	ORPHA:254875
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased circulating lactate concentration, Failure to thrive, Lactic acidosis, Metabolic acidos...	OMIM:619046
Familial Glucocorticoid Deficiency	Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Hyponatremia, Decreased ci...	ORPHA:361
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Increased circulating lactate concentra...	OMIM:616277
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria...	ORPHA:447
Reticular Dysgenesis	Dehydration	ORPHA:33355
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Increased circulating lactate concentration, Lactic acidosis, Me...	OMIM:615578
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab...	OMIM:123550
Combined Oxidative Phosphorylation Deficiency 31	Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Failure to thrive	OMIM:617228
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction...	OMIM:619167
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Facial edema, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerul...	ORPHA:567546
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hyperbilirubinemia,...	OMIM:229600
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Lethargy, Tachypnea, Ataxia, Hepatomegaly	OMIM:614299
Immunodeficiency 54	Chromosome breakage, Failure to thrive, Postnatal growth retardation, Intrauterine growth retarda...	OMIM:609981
Diencephalic Syndrome	Cachexia, Long penis, Decreased body weight	ORPHA:1672
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Primary Dystonia, Dyt4 Type	Respiratory distress, Gait disturbance, Dysphagia, Dysdiadochokinesis	ORPHA:98805
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Hypok...	ORPHA:1501
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Renal salt wasting	OMIM:613743
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Acquired Methemoglobinemia	Acidosis, Respiratory distress, Palpitations, Arrhythmia, Syncope, Dyspnea, Tachycardia	ORPHA:464453
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Cystic Fibrosis	Steatorrhea, Hypercalciuria, Failure to thrive	OMIM:219700
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spl...	ORPHA:2137
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le...	ORPHA:231625
Nipah Virus Disease	Respiratory distress, Anorexia	ORPHA:99825
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepatosplenomegaly, Hep...	OMIM:619013
D-Glyceric Aciduria	Aminoaciduria, Failure to thrive, Metabolic acidosis, Micropenis, Elevated circulating D-glyceric...	OMIM:220120
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate...	OMIM:616433
Pulmonary Arteriovenous Malformation	Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ...	ORPHA:2038
Lathosterolosis	Horseshoe kidney, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia	OMIM:607330
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, St...	ORPHA:71
Pearson Syndrome	Hepatic steatosis, Hepatomegaly, Hypoplastic spleen, Increased circulating lactate concentration,...	ORPHA:699
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Short statur...	OMIM:261750
Sarcoidosis	Nephrocalcinosis, Enlarged lacrimal glands, Hepatic failure, Decreased liver function, Parotitis,...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypospadias	OMIM:300934
Tyrosinemia, Type Ii	4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Hypertyrosinemia, Growth ...	OMIM:276600
Combined Oxidative Phosphorylation Deficiency 1	Increased circulating lactate concentration, Intrauterine growth retardation, Metabolic acidosis,...	OMIM:609060
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, G...	OMIM:614921
Cocaine Intoxication	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Hematuria, Protei...	ORPHA:90068
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Nephroblastoma	Hematuria, Weight loss, Nephroblastoma	ORPHA:654
Folinic Acid-Responsive Seizures	Broad-based gait, Respiratory distress, Difficulty walking, Apnea, Ataxia	ORPHA:79097
Slc35A1-Cdg	Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Prolonged...	ORPHA:238459
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Failure to thrive, Lactic acidosis, Metabolic acidos...	OMIM:618228
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Dysphagia	ORPHA:1332
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:617070
Thyroid Lymphoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:97285
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Primary Unilateral Adrenal Hyperplasia	Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Metabolic alkalosis,...	ORPHA:231580
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston...	ORPHA:209902
Perrault Syndrome 5	Increased circulating lactate concentration, Increased serum pyruvate, Elevated circulating creat...	OMIM:616138
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Pyruvate Dehydrogenase E1-Alpha Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Intrauterine growth reta...	ORPHA:79243
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Beckwith-Wiedemann Syndrome	Nephropathy, Obesity, Large for gestational age, Vesicoureteral reflux, Nephroblastoma, Nephrolit...	ORPHA:116
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney, Dehydration	ORPHA:634
Glutaric Acidemia I	Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive...	OMIM:231670
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis, Dysphagia, Obsessive-compulsive trait	OMIM:160900
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Ketoacidosis, Lactic acidosis, Metabolic acidosis	OMIM:246900
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Renal tubular dysfunction, Ab...	ORPHA:99885
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Acute kidney injury, Pulmonary embolism, Elevated circulating h...	ORPHA:94093
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Urinar...	ORPHA:52430
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I...	OMIM:179800
Camptodactyly-Taurinuria Syndrome	Aminoaciduria, Increased urinary taurine	ORPHA:1325
Familial Cold Urticaria	Dehydration	ORPHA:47045
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis, Ketonuria	OMIM:616095
Hypophosphatemic Rickets, Autosomal Recessive, 2	Short stature, Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia	OMIM:613312
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Nep...	ORPHA:29073
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Lactic acidosis, Renal insufficie...	ORPHA:99826
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ...	OMIM:276700
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Mixed respi...	OMIM:145600
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased circulating lactate concentration, Respiratory distress, Lactic acidosis, Pulmonary art...	OMIM:619272
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Elevated circulating hepatic transaminase concentration, Death in infancy	OMIM:615042
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Oxoglutarate Dehydrogenase Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Metabolic acidosis	OMIM:203740
Glycogen Storage Disease Ixc	Increased circulating lactate concentration, Postnatal growth retardation, Lactic acidosis, Hyper...	OMIM:613027
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Combined Oxidative Phosphorylation Deficiency 55	Increased circulating lactate concentration, Proximal tubulopathy, Organic aciduria, Hypomagnesem...	OMIM:619743
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Post...	OMIM:620366
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Death in childhood, Ataxia, Dysp...	OMIM:211530
Severe Acute Respiratory Syndrome	Respiratory distress, Acute kidney injury, Dyspnea	ORPHA:140896
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Ketonuria, Inflexible adherence to routines	OMIM:608049
Liver Disease, Severe Congenital	Aminoaciduria, Failure to thrive, Recurrent urinary tract infections, Hyperechogenic kidneys, Inc...	OMIM:619991
Ethylmalonic Encephalopathy	Lactic acidosis, Failure to thrive, Ethylmalonic aciduria	ORPHA:51188
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Polycystic ovaries, Tubulo...	ORPHA:79259
Nephronophthisis 4	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub...	OMIM:606966
Congenital Enterovirus Infection	Hypotension, Fetal ascites, Abnormal bleeding, Hepatic failure, Cardiomyopathy, Hepatitis, Respir...	ORPHA:292
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Tetanus	Elevated urinary norepinephrine level, Respiratory distress, Tachypnea, Elevated urinary epinephr...	ORPHA:3299
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:611126
Idiopathic Pulmonary Arterial Hypertension	Edema of the dorsum of feet, Congestive heart failure, Tricuspid regurgitation, Palpitations, Inc...	ORPHA:275766
Leukodystrophy, Hypomyelinating, 4	Increased circulating lactate concentration, Ethylmalonic aciduria	OMIM:612233
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Lactic acidosis, Hyperl...	OMIM:232200
Laryngomalacia	Respiratory distress	OMIM:150280
Addison Disease	Failure to thrive, Hyperkalemic metabolic acidosis, Hyperuricemia, Hyponatremia, Decreased circul...	ORPHA:85138
Intermediate Uveitis	Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H...	ORPHA:445038
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Increased circulating lactate concentration, Ketonuria, Failure to thrive, Lactic ac...	OMIM:220111
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Dysphagia, Loss of ambulation, Ataxia	OMIM:620166
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased circulating lactate concentration, Lactic acidosis, Hyperglycinemia, Hyperalaninemia, S...	OMIM:619059
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Difficulty walking, Dyspnea, Waddling gait	ORPHA:86812
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Intrauterine growth retardation, Vesicoureteral reflux, Proportionate short...	ORPHA:3208
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Weight loss, Abnormality of the kidney	ORPHA:767
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria, Failure to thrive, Large for gestational age, Lactic acidosis	OMIM:614520
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Apnea, Metabolic acidosis, Hepatomegaly, Dyspnea, Hyperventilation, T...	OMIM:229700
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased circulating lactate concentration, Respiratory distress, Hypertrophic cardiomyopathy, L...	OMIM:604377
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Jaundice, Hepatosplenomegaly	ORPHA:33574
Autosomal Agammaglobulinemia	Hepatitis, Dehydration	ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 59	Increased circulating lactate concentration, Hyperalaninemia, Failure to thrive, Dicarboxylic aci...	OMIM:620646
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Acidosis, Abnormal circulating cholesterol concentration, Hypernatriuria, F...	ORPHA:168558
Acute Peripheral Arterial Occlusion	Acidosis	ORPHA:90064
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Hydroureter, Functional abnormality of the bladder, Hypernatremic dehydration,...	ORPHA:223
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Metabolic acidosis, Hyponatremia, Polyuria, Hypert...	OMIM:618183
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Alkalosis, Metabolic alkalosis, Dehydration	OMIM:214700
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Abnormality of the mitochondrion, Cachex...	ORPHA:298
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased circulating lactate concentration, Mildly elevated creatine kinase	ORPHA:663
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Elevated circulating aspart...	OMIM:614034
Campomelia, Cumming Type	Polysplenia, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease	OMIM:211890
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Tubulointerstitial fibrosis	OMIM:263000
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Ventricular fibrillation, ST segment elevation, Hypertrophic cardiomyopathy, Asc...	OMIM:261740
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Acidosis, Abnormal circulating cholesterol concentration, Hypernatriuria, F...	ORPHA:289548
Brown-Vialetto-Van Laere Syndrome 2	Aggressive behavior, Dysphagia, Organic aciduria, Ataxia	OMIM:614707
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat...	OMIM:616263
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ...	OMIM:614300
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea, Right ventricular failure	ORPHA:70589
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Abnormal renal collecting system morphology, Growth delay, Methylma...	ORPHA:17
Multiple Endocrine Neoplasia Type 1	Increased circulating cortisol level, Primary hypercortisolism, Nephrolithiasis, Hypercalciuria, ...	ORPHA:652
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e...	ORPHA:199241
Paganini-Miozzo Syndrome	Urinary incontinence, Increased circulating lactate concentration, Hyperalaninemia, Elevated lact...	OMIM:301025
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Hematuria, In...	ORPHA:90308
Glycogen Storage Disease 0, Liver	Increased circulating lactate concentration	OMIM:240600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Coenzyme Q10 Deficiency, Primary, 2	Increased circulating lactate concentration, Obesity, Overweight, Elevated lactate:pyruvate ratio	OMIM:614651
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Dysphagia, Hypoplastic spleen	ORPHA:89844
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Glandular hypospadias, Polyhydramnios, Penile hypospadias, Neonatal death, ...	OMIM:300219
Lamellar Ichthyosis	Renal insufficiency, Dehydration	ORPHA:313
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Increased circulating lactate concentration, Hepatic failure, Elevated circulating hepa...	OMIM:203700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, R...	ORPHA:90791
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:276621
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Shigellosis	Hypovolemic shock, Acute kidney injury, Hepatic failure, Urethritis, Cholestasis, Peritonitis, Sp...	ORPHA:810
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Weight loss, Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis, Abdominal obesity	OMIM:615980
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Increased circulating lactate concentration, Ketonuria, Lactic acidosis, 3-Methylglutaconic acidu...	OMIM:251900
Bloom Syndrome	Chromosome breakage, Small for gestational age, Abnormality of chromosome stability, Postnatal gr...	OMIM:210900
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Cachexia, Hypocalcemia, Renal hypoplasia/aplasia	ORPHA:1438
Harlequin Ichthyosis	Sudden cardiac death, Dehydration	ORPHA:457
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Lactic acidosis, Renal ...	OMIM:232240
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Micropenis, Death in childhood	OMIM:615597
Coenzyme Q10 Deficiency, Primary, 5	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis, Hy...	OMIM:614654
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Hepatic steatos...	OMIM:243910
Combined Oxidative Phosphorylation Deficiency 2	Increased circulating lactate concentration, Lactic acidosis, Small for gestational age	OMIM:610498
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome	ORPHA:330001
Focal Myositis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased circulating lactate concentration, Increased serum pyruvate, Hyperalaninemia, Lactic ac...	OMIM:617668
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Elevated pulmonary artery pressure, Edema	OMIM:178400
Majeed Syndrome	Failure to thrive, Proteinuria, Glomerulopathy, Cachexia, Weight loss, Microscopic hematuria	ORPHA:77297
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis	OMIM:245349
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hepatic steatosis	ORPHA:363400
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Failure to thrive, Lactic acidosis, Metabolic acidos...	OMIM:618226
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased circulating lactate concentration, Lactic acidosis, Elevated hepatic iro...	OMIM:614946
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Increased circulating lactate concentration, Elevated urine acetoacetic acid level, Alpha-aminoad...	OMIM:620089
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79322
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia	ORPHA:2430
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Neoplasm...	ORPHA:2959
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short stature, Increased circulating lactate concentration, Failure to thrive, Decreased body weight	OMIM:619060
Isaacs Syndrome	Weight loss	ORPHA:84142
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Splenomegaly, Polycystic ovaries, Glomerulopathy, Pancreatitis, Hepatomegaly	ORPHA:2348
Alfadhel Syndrome	Horseshoe kidney, Aggressive behavior, Nasal flaring	OMIM:620655
Coenzyme Q10 Deficiency, Primary, 4	Increased circulating lactate concentration, Lactic acidosis, Elevated lactate:pyruvate ratio	OMIM:612016
Williams Syndrome	Failure to thrive in infancy, Obesity, Renal insufficiency, Renal duplication, Multiple renal cys...	ORPHA:904
Mitochondrial Complex I Deficiency, Nuclear Type 39	Intrauterine growth retardation, Lactic acidosis, Hypospadias, Small for gestational age	OMIM:620135
Hereditary Central Diabetes Insipidus	Weight loss, Growth delay	ORPHA:30925
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:142
Diaphanospondylodysostosis	Respiratory distress, Multiple renal cysts	ORPHA:66637
Congenital Disorder Of Glycosylation, Type Ie	Elevated circulating hepatic transaminase concentration, Respiratory distress, Splenomegaly, Atax...	OMIM:608799
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thrive in infa...	OMIM:194050
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Purpura, Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Seckel Syndrome 10	Severe short stature, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circul...	OMIM:617253
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Postnatal growth retardation, Truncal obesity, Abdominal obesity	OMIM:618160
Congenital Disorder Of Glycosylation, Type Iibb	Increased circulating lactate concentration, Failure to thrive	OMIM:620546
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis	OMIM:613877
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Severe Generalized Junctional Epidermolysis Bullosa	Duplicated collecting system, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, ...	ORPHA:79404
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Increased circulating lactate concentration, Hyperalaninemia, Hyper...	OMIM:619064
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Bacterial Toxic-Shock Syndrome	Increased circulating lactate concentration, Hypotension, Edema, Hepatitis, Recurrent urinary tra...	ORPHA:36234
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis	OMIM:619351
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperech...	ORPHA:456312
Sarcoidosis, Susceptibility To, 1	Hypercalciuria, Weight loss	OMIM:181000
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Euthyroid goiter	ORPHA:3327
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Increased circulating lactate concentration, Failure to thrive, Lactic acidosis,...	OMIM:618329
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Glycerol Kinase Deficiency	Increased circulating lactate concentration, Ketoacidosis, Increased urinary glycerol, Metabolic ...	OMIM:307030
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pericardial effusion, Dyspnea, Pleural effusion	ORPHA:411703
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Oligohydramnios	ORPHA:1143
Moebius Syndrome	Respiratory distress, Gait disturbance, Micropenis, Dysphagia, Dysdiadochokinesis	OMIM:157900
Bardet-Biedl Syndrome 17	Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis	OMIM:615994
Al Amyloidosis	Hypoalbuminemia, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Increased...	ORPHA:85443
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Lethargy, Tachypnea, Addictive alcohol use, Dyspnea	ORPHA:36238
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cryptorchidism, Eleva...	OMIM:615381
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Diabetes Mellitus, Permanent Neonatal, 3	Small for gestational age, Ketonuria, Glycosuria	OMIM:618857
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Growth delay, Hyperphosphaturia, Hypocalcemia	ORPHA:89937
X-Linked Centronuclear Myopathy	Respiratory distress, Polyhydramnios	ORPHA:596
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, P...	ORPHA:263455
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, De...	OMIM:614924
Mercury Poisoning	Respiratory distress, Acute kidney injury, Dyspnea, Anorexia	ORPHA:330021
Inhalational Anthrax	Respiratory distress, Hypotension, Dyspnea, Internal hemorrhage	ORPHA:247257
Hsd10 Mitochondrial Disease	Metabolic acidosis, Lactic acidosis, Elevated circulating tiglylglycine concentration	OMIM:300438
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Delayed menarche, Increased circulating lactate concentration	ORPHA:330050
Osteogenesis Imperfecta	Rhizomelia, Intrauterine growth retardation, Nephrolithiasis, Hypercalciuria, Short stature, Grow...	ORPHA:666
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:435651
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Leigh Syndrome	Generalized aminoaciduria, Increased circulating lactate concentration, Ketoacidosis, Methylmalon...	ORPHA:506
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ...	ORPHA:1329
Pseudohypoaldosteronism, Type Iic	Metabolic acidosis, Decreased circulating renin level, Hyperchloremia, Hyperkalemia, Hyperchlorem...	OMIM:614492
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ...	OMIM:613550
Familial Chylomicronemia Syndrome	Failure to thrive, Hepatosplenomegaly, Hepatic steatosis, Decreased body weight, Perianal abscess...	ORPHA:444490
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Anorexia	ORPHA:1302
Beta-Ureidopropionase Deficiency	Increased circulating lactate concentration, Elevated urinary ureidopropionic acid level, Metabol...	OMIM:613161
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ...	OMIM:619418
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Low-molecular-weight...	OMIM:309000
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminase concentration, ...	OMIM:212065
Infant Acute Respiratory Distress Syndrome	Hypotension, Cardiac arrest, Pulmonary edema, Tachypnea, Bradycardia, Tachycardia, Nasal flaring	ORPHA:70587
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Xfe Progeroid Syndrome	Hypoalbuminemia, Severe short stature, Failure to thrive, Renal insufficiency, Proteinuria, Cachexia	OMIM:610965
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Hypercalcemia	OMIM:612089
Combined Oxidative Phosphorylation Deficiency 33	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis, El...	OMIM:617713
Pulmonary Hypertension, Primary, 3	Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary...	OMIM:615343
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypocalciuria, Disproportionate short stature, Hypophosphatemia, Growth ...	ORPHA:89936
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar...	ORPHA:635
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Increased serum pyruvate, Metabolic acidosis	OMIM:618225
Liposarcoma	Weight loss, Abnormality of the kidney	ORPHA:69078
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Renal tubular dysfunction, Hypophosphatemia, S...	OMIM:307800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy...	ORPHA:90795
Acquired Central Diabetes Insipidus	Weight loss, Pollakisuria	ORPHA:95626
Multiple Mitochondrial Dysfunctions Syndrome 6	Increased circulating lactate concentration, Failure to thrive	OMIM:617954
Cirrhosis, Familial	Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Pulmona...	OMIM:215600
Cirrhotic Cardiomyopathy	Abnormal bleeding, Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventric...	ORPHA:57777
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceride...	ORPHA:90041
Cardiomyopathy, Dilated, 2C	Increased circulating lactate concentration	OMIM:618189
Avian Influenza	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Congesti...	ORPHA:454836
Diaphanospondylodysostosis	Nephrogenic rest, Respiratory distress, Nephroblastomatosis, Horseshoe kidney, Enlarged kidney, C...	OMIM:608022
Eisenmenger Syndrome	Elevated jugular venous pressure, Hepatomegaly, Pedal edema, Right ventricular failure, Tricuspid...	ORPHA:97214
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Lactic acidosis, Renal tubular acidosis, Elevated circulating creat...	ORPHA:79240
Secondary Short Bowel Syndrome	Cholestasis, Dehydration	ORPHA:95427
Gaucher Disease, Perinatal Lethal	Hepatic failure, Respiratory distress, Akinesia, Apnea, Hepatosplenomegaly, Splenomegaly, Neonata...	OMIM:608013
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Oligohydramnios	ORPHA:261304
19P13.12 Microdeletion Syndrome	Intrauterine growth retardation, Obesity, Hepatic steatosis, Cryptorchidism, Hypospadias, Cleft p...	ORPHA:254346
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased circulating lactate concentration, Lactic acidosis	OMIM:618236
Garg-Mishra Progeroid Syndrome	Short stature, Postnatal growth retardation, Increased circulating lactate dehydrogenase concentr...	OMIM:620601
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased urinary cortisol level, Macronodular adrenal hyperplasia, Hepatic st...	ORPHA:189427
Q Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Respiratory distr...	ORPHA:781
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:29072
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Weight loss, Abnormality of the kidney	ORPHA:54251
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, Intrauterine g...	ORPHA:66634
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Renal tubular acidosis, Metabolic acidosis	ORPHA:79155
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Inability to walk, Gait ataxia, Attention deficit hyperactivity disorder, H...	OMIM:619383
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Respiratory distress, Inability to walk, Death in ...	OMIM:617303
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea	OMIM:250900
Igg4-Related Aortitis	Hydronephrosis, Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:449400
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Pancreatitis, Hepatomegaly	ORPHA:79083
Oromandibular Dystonia	Respiratory distress, Bruxism, Dysphagia	ORPHA:93958
Myopathy With Lactic Acidosis, Hereditary	Increased circulating lactate concentration, Myoglobinuria, Lactic acidosis, Elevated circulating...	OMIM:255125
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Increased circulating lactate concentration, Delayed puberty, 3-Methylglutaconic aciduria	ORPHA:496790
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Abnormal pattern of respiration	ORPHA:833
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Increased circulating lactate concentration, Stress/infection-induced lactic acido...	OMIM:252011
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Renal agenesis, Hors...	OMIM:227646
Acquired Generalized Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Proteinuria, Cirrhosis, Hepatomegaly, Panniculitis, Acute ...	ORPHA:79086
Congenital Generalized Lipodystrophy	Failure to thrive, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hepatomegaly, Macroglossia	ORPHA:528
Acute Liver Failure	Acidosis, Acute kidney injury, Alkalosis, Hyperammonemia	ORPHA:90062
Hereditary Angioedema Type 1	Facial edema, Hypotension, Respiratory distress, Tongue edema, Laryngeal edema, Edema of the dors...	ORPHA:100050
Coenzyme Q10 Deficiency, Primary, 7	Increased circulating lactate concentration, Intrauterine growth retardation	OMIM:616276
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Episodic Ataxia Type 1	Respiratory distress, Tip-toe gait, Choreoathetosis	ORPHA:37612
Castleman Disease	Ureteral obstruction, Renal insufficiency, Hematuria, Weight loss, Elevated circulating C-reactiv...	ORPHA:160
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipid concentra...	ORPHA:2298
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Increased circulating lactate concentration, Glycosuria, Failure to thrive, Lactic acidosis, Rena...	OMIM:616539
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Increased circulating lactate concentration, Lactic acidosis	ORPHA:139485
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss	ORPHA:2126
Neurodegeneration With Brain Iron Accumulation 8	Increased circulating lactate concentration	OMIM:617917
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Fa...	OMIM:615838
Congenital Tufting Enteropathy	Cholestatic liver disease, Dehydration	ORPHA:92050
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Organic aciduria, Intrauterine growth retardation, Weight loss, Short stature, Increased erythroc...	OMIM:301310
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating lactate concentration, Failure to thrive, Increased circulating ferritin co...	OMIM:600462
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperprolinemia, Increased circulating lactate concentration, Hyperalaninemia	OMIM:619170
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,...	ORPHA:363705
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Mitochondrial Complex I Deficiency, Nuclear Type 32	Increased circulating lactate concentration, Failure to thrive, Metabolic acidosis, Hyponatremia,...	OMIM:618252
Meconium Aspiration Syndrome	Respiratory distress, Pulmonary insufficiency, Pulmonary arterial hypertension, Abnormal heart ra...	ORPHA:70588
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Increased circulating lactate concentration, Obesity, Elevated circulating creatine kinase concen...	OMIM:615418
Yao Syndrome	Weight loss, Nephrolithiasis	OMIM:617321
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Erythrokeratodermia Variabilis	Short stature, Weight loss	ORPHA:317
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Urinary retention, Hypomagnesemia, Obesity, Decreased urinary potassium, We...	ORPHA:79102
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Cardiac conduction abnormality, Arr...	ORPHA:2131
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Obesity, Organic aciduria, Abnormal circulating acylcarnitine concentration	OMIM:620191
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel...	ORPHA:261265
Mitochondrial Complex I Deficiency, Nuclear Type 17	Increased circulating lactate concentration, Lactic acidosis	OMIM:618239
Fixed Subaortic Stenosis	Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit...	ORPHA:3092
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Steatorrhea, Weight loss, Hypoalbuminemia	ORPHA:2070
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Lactic acidosis, Elevated circulating creatine kinase concent...	OMIM:607426
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Intrauterine growth retardation, Lactic acidosis, Elevated ...	OMIM:618838
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Metabolic acidosis, ...	ORPHA:469
Combined Oxidative Phosphorylation Deficiency 13	Increased circulating lactate concentration, Growth delay	OMIM:614932
Hirschsprung Disease	Failure to thrive in infancy, Weight loss, Short stature	ORPHA:388
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Polyhydramnios	ORPHA:2759
Dysbetalipoproteinemia	Obesity, Gout, Hepatic steatosis, Renal steatosis, Hepatomegaly, Acute pancreatitis	ORPHA:412
Hypoglossia With Situs Inversus	Respiratory distress, Asplenia, Polysplenia	OMIM:612776
Mody	Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Large...	ORPHA:552
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Bone Marrow Failure Syndrome 3	Chromosome breakage, Eczematoid dermatitis, Failure to thrive, Exocrine pancreatic insufficiency,...	OMIM:617052
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
D-Lactic Aciduria With Gout	Elevated urine D-lactate level, Lacticaciduria	OMIM:245450
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Proteinur...	ORPHA:829
Choanal Atresia	Respiratory distress, Choking episodes	ORPHA:137914
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Elevated circulating hexacosanoic acid concentration, Increased circulating lactate concentration...	OMIM:614388
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased circulating lactate concentration, Lactic acidosis	OMIM:618230
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Restlessness, Oral-pha...	OMIM:615273
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Brain-Lung-Thyroid Syndrome	Falls, Megacystis, Respiratory distress, Abnormal eating behavior, Vesicoureteral reflux, Abnorma...	ORPHA:209905
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Hematuria...	ORPHA:1018
Renpenning Syndrome	Severe short stature, Cachexia, Hypospadias, Growth delay	ORPHA:3242
Aredyld Syndrome	Short stature, Abnormality of the ureter, Cachexia, Intrauterine growth retardation	ORPHA:1133
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Simple Cryoglobulinemia	Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Weight loss, Abnormality...	ORPHA:91139
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachycardia, Tachypnea	ORPHA:264675
Pancreatic Agenesis 1	Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insufficiency, Intrauterine growth ...	OMIM:260370
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased circulating lactate concentration, Metabolic acidosis	OMIM:617290
Combined Oxidative Phosphorylation Deficiency 54	Increased circulating lactate concentration, Intrauterine growth retardation, Obesity, Elevated l...	OMIM:619737
Bohring-Opitz Syndrome	Failure to thrive, Supernumerary nipple, Intestinal malrotation, Intrauterine growth retardation,...	OMIM:605039
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Immunodeficiency 27A	Hypoalbuminemia, Weight loss	OMIM:209950
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:613327
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Increased circulating lactate concentration, Hyperalaninemia, Micropenis, Short stature, Small fo...	OMIM:619847
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Hepatic ...	OMIM:261515
Combined Oxidative Phosphorylation Deficiency 32	Horseshoe kidney, Increased circulating lactate concentration, Lactic acidosis	OMIM:617664
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss, Growth delay	OMIM:266600
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Increased circulating lactate concentration	OMIM:615159
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Failure to thrive in infancy, Increased circulating lactate concentration, Growth delay	OMIM:619026
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran...	OMIM:619525
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Metabolic acidosis, Myoglobinuria, Hyperkalemia, Elevated...	ORPHA:423
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Hyperkalemia, Hypernatriuria, Failure to thrive, Hyperkalemic metabolic acidosis, Hyp...	ORPHA:90794
Mitochondrial Complex I Deficiency, Nuclear Type 12	Increased circulating lactate concentration	OMIM:301020
Fatal Familial Insomnia	Weight loss, Urinary retention	OMIM:600072
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Increased circulating lactate concentration, Metabolic alkalo...	OMIM:616239
Triosephosphate Isomerase Deficiency	Cholelithiasis, Respiratory distress, Cholecystitis, Death in infancy, Splenomegaly, Death in ado...	OMIM:615512
Huntington Disease-Like 2	Weight loss	OMIM:606438
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Edema of the dorsum of hands, Edema of the dorsum of feet	ORPHA:544503
Mogs-Cdg	Generalized edema, Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Pulmonary ed...	ORPHA:79330
Shwachman-Diamond Syndrome 2	Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, High...	OMIM:617941
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis, Metabolic acidosis	OMIM:614496
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small for gestational age, Elevated circulating hepatic transaminase concentration, Failure to th...	OMIM:613658
Stt3B-Cdg	Respiratory distress, Micropenis	ORPHA:370924
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Abnormal circulating lipid concentration, Hyperlipoproteinemia	ORPHA:1979
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o...	OMIM:200995
Chitayat Syndrome	Respiratory distress, Polyhydramnios	OMIM:617180
Tularemia	Respiratory distress, Tachycardia, Pleural effusion	ORPHA:3392
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi...	ORPHA:98907
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Respiratory distress, Hypertrophic cardiomyopathy, Shortened PR interval, Lef...	ORPHA:308552
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Atelosteogenesis Type I	Rhizomelia, Neonatal short-trunk short stature, Multiple renal cysts, Malrotation of colon, Cleft...	ORPHA:1190
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Oncogenic Osteomalacia	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Hypocalcemia	ORPHA:352540
Scorpion Envenomation	Pulmonary edema, Premature ventricular contraction, Tachypnea, Arrhythmia, Tachycardia, Purpura, ...	ORPHA:466677
Combined Oxidative Phosphorylation Defect Type 13	Increased circulating lactate concentration, Intrauterine growth retardation, Failure to thrive	ORPHA:319514
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Hydron...	ORPHA:210122
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Monosomy 13Q34	Obesity, Fetal pyelectasis, Hepatic steatosis, Growth delay	ORPHA:96168
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis	OMIM:617994
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index	ORPHA:399
Spinocerebellar Ataxia With Epilepsy	Increased circulating lactate concentration, Hyperalaninemia	ORPHA:254881
Congenital Myasthenic Syndrome	Tip-toe gait, Difficulty walking, Episodic respiratory distress, Ataxia, Apneic episodes precipit...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Tip-toe gait, Difficulty walking, Episodic respiratory distress, Ataxia, Apneic episodes precipit...	ORPHA:98914
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Orthopnea, Pedal edema, Systolic heart murmur, Right ventricula...	ORPHA:99103
Striatonigral Degeneration, Infantile, Mitochondrial	Increased circulating lactate concentration	OMIM:500003
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie...	ORPHA:182050
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Respiratory distress, Neonatal death, Pulmonary arterial hypertension, ...	OMIM:616482
Microsporidiosis	Nephritis, Hepatitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system ph...	ORPHA:2552
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami...	OMIM:619481
Odontochondrodysplasia 1	Respiratory distress, Nephronophthisis, Polycystic kidney dysplasia, Death in infancy	OMIM:184260
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Microscopic hematuria	ORPHA:71273
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu...	OMIM:162000
Friedreich Ataxia 2	Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced	OMIM:601992
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic...	OMIM:267010
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Respiratory distress, Difficulty walking, Tachypnea, Ataxia, Choreoathetosis	OMIM:610978
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Elevated hepatic iron concentration, Abnor...	ORPHA:48818
Leigh Syndrome, Nuclear	Increased circulating lactate concentration, Lactic acidosis, Failure to thrive	OMIM:256000
Schimmelpenning-Feuerstein-Mims Syndrome	Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Short stature, Growth delay	OMIM:163200
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati...	OMIM:167800
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Poly...	ORPHA:329178
Necrotizing Enterocolitis	Acidosis, Increased circulating lactate concentration, Metabolic acidosis, Hyponatremia, Small fo...	ORPHA:391673
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Amish Lethal Microcephaly	Organic aciduria, Metabolic acidosis	ORPHA:99742
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Growth delay, Failure to thrive, Vesicoureteral reflux, Metabolic acidosis, Elevated circulating ...	OMIM:615895
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh...	ORPHA:2299
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroiditis, Pancreatic...	ORPHA:64744
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hyperchloremic acidosis	OMIM:145260
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Teratoma, Pineal	Polyuria	OMIM:273120
Leishmaniasis	Hypoalbuminemia, Weight loss	ORPHA:507
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Small for gestatio...	OMIM:619573
Pontocerebellar Hypoplasia, Type 6	Increased circulating lactate concentration, Failure to thrive	OMIM:611523
Thyrocerebroretinal Syndrome	Nephritis, Goiter	OMIM:274240
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
X-Linked Agammaglobulinemia	Short stature, Weight loss, Hypocalcemia, Failure to thrive	ORPHA:47
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia	ORPHA:398063
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Portal fibrosis, Angioedema, Congestive heart failure...	ORPHA:3260
Vipoma	Intrahepatic cholestasis, Ascites, Neoplasm of the pancreas, Intermittent jaundice, Neoplasm of t...	ORPHA:97282
Feingold Syndrome	Annular pancreas, Abnormality of the spleen, Esophageal atresia, Short stature, Duodenal atresia	ORPHA:1305
Combined Oxidative Phosphorylation Defect Type 27	Increased circulating lactate concentration	ORPHA:477774
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Intrauterine growth retardation, Chi...	OMIM:615846
Alpha-2-Plasmin Inhibitor Deficiency	Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility	OMIM:262850
Anemia, Congenital Dyserythropoietic, Type Iv	Hyperbilirubinemia, Reduced haptoglobin level, Weight loss, Short stature, Micropenis, Unconjugat...	OMIM:613673
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice, Bradycardia	ORPHA:226313
Mcdonough Syndrome	Short stature, Cachexia	ORPHA:2471
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Abnormality of the urinary system, Short stature	ORPHA:702
Leptospirosis	Hypotension, Acute kidney injury, Hepatitis, Respiratory distress, Pulmonary hemorrhage, Pleural ...	ORPHA:509
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Proteinuria	OMIM:603585
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Nephrotic syndrome, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Hype...	ORPHA:505248
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Ethylmalonic aciduria, Episodic metabolic acidosis	OMIM:201470
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Small for gestational age,...	OMIM:615935
Polymyositis	Abnormal renal tubule morphology, Weight loss, Elevated circulating creatine kinase concentration	ORPHA:732
Acute Promyelocytic Leukemia	Hematuria, Weight loss	ORPHA:520
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Palpebral edema, Polyhydramnios, Fetal pyelectasis	ORPHA:50810
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Exertional dyspnea, Dysphagia, Waddling gait	ORPHA:98915
Radio-Renal Syndrome	Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Respiratory distress, Pleural effusion...	ORPHA:3015
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Lact...	OMIM:252010
Tyrosinemia, Type Iii	Elevated circulating hepatic transaminase concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydro...	OMIM:276710
Distal Deletion 12Q	High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Growth delay, Unilateral ...	ORPHA:96149
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Renal dyspl...	OMIM:314300
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Horseshoe kidney, Pyelonep...	OMIM:301111
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Micropenis, Hypocholesterolemia, Increased circulating lactate concentration	OMIM:618810
Imerslund-Gräsbeck Syndrome	Proteinuria, Weight loss, Failure to thrive	ORPHA:35858
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Hematuria, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemo...	ORPHA:99827
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Severe short-limb dwarfism, Weight loss, Failure to thrive	ORPHA:1842
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased circulating lactate concentration, Failure to thrive, Metabolic acidosis	ORPHA:88639
Celiac Disease, Susceptibility To, 1	Failure to thrive, Postnatal growth retardation, Hypocalcemia, Weight loss, Delayed puberty, Stea...	OMIM:212750
Silver-Russell Syndrome	Abnormality of the urinary system, Failure to thrive in infancy, Postnatal growth retardation, Ob...	ORPHA:813
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Immunodeficiency 44	Increased circulating lactate concentration	OMIM:616636
Methanol Poisoning	Hyperlipidemia, Metabolic acidosis	ORPHA:31825
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of the urethra, ...	ORPHA:537
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration	OMIM:616479
Campomelia, Cumming Type	Multicystic kidney dysplasia, Abnormal intestine morphology, Multiple renal cysts, Hepatomegaly, ...	ORPHA:1318
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Sho...	ORPHA:289176
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Generalized edema	OMIM:271225
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Po...	ORPHA:284
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Intrauterine growth retardation,...	OMIM:610199
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased circulating lactate concentration, Increased serum pyruvate	ORPHA:1349
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Respi...	ORPHA:333
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:435660
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis, Polyhydramnios	ORPHA:990
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Failure to thrive in infancy, Chronic hepatic failure, Hypoparathyroidism, Diffuse h...	ORPHA:746
Follicular Lymphoma	Weight loss	ORPHA:545
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Growth delay, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia	ORPHA:90362
Hughes-Stovin Syndrome	Vasculitis, Pulmonary embolism, Pulmonary arterial hypertension, Dyspnea, Pedal edema	ORPHA:228116
Dend Syndrome	Dehydration	ORPHA:79134
Leber Optic Atrophy And Dystonia	Increased circulating lactate concentration	OMIM:500001
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Hepatic cysts, Membranous nephropathy, Nephrotic syndrome, Eosinophilic liver...	OMIM:618999
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Esophag...	OMIM:615356
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Increased circulating lactate concentration, Spastic/hyperactive bladder	ORPHA:137898
Cystic Echinococcosis	Renal cyst, Hyperbilirubinemia, Membranous nephropathy, Weight loss	ORPHA:400
Agnathia-Otocephaly Complex	Respiratory distress, Polyhydramnios	OMIM:202650
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Primary hypercortisolism, Hyperpho...	ORPHA:562
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia	ORPHA:2494
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Increased circulating lactate concentration, Hyperalaninemia, Lacticaciduria	OMIM:620451
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Dysphagia, Death in childhood, Death in infancy	OMIM:620278
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Failure to thrive, Pancreatic fibrosis	OMIM:615503
Tuberous Sclerosis Complex	Self-injurious behavior, Chronic kidney disease, Respiratory distress, Stage 5 chronic kidney dis...	ORPHA:805
Wolman Disease	Steatorrhea, Cachexia, Growth delay	ORPHA:75233
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased circulating lactate concentration, Increased serum pyruvate, Elevated circulating creat...	OMIM:619405
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Annular pancreas, Eczematoid dermatitis, Elevated circulating alka...	OMIM:618162
Charcot-Marie-Tooth Disease, Type 4K	Increased circulating lactate concentration	OMIM:616684
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Micropenis	ORPHA:2519
Giant Cell Arteritis	Hematuria, Weight loss, Renal insufficiency	ORPHA:397
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Polyhydramnios, Micropenis, Hypospadias, Edema	OMIM:607143
Pyomyositis	Weight loss, Renal insufficiency	ORPHA:764
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Lactic acidosis, Metabolic acidosis	OMIM:616501
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress	ORPHA:1145
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Joint swelling, Splenomegaly	OMIM:612852
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys...	OMIM:608594
Late-Onset Isolated Acth Deficiency	Failure to thrive, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Weight loss...	ORPHA:199299
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hepati...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hepati...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hepati...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hepati...	ORPHA:881
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Intrauterine growth retardat...	OMIM:619321
Nasolacrimal Duct Cyst	Periorbital edema, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Lactic acidosis, Growth delay	OMIM:616084
Stevens-Johnson Syndrome	Abnormality of the urethra, Renal insufficiency, Weight loss, Hypokalemic metabolic alkalosis, Dy...	ORPHA:36426
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Increased circulating lactate concentration, Gland...	OMIM:620306
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal...	OMIM:211900
8P23.1 Microdeletion Syndrome	Growth delay, Intrauterine growth retardation, Obesity, Weight loss, Short stature, Hypospadias	ORPHA:251071
Perry Syndrome	Weight loss	ORPHA:178509
19Q13.11 Microdeletion Syndrome	Growth delay, Failure to thrive, Intrauterine growth retardation, Cachexia, Hypospadias	ORPHA:217346
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Hepatic steatosis, Cryptorchidism, Cirrhosis, Micropenis, Duplicated coll...	OMIM:270400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Polyhydramnios, Stillbirth	OMIM:151210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Intrauterine growth retardation, Cachexia	OMIM:616801
Tetrasomy 5P	Respiratory distress, Heart murmur, Pulmonary arterial hypertension, Congestive heart failure	ORPHA:3309
Pfapa Syndrome	Weight loss	ORPHA:42642
Xanthinuria, Type I	Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithiasis, Reduced ...	OMIM:278300
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Hepatic steatosis, Cryptorchidism, P...	ORPHA:110
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Respiratory distress, Difficulty walking, Inability to walk, Exertional dyspn...	ORPHA:365
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Increased circulating lactate d...	ORPHA:93552
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Slender build, Lactic acidosis, Cachexia, Weight...	OMIM:603041
Erdheim-Chester Disease	Xanthelasma, Renal insufficiency, Hydronephrosis, Weight loss, Dysuria	ORPHA:35687
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Generalized edema, Pulmonary embolism, Budd-Chiari syndrome, Ascites, Hepatomegaly, Edema	OMIM:226300
Mitochondrial Dna Depletion Syndrome 19	Increased circulating lactate concentration, Hypospadias	OMIM:618972
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria	ORPHA:30
Postinfectious Vasculitis	Elevated haptoglobin level, Hematuria, Proteinuria, Abnormal circulating protein concentration, W...	ORPHA:48435
Aromatase Deficiency	Obesity, Eunuchoid habitus, Hepatic steatosis, Cryptorchidism, Enlarged polycystic ovaries, Macro...	ORPHA:91
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Mosaic Trisomy 9	Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypoplasia of penis, Renal dysp...	ORPHA:99776
Optic Atrophy 11	Short stature, Increased circulating lactate concentration, Mildly elevated creatine kinase	OMIM:617302
Opsismodysplasia	Renal phosphate wasting, Rhizomelia, Hypophosphatemia, Disproportionate short-limb short stature	OMIM:258480
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	ORPHA:14
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys...	OMIM:269700
Fryns Syndrome	Ectopic pancreatic tissue, Meckel diverticulum, Renal agenesis, Polysplenia, Intestinal malrotati...	OMIM:229850
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Developmental And Epileptic Encephalopathy 51	Increased circulating lactate concentration, Failure to thrive, Elevated lactate:pyruvate ratio	OMIM:617339
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis, W...	ORPHA:900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized aminoaciduria, Nodular regenerative hyperplasia of liver, Elevated circulating hepati...	ORPHA:404454
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly	ORPHA:280365
X-Linked Creatine Transporter Deficiency	Short stature, Cachexia, Abnormal circulating creatine concentration	ORPHA:52503
Melas	Nephropathy, Focal segmental glomerulosclerosis, Increased circulating lactate concentration, Pro...	ORPHA:550
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
1P36 Deletion Syndrome	Annular pancreas, Failure to thrive, Abnormality of the spleen, Abnormality of the liver, Obesity...	ORPHA:1606
Coccidioidomycosis	Vasculitis, Vasospasm, Respiratory distress, Exudative pleural effusion, Abnormality of the splee...	ORPHA:228123
Mitochondrial Phosphate Carrier Deficiency	Lactic acidosis, Metabolic acidosis	OMIM:610773
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ...	ORPHA:1677
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypophosphaturia, Hypocalciuria	ORPHA:73223
Polycythemia Vera	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib...	ORPHA:729
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Ataxia	OMIM:618426
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Elevated transferrin saturation, Weight loss, Increased circulat...	ORPHA:465508
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, Renal dysplasia, High, narr...	OMIM:188400
Felty Syndrome	Weight loss, Recurrent urinary tract infections	ORPHA:47612
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Increased circulating lactate concentration, Failure to thrive, Elevated circulating creatine kin...	OMIM:610131
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated gamma-glutamyltransferase level, Exocrine pancreatic insufficiency, Intrauterine growth ...	OMIM:618500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Large for gestational age, Vesicoureteral reflux, Elevated circulat...	OMIM:300868
Kniest Dysplasia	Respiratory distress, Gait disturbance	OMIM:156550
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Pancreatic cyst...	ORPHA:564
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Vici Syndrome	Acidosis, Failure to thrive, Postnatal growth retardation, Penile hypospadias, Elevated circulati...	OMIM:242840
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea, Pulmonary arterial hypertension	OMIM:610913
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Increased circulating lactate concentration, Hyperalaninemia	OMIM:616896
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Weight loss, Intraalveolar phospholipid accumulation	ORPHA:747
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Distal renal tubular acidosis, Renal tubular acidosis, Hypocalcemia, Nephrolit...	ORPHA:2785
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis	OMIM:617710
Riddle Syndrome	Enuresis nocturna, Weight loss, Short stature, Elevated circulating alpha-fetoprotein concentration	ORPHA:420741
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Ataxia	ORPHA:438216
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Intrauterine growth retardation, Nephroblast...	ORPHA:97297
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Hyperglycinemia, Lactic Acidosis, And Seizures	Increased circulating lactate concentration, Lactic acidosis, Growth delay	OMIM:614462
Adnp Syndrome	Abnormal temper tantrums, Urinary incontinence, Oral-pharyngeal dysphagia, Recurrent urinary trac...	ORPHA:404448
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Hepatomegaly, Polyhyd...	OMIM:620369
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Pulmonary Alveolar Microlithiasis	Hematuria, Calcium nephrolithiasis, Increased circulating surfactant protein level, Weight loss	ORPHA:60025
Christianson Syndrome	Cachexia	ORPHA:85278
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Lymphoid Interstitial Pneumonia	Weight loss, Enlarged kidney, Failure to thrive	ORPHA:79128
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Unsteady gait, Reduced renal corticomedullary differentiation, Multiple ren...	OMIM:618733
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Oligohydramnios, Dehydration	ORPHA:96191
Harel-Yoon Syndrome	Increased circulating lactate concentration	OMIM:617183
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Apnea, Jaundice, Hepatomegaly, Palpebral edema, Intrahepatic biliary dysgenesis, P...	OMIM:214110
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Pancreatic fibrosis,...	OMIM:263520
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Renal tubular acidosis, Metabolic acidosis, Short stature, Overweight	OMIM:619575
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Intrauterine growth retardation, Hepatic steatosis, High palate	OMIM:619934
Listeriosis	Acute kidney injury, Liver abscess, Respiratory distress, Pyelonephritis, Cholecystitis, Peritoni...	ORPHA:533
Jacobsen Syndrome	Annular pancreas, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Hypospadias...	OMIM:147791
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia	ORPHA:300605
Pontocerebellar Hypoplasia, Type 9	Increased circulating lactate concentration	OMIM:615809
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Increased circulating lactate concentration, Failure to thrive, 3-Meth...	OMIM:617248
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Ankyloglossia, Intrauterine growth retardation, Duplicated collecting system, S...	ORPHA:488642
Japanese Encephalitis	Abnormal pattern of respiration, Respiratory distress, Irregular respiration, Anorexia, Choreoath...	ORPHA:79139
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea	ORPHA:2707
Netherton Syndrome	Hypernatremic dehydration, Angioedema	OMIM:256500
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration, Increased circulating lactate concentration	ORPHA:521411
Tetrasomy 12P	Short stature, Cachexia	ORPHA:884
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Cirrhosis, Retinal telangiectasia, Gastro...	ORPHA:774
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Graves Disease	Weight loss	OMIM:275000
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Malar rash, Splenomegaly, Hepatomegaly, Nephrotic syndrome	OMIM:603909
Orotic Aciduria	Failure to thrive, Oroticaciduria, Hematuria, Reduced orotidine 5-prime phosphate decarboxylase l...	OMIM:258900
Pancreatic Agenesis-Holoprosencephaly Syndrome	Decreased circulating lipoprotein lipase concentration, Intrauterine growth retardation, Absent g...	ORPHA:556955
Combined Oxidative Phosphorylation Deficiency 7	Increased circulating lactate concentration, Failure to thrive	OMIM:613559
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Short stature, Severe failure to thrive, Cachexia, Intrauterine growth retardation	ORPHA:371364
Mitochondrial Complex I Deficiency, Nuclear Type 28	Increased circulating lactate concentration, Hyperalaninemia, Failure to thrive	OMIM:618249
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress	OMIM:617895
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Respiratory distress, Splenic cyst, Polyhydramnios, Enlarged kidney	OMIM:618188
Jacobsen Syndrome	Multicystic kidney dysplasia, Annular pancreas, Eczematoid dermatitis, Intestinal malrotation, In...	ORPHA:2308
Thymic Carcinoma	Weight loss	ORPHA:99868
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Head-banging, Respiratory distress, Skin-picking, Attention deficit hyp...	ORPHA:177907
Cap Polyposis	Weight loss	ORPHA:160148
Caroli Disease	Weight loss, Polycystic kidney dysplasia, Conjugated hyperbilirubinemia	ORPHA:53035
Thymoma	Weight loss, Glomerulonephritis	ORPHA:99867
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Post...	OMIM:619127
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Elevated circulating hepatic transaminase concentration, Short uvula, Failur...	OMIM:619475
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Respiratory distress, ...	OMIM:260400
Classic Hodgkin Lymphoma	Weight loss	ORPHA:391
Osteosarcoma	Weight loss	ORPHA:668
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Weight loss, Hypercalcemia, Increased circulating cortisol level	ORPHA:913
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Furrowed tongue, Intrauterine growth retardation, Vesicoureteral reflux, Crypto...	OMIM:616975
Takayasu Arteritis	Weight loss	ORPHA:3287
Chronic Beryllium Disease	Weight loss	ORPHA:133
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Cortical nephrocalcinosis, Respiratory distress, Ascites, Transient ischemic at...	ORPHA:51608
Cryptococcosis	Respiratory distress, Pleural effusion, Peritonitis, Cirrhosis, Dyspnea, Cerebral edema	ORPHA:1546
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries	OMIM:151660
Lissencephaly 7 With Cerebellar Hypoplasia	Increased circulating lactate concentration	OMIM:616342
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Kasabach-Merritt Phenomenon	Hypopnea, Respiratory distress, Petechiae, Prolonged prothrombin time, Hepatic hemangioma, Purpura	ORPHA:2330
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hypertension, Abnormality of the pancreas	ORPHA:1555
Peripheral Primitive Neuroectodermal Tumor	Elevated carcinoma antigen 125 level, Weight loss, Elevated circulating alpha-fetoprotein concent...	ORPHA:370348
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Hereditary Late-Onset Parkinson Disease	Weight loss, Spastic/hyperactive bladder	ORPHA:411602
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat...	ORPHA:3342
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation	OMIM:612863
X-Linked Intellectual Disability, Cabezas Type	Short stature, Hypoplasia of penis, Cachexia, Obesity	ORPHA:85293
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Oculopharyngodistal Myopathy 1	Respiratory distress, Difficulty walking, Dysphagia, Ataxia	OMIM:164310
Trisomy 8P	Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Hydr...	ORPHA:264450
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Mgat2-Cdg	Abnormal bleeding, Respiratory distress, Arrhythmia, Hydrops fetalis, Reflex asystolic syncope	ORPHA:79329
Cockayne Syndrome	Severe short stature, Unilateral renal agenesis, Renal hypoplasia, Postnatal growth retardation, ...	ORPHA:191
Esophageal Atresia	Abnormality of the urinary system, Renal agenesis, Respiratory distress, Oral aversion, Episodic ...	ORPHA:1199
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Rhizomelia, Failure to thrive, Macroglos...	OMIM:266920
Pfeiffer Syndrome Type 3	Respiratory distress, Hydronephrosis, Vesicoureteral reflux, Horseshoe kidney	ORPHA:93260
Kaposi Sarcoma	Weight loss	ORPHA:33276
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Hypospadias, Cardiomyopathy	OMIM:217980
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Weight loss, Lupus nephritis, Pyuria	ORPHA:536
Ogden Syndrome	Narrow palate, Growth delay, Eczematoid dermatitis, Recurrent otitis media, Decreased testicular ...	OMIM:300855
Hermansky-Pudlak Syndrome	Weight loss, Renal insufficiency	ORPHA:79430
Osteogenesis Imperfecta, Type X	Respiratory distress, Death in childhood, Nephrolithiasis	OMIM:613848
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Anteriorly placed anus, Cryptorchidism, Short stature, High palate, Small for g...	OMIM:268400
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
Sudden Cardiac Failure, Infantile	Metabolic acidosis	OMIM:617222
Infantile Krabbe Disease	Respiratory distress, Abnormal heart rate variability	ORPHA:206436
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Polysplenia, Abdominal situs inversus, Respiratory distress, Horseshoe kidney, Mi...	OMIM:306955
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss	ORPHA:67
Zttk Syndrome	Unilateral renal agenesis, Failure to thrive, Horseshoe kidney, Intrauterine growth retardation, ...	OMIM:617140
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Inability to walk, Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst	OMIM:620371
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Hydroureter, Annular pancre...	OMIM:265380
Bullous Pemphigoid	Weight loss	ORPHA:703
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Hypercholesterolemia, Polyuria, Hypertriglyceridemia, Small for gestational age	OMIM:606721
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased circulating lactate concentration, Weight loss, Mildly elevated creatine kinase	OMIM:607459
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Waddling gait	OMIM:183900
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Respiratory distress, Decreased glomerular filtration rate, R...	OMIM:614748
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Schinzel-Giedion Syndrome	Recurrent pneumonia, Annular pancreas, Anteriorly placed anus, Failure to thrive in infancy, Abno...	ORPHA:798
Overhydrated Hereditary Stomatocytosis	Pulmonary embolism, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:185000
Gm1 Gangliosidosis	Short stature, Weight loss, Failure to thrive	ORPHA:354
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Growth delay, Recurrent urinary tract infections,...	ORPHA:84
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Autosomal Dominant Progressive External Ophthalmoplegia	Increased circulating lactate concentration, Elevated circulating creatine kinase concentration, ...	ORPHA:254892
Malignant Atrophic Papulosis	Weight loss, Abnormality of the lower urinary tract	ORPHA:679
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating lactate concentration, Dilatation of the renal pelvis, Fai...	OMIM:619534
Orofaciodigital Syndrome I	Hepatic fibrosis, Tongue nodules, Hamartoma of tongue, Ankyloglossia, Hepatic cysts, Ovarian cyst...	OMIM:311200
Von Hippel-Lindau Syndrome	Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Pancreatic cyst...	OMIM:193300
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Hepatosple...	ORPHA:64
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Pelvic ki...	ORPHA:466943
Juvenile Dermatomyositis	Elevated circulating C-reactive protein concentration, Weight loss, Calcinosis, Elevated circulat...	ORPHA:93672
Adult Acute Respiratory Distress Syndrome	Metabolic acidosis, Diabetic ketoacidosis	ORPHA:70578
Zygomycosis	Colon perforation, Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis,...	ORPHA:73263
Congenital Tracheal Stenosis	Fetal ascites, Respiratory distress, Abnormality of the ureter, Oligohydramnios, Polyhydramnios, ...	ORPHA:141127
Ramos-Arroyo Syndrome	Respiratory distress, Self-mutilation	ORPHA:1051
Achondroplasia	Respiratory distress, Polyhydramnios	OMIM:100800
Primary Sclerosing Cholangitis	Hypoalbuminemia, Weight loss, Renal insufficiency	ORPHA:171
Short Syndrome	Severe short stature, Weight loss	ORPHA:3163
Rodrigues Blindness	Nasal flaring	OMIM:268320
Familial Colorectal Cancer Type X	Weight loss, Abnormal circulating creatine concentration	ORPHA:440437
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Hydronephrosis, Renal dysplasia	OMIM:300968
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Diamond-Blackfan Anemia 10	Respiratory distress, Ectopic kidney, Renal duplication	OMIM:613309
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Oligohydramnios, Bruising susceptibility, Renal neoplasm	ORPHA:536467
Wiedemann-Rautenstrauch Syndrome	Growth delay, Failure to thrive, Increased circulating prolactin concentration, Recurrent urinary...	ORPHA:3455
Feingold Syndrome Type 1	Nephritis, Duodenal atresia, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Jejuna...	ORPHA:391641
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pancreatic hypoplasia, Respiratory distress, Exocrine pancreatic insufficiency, Oligohydramnios, ...	ORPHA:2255
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,...	OMIM:618278
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Tongue nod...	ORPHA:2750
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hypospadias, Hypertension	OMIM:123790
Trisomy 18	Intrauterine growth retardation, Hydronephrosis, Abnormality of the upper urinary tract, Cachexia...	ORPHA:3380
Whipple Disease	Hyponatremia, Cachexia	ORPHA:3452
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Cirrhosis, Facial telangiectasia, Cerebral hemorrhage, Fingerpad tel...	OMIM:600376
Schwartz-Jampel Syndrome	Abnormality of the urinary system, Abnormality of the ureter, Decreased body weight, Elevated cir...	ORPHA:800
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Increased circulating lactate concentration, Intrauterine growth retardation	OMIM:620275
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Atypical Werner Syndrome	Glycosuria, Failure to thrive, Hepatic steatosis, Decreased body weight, Delayed puberty, Abnorma...	ORPHA:79474
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased circulating lactate concentration	OMIM:612949
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Unilateral renal agenesis, Atopic dermatitis, Failure to thrive, Recurrent...	OMIM:619503
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Perry Syndrome	Weight loss	OMIM:168605
Nocardiosis	Respiratory distress, Peritonitis, Anorexia, Dyspnea, Liver abscess	ORPHA:31204
Acrodermatitis Enteropathica	Short stature, Weight loss, Failure to thrive	ORPHA:37
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Pulmonary venous hypertension, Splenomegaly, Intermittent jaundice, Portal vein t...	ORPHA:3202
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Increased circulating lactate concentration	ORPHA:438114
Bronchial Neuroendocrine Tumor	Weight loss, Increased circulating cortisol level	ORPHA:97287
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Pancreatic And Cerebellar Agenesis	Severe intrauterine growth retardation, Pancreatic hypoplasia, Failure to thrive, Pancreatic aplasia	OMIM:609069
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Loeffler Endocarditis	Weight loss	ORPHA:75566
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Galactosuria, Organic aciduria, Cryptorchidism, Short stature, Cleft palate	ORPHA:85276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Increased circulating lactate concentration	OMIM:609286
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Scimitar Syndrome	Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Left-to-right sh...	ORPHA:185
Rett Syndrome	Short stature, Cachexia	OMIM:312750
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Combined Oxidative Phosphorylation Defect Type 39	Increased circulating lactate concentration, Intrauterine growth retardation	ORPHA:565624
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Nephrolithiasis, Conjunctivitis, Duodenal ulcer	OMIM:217090
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Cachexia	ORPHA:3217
Brucellosis	Failure to thrive, Intrarenal abscess, Weight loss, Glomerulonephritis, Elevated circulating C-re...	ORPHA:1304
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Kanzaki Disease	Aminoaciduria, Lymphedema, Increased urinary O-linked sialopeptides, Petechiae, Lacunar stroke, T...	OMIM:609242
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Respiratory distress, Gait imbalance, Hydronephrosis, Dysphag...	OMIM:616268
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Elevated circulating hepati...	ORPHA:95455
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Pneumocystosis	Weight loss	ORPHA:723
Somatostatinoma	Steatorrhea, Weight loss, Hypercalcemia, Increased circulating cortisol level	ORPHA:97283
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Horseshoe kidney, Polyhydramnios, Splenomegaly, Hepatomegaly	OMIM:617088
Combined Oxidative Phosphorylation Deficiency 39	Increased circulating lactate concentration, Intrauterine growth retardation	OMIM:618397
Ppoma	Weight loss, Hypercalcemia, Increased circulating cortisol level	ORPHA:97278
Wars2-Related Combined Oxidative Phosphorylation Defect	Increased circulating lactate concentration, Intrauterine growth retardation, Lactic acidosis	ORPHA:572798
Spastic Tetraplegia And Axial Hypotonia, Progressive	Increased circulating lactate concentration	OMIM:618598
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis	ORPHA:449427
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Multiple renal cysts, Adrena...	ORPHA:892
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopa...	ORPHA:2556
Rubinstein-Taybi Syndrome 1	Accessory spleen, Respiratory distress, Self-mutilation, Hydronephrosis, Hyperactivity, Hepatic h...	OMIM:180849
Pancreatic Triacylglycerol Lipase Deficiency	Steatorrhea, Weight loss, Growth delay	ORPHA:309031
Meier-Gorlin Syndrome 1	Respiratory distress, Micropenis, Death in infancy	OMIM:224690
Reactive Arthritis	Weight loss, Recurrent urinary tract infections	ORPHA:29207
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Increased circulating lactate concentration, Lactic acidosis	OMIM:617186
Pemphigus Vulgaris	Weight loss	ORPHA:704
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Primary Myelofibrosis	Cachexia	ORPHA:824
Behçet Disease	Glomerulopathy, Weight loss, Renal insufficiency	ORPHA:117
Nijmegen Breakage Syndrome	Short stature, Cachexia, Pollakisuria	ORPHA:647
8Q24.3 Microdeletion Syndrome	Unilateral renal agenesis, Bilateral renal hypoplasia, Respiratory distress, Exocrine pancreatic ...	ORPHA:508488
Plague	Hypotension, Abnormal bleeding, Respiratory distress, Splenomegaly, Arrhythmia, Hematemesis, Hepa...	ORPHA:707
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Multiple Mitochondrial Dysfunctions Syndrome 7	Metabolic acidosis, Hyperglycinemia, Hypernatremia	OMIM:620423
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Hypoplasia of penis, Hypospadias, Epispadias	ORPHA:2554
Glucagonoma	Steatorrhea, Weight loss, Hypercalcemia, Increased circulating cortisol level	ORPHA:97280
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Respiratory distress, Hydronephrosis, Biliary hyperplasia,...	ORPHA:83617
Grfoma	Weight loss, Hypercalcemia, Increased circulating cortisol level	ORPHA:97261
Klatskin Tumor	Weight loss	ORPHA:99978
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Congenital Tracheomalacia	Dyspnea, Pulmonary arterial hypertension, Apnea, Intercostal retractions	ORPHA:95430
Alkaptonuria	Aortic valve stenosis, Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigme...	ORPHA:56
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Short stature	ORPHA:79076
Seckel Syndrome	Short stature, Intrauterine growth retardation, Cachexia	ORPHA:808
Chronic Graft Versus Host Disease	Hematuria, Urinary bladder inflammation, Weight loss, Phimosis	ORPHA:99921
Combined Oxidative Phosphorylation Deficiency 15	Short stature, Obesity, Increased circulating lactate concentration	OMIM:614947
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:301074
Campomelic Dysplasia	Respiratory distress, Apnea, Hydronephrosis, Polyhydramnios, Hypospadias	OMIM:114290
Immunodeficiency 31C	Short stature, Weight loss, Delayed puberty, Growth delay	OMIM:614162
Camurati-Engelmann Disease	Slender build, Cachexia, Delayed puberty, Urinary retention	ORPHA:1328
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased circulating lactate concentration, Increased serum pyruvate	OMIM:618222
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Mucolipidosis Type Ii	Short stature, Postnatal growth retardation, Weight loss	ORPHA:576
Osteoglophonic Dysplasia	Respiratory distress, Chordee, Hypospadias	OMIM:166250
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Paroxysmal dyspnea, Respiratory distress, Tricuspid regurgitation, Mit...	ORPHA:99125
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Poems Syndrome	Weight loss	ORPHA:2905
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Mild postnatal growth retardation	ORPHA:85408
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Respiratory distress, ...	ORPHA:79318
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Increased body weight, We...	ORPHA:99889
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss, Delayed puberty	ORPHA:91347
Lynch Syndrome	Renal neoplasm, Weight loss	ORPHA:144
African Trypanosomiasis	Urinary incontinence, Weight loss, Renal insufficiency, Abnormality of circulating cortisol level	ORPHA:3385
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased circulating lactate concentration	ORPHA:70595
Combined Oxidative Phosphorylation Deficiency 29	Increased circulating lactate concentration	OMIM:616811
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Stüve-Wiedemann Syndrome	Respiratory distress, Oligohydramnios, Apnea	ORPHA:3206
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Increased circulating lactate concentration	OMIM:618321
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Weight loss, Hypernatremia, Hypoalbuminemia	OMIM:619381
Combined Oxidative Phosphorylation Defect Type 29	Increased circulating lactate concentration	ORPHA:478029
Bannayan-Riley-Ruvalcaba Syndrome	Short stature, Cachexia	ORPHA:109
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress	OMIM:305100
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Cachexia	ORPHA:1969
Pancreatoblastoma	Weight loss	ORPHA:677
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Proximal Spinal Muscular Atrophy	Metabolic acidosis	ORPHA:70
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased circulating lactate concentration	OMIM:157640
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Familial Thrombocytosis	Weight loss	ORPHA:71493
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:50918
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Difficulty walking, Hydronephrosis, Cyst of the ductus choledochus, Renal d...	ORPHA:480880
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Respiratory distress, Oligohydramnios, Polycystic ki...	ORPHA:3404
Dermatomyositis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:221
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Homozygous Familial Hypercholesterolemia	Renal steatosis, Renal artery stenosis, Hepatic steatosis	ORPHA:391665
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive	ORPHA:2020
Rat-Bite Fever	Weight loss	ORPHA:31205
Choreoacanthocytosis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:2388
Malt Lymphoma	Weight loss	ORPHA:52417
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Unilateral renal agenesis, D-2-hydroxyglutaric aciduria, Waddling gait	ORPHA:99646
Cerebrotendinous Xanthomatosis	Increased circulating lactate concentration	ORPHA:909
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Bruising susceptibility, Arterial rupture, Cystocele, Hemothorax, Ec...	OMIM:130050
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss, Delayed menarche	ORPHA:740
Proteus Syndrome	Renal cyst, Cachexia, Long penis, Enlarged kidney	ORPHA:744
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Delayed puberty, Growth delay	ORPHA:2072
Multiple Osteochondromas	Hemothorax, Urinary retention	ORPHA:321
Stickler Syndrome	Short stature, Slender build, Cachexia	ORPHA:828
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Norrie Disease	Cachexia, Delayed puberty, Failure to thrive	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mmut

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mmut.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.	Molecular genetics and metabolism (June 2018)	Mmut^{tm1a(EUCOMM)Wtsi}	29934063

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Mmut^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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