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Gene: Car2 MGI:88269

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

carbonic anhydrase 2

Synonyms:

Car-2, CA II, CAII, Ltw-5, Lvtw-5

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 Car2 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 Car2 (2 diseases)
Human diseases predicted to be associated with Car2 (910 diseases)

The table below shows human diseases associated to Car2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteopetrosis With Renal Tubular Acidosis		Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido...	ORPHA:2785
Osteopetrosis, Autosomal Recessive 3		Distal renal tubular acidosis	OMIM:259730

The table below shows human diseases predicted to be associated to Car2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn...	OMIM:620152
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre...	OMIM:241150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria	OMIM:239199
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos...	OMIM:266150
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Hy...	OMIM:611590
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Nephrolithiasis	OMIM:267300
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea...	ORPHA:324525
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Liddle Syndrome 1	Hypokalemic alkalosis, Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Complement Factor H Deficiency	Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Recurrent bacterial in...	OMIM:609814
Gracile Syndrome	Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h...	ORPHA:53693
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine	ORPHA:391457
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis	OMIM:216950
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Increased serum lactate, Metabolic acidosis	OMIM:615158
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Say Syndrome	Short stature, Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular...	OMIM:613404
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren...	OMIM:613953
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Decreased circulating renin level	OMIM:613677
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis	OMIM:236795
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ...	OMIM:603358
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Hawkinsinuria	Metabolic acidosis, Abnormal circulating tyrosine concentration, 4-hydroxyphenylacetic aciduria, ...	ORPHA:2118
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub...	ORPHA:431361
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Hydroxykynureninuria	Metabolic acidosis, Renal tubular acidosis, Stomatitis, Abnormal circulating tryptophan concentra...	ORPHA:79155
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperpro...	OMIM:619003
East Syndrome	Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Increase...	ORPHA:199343
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Juvenile Nephropathic Cystinosis	Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney...	ORPHA:411634
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos...	OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi...	OMIM:613090
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Chronic acidosis, Hypercalciuria, Genera...	OMIM:227810
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Metabo...	OMIM:611555
Glycine Encephalopathy	Hyperglycinemia, Respiratory acidosis, Breathing dysregulation	ORPHA:407
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate...	ORPHA:2088
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Riboflavin Deficiency	Metabolic acidosis, Lactic acidosis, Dicarboxylic aciduria, Elevated circulating acylcarnitine co...	OMIM:615026
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Bic...	ORPHA:47159
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro...	ORPHA:320
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Recurrent respiratory infections, Renal salt wasting, Hyperkalemia, Metabolic acidosis	OMIM:264350
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Hypoargininemia, Increa...	OMIM:615751
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ...	OMIM:255120
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Lactase Deficiency, Congenital	Metabolic acidosis, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increas...	OMIM:619386
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co...	OMIM:615824
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Oliguria, A...	ORPHA:31824
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum lactate, Increased serum pyruvate	OMIM:619062
Liddle Syndrome 2	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level	OMIM:618126
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Tubul...	OMIM:614582
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic acidosis, Hyp...	OMIM:145600
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Am...	OMIM:208085
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting, Hypoalbuminemia,...	OMIM:615863
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent...	OMIM:612780
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis, Transient hyperlipidemia	ORPHA:156
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial I...	OMIM:613496
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,...	OMIM:615605
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in...	OMIM:615237
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc...	OMIM:602522
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate	OMIM:618245
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena...	OMIM:614922
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Respirator...	OMIM:614748
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Postnata...	ORPHA:79240
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,...	OMIM:619079
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab...	OMIM:251120
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate	OMIM:249500
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph...	ORPHA:2494
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Recurrent upper respiratory tract infections, Hyperammonemia, Metabolic ...	OMIM:620137
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption	OMIM:613291
Cholera	Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Lactic ...	ORPHA:173
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Diarrhea...	ORPHA:264580
Galactosemia I	Metabolic acidosis, Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactos...	OMIM:230400
Apparent Mineralocorticoid Excess	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level	OMIM:218030
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta...	OMIM:222748
Blue Diaper Syndrome	Hypercalcemia, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphosphatemia	ORPHA:94086
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate, Hyperglycinemia, Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Generalized aminoaciduria, Renal tubular dysfunction, Abnormal intestine morphology, Vo...	OMIM:606528
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor...	OMIM:214700
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:616209
Mitochondrial Pyruvate Carrier Deficiency	Lactic acidosis, Organic aciduria, Increased serum pyruvate, Increased serum lactate	OMIM:614741
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos...	ORPHA:213
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Short Chain Acyl-Coa Dehydrogenase Deficiency	Metabolic acidosis, Ethylmalonic aciduria, Elevated circulating acylcarnitine concentration, Incr...	ORPHA:26792
Primary Unilateral Adrenal Hyperplasia	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level, Increased urinary potassium	ORPHA:231580
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype...	OMIM:614492
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ...	ORPHA:263665
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Secretory diarrhea, Bronchiectasis, Metabolic acidosis, ...	OMIM:619445
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser...	OMIM:619743
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Elevated circulating creatine kinase concentration	ORPHA:408
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate, Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
2P21 Microdeletion Syndrome	Lactic acidosis, Hypocalcemia, Nephrolithiasis, Cystinuria	ORPHA:163693
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Villous atrophy, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Familial Hyperaldosteronism Type Iii	Metabolic alkalosis, Hypokalemia, Hypercalciuria	ORPHA:251274
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Vici Syndrome	Renal tubular acidosis, Recurrent respiratory infections, Ureteral atresia, Recurrent infections	ORPHA:1493
Lipoyltransferase 1 Deficiency	Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a...	OMIM:616299
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Elevated c...	OMIM:615160
Ectopic Aldosterone-Producing Tumor	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level, Renal cortical adenoma	ORPHA:231632
Kearns-Sayre Syndrome	Lactic acidosis, Renal tubular acidosis, Renal Fanconi syndrome	OMIM:530000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Increased urine succinate level, Increased serum lactate, Metabolic acidosis, De...	OMIM:619048
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis	OMIM:614496
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Increased serum lactate, Hyperammonemia, Recurrent infections, Lactic acidosis, Rena...	OMIM:615471
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Bartter Syndrome Type 4	Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I...	ORPHA:89938
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum lactate, Increased serum pyruvate	OMIM:614055
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Metabolic alkalosis, Hypokalemia, Decreased circulating renin level, Increased urinary potassium	ORPHA:231625
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Metabolic ketoacidosis, Abnormal circulating fatty-acid concentration, Renal Fanconi...	ORPHA:263455
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ketoacidosis, Hyperammonemia, Lactic acidosis...	OMIM:618120
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis, Hyperkalemia	OMIM:145260
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Lactic acidosis, Metabolic acidosis	ORPHA:91130
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis	OMIM:616111
Listeriosis	Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Meningiti...	ORPHA:533
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos...	OMIM:220110
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium	OMIM:611489
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ...	ORPHA:436271
Chylomicron Retention Disease	Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol co...	OMIM:246700
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Leigh Syndrome	Eczema, Increased serum lactate, Ketoacidosis, Severe viral infection, Lacticaciduria, Methylmalo...	ORPHA:506
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Absence of intrinsic factor	OMIM:243320
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Eczema, Increased urinary s...	OMIM:272300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Recurrent infections, Fetal megacystis, Renal co...	OMIM:619351
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Metabolic acidosis	OMIM:610090
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena...	ORPHA:97362
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Hy...	OMIM:601678
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Organic aciduria	OMIM:617184
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Neonatal sepsis, Increased serum lactate, Hyperammonemia, Recurrent infections, Lactic acidosis, ...	OMIM:614739
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis	OMIM:301021
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Hypokalemia, Nephrolithiasis, Decreased circulating renin level	OMIM:615474
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis	OMIM:204730
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid...	OMIM:140350
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Mitochondrial Myopathy With Lactic Acidosis	Increased serum lactate, Lactic acidosis, Elevated serum anion gap, Increased serum pyruvate	OMIM:251950
Gitelman Syndrome	Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, I...	OMIM:263800
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Lacticaciduria	OMIM:618247
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Dihydrolipoamide Dehydrogenase Deficiency	Lactic acidosis, Metabolic acidosis, Increased serum pyruvate, Ketoacidosis	OMIM:246900
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac...	ORPHA:103907
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis	OMIM:203740
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Metabolic acido...	OMIM:616026
Familial Hyperaldosteronism Type Ii	Metabolic alkalosis, Hypokalemia	ORPHA:404
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting, Hypochloremic metabolic alkalosis	OMIM:179010
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fe...	OMIM:276700
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Pustule, Recurrent tonsillitis, Hyperkalemia, Atopic dermatitis, Met...	ORPHA:171876
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral...	OMIM:608957
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,...	ORPHA:319552
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis	OMIM:614495
Alpha-Heavy Chain Disease	Growth delay, Abnormal small intestine morphology, Hypocalcemia, Malabsorption	ORPHA:100025
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria	OMIM:617671
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormal urinary color, Conjugated hyperbilirubinemia	ORPHA:234
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Meta...	OMIM:312170
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Metabolic alkalosis, Hypokalemia, Nephrolithiasis	ORPHA:369929
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Hypokalemic Tubulopathy And Deafness	Acidosis, Increased circulating renin level, Renal salt wasting	OMIM:619406
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidosis	OMIM:612075
Developmental And Epileptic Encephalopathy 50	Diarrhea, Hyperammonemia, Renal tubular acidosis, Dysphagia, Oroticaciduria	OMIM:616457
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Metabolic alkalosis, Hypomagnesem...	ORPHA:358
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Opportunistic infection, Ch...	ORPHA:83471
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Succinic Acidemia	Lactic acidosis	OMIM:600335
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,...	OMIM:246450
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, ...	OMIM:613490
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic...	ORPHA:289504
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Combined Oxidative Phosphorylation Deficiency 8	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:614096
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Malabsorption, Chronic diarrhea, Hypercalciuria, Lactic acidosis, Metabolic acid...	OMIM:557000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto...	OMIM:615453
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Mitochondrial Myopathy, Infantile, Transient	Lactic acidosis, Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine...	OMIM:500009
Feingold Syndrome 2	Postnatal growth retardation, Short stature, Intestinal atresia	OMIM:614326
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic...	OMIM:615710
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Hyperalaninemia, Metabolic acidosis, Increased serum pyruvate	OMIM:245349
Combined Oxidative Phosphorylation Deficiency 28	Increased serum lactate, Increased serum pyruvate, Severe lactic acidosis	OMIM:616794
Small Bowel Atresia	Intestinal hypoplasia, Short stature, Intestinal malrotation, Jejunal atresia, Vomiting, Intraute...	ORPHA:1201
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis	OMIM:618243
Glucose/Galactose Malabsorption	Metabolic acidosis, Glycosuria	OMIM:606824
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Crypt hyperplasia	OMIM:613217
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypospadias, Intestinal malrotation, Jejunal atresia, Tracheoesophageal fi...	OMIM:601346
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia, Beta-amino...	OMIM:615330
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Nephrolithiasis, Alkalosis	OMIM:219090
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Hyperalaninemia	OMIM:616974
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio...	OMIM:614868
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis	OMIM:266130
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis	OMIM:609060
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Re...	OMIM:241200
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Metabolic acidosis	OMIM:618237
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Malonyl-Coa Decarboxylase Deficiency	Lactic acidosis, Elevated urine suberic acid level, Metabolic acidosis, Methylmalonic aciduria	OMIM:248360
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a...	OMIM:617913
Pyridoxal Phosphate-Responsive Seizures	Increased serum lactate, Abnormal circulating tyrosine concentration, Abnormal circulating threon...	ORPHA:79096
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased serum lactate, Conjugated hyperbilirubinemia, Hyperkalemia, Metabolic acidosis, Hypoalb...	OMIM:618528
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Mitochondrial Complex I Deficiency, Nuclear Type 11	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:618234
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop...	OMIM:300555
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
D-Glyceric Aciduria	Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinuria, Metabol...	ORPHA:941
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, 3-Methylglutaconic aciduria	ORPHA:67048
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum lactate, Metabolic acidosis, Increased serum pyruvate	OMIM:618225
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Metabolic ac...	OMIM:619046
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Diarrhea 9	Villous atrophy, Diarrhea	OMIM:618168
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:203400
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:610600
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lactic acidosis, Increased serum lactate, Metabolic acidosis, Severe lactic acidosis	OMIM:618228
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis, Myoglobinuria	OMIM:602199
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Increased serum lactate, Methylma...	OMIM:614105
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Hsd10 Mitochondrial Disease	Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis	OMIM:300438
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Holocarboxylase Synthetase Deficiency	Skin rash, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinar...	OMIM:253270
Mercury Poisoning	Interstitial pneumonitis, Hypokalemia, Acute kidney injury	ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 5	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal renal tubu...	OMIM:611719
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased serum lactate, Sepsis, Lactic acidosis, Hyperglycinemia, Hyperalaninemia	OMIM:619059
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Hypotonia-Cystinuria Syndrome	Increased serum lactate, Nephrolithiasis, Cystinuria, Lactic acidosis, Hypocalcemia, Cystine crys...	OMIM:606407
Isovaleric Acidemia	Ketoacidosis, Metabolic acidosis, Hyperglycinuria	OMIM:243500
Alg1-Cdg	Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni...	ORPHA:79327
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Increased serum lactate, Ketonuria, Metabolic acidosis, Renal hypoplasia	OMIM:619053
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Methylmalonic aci...	OMIM:251000
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126840
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Ketoacidosis, Hyperglycinuria, Hyperammon...	OMIM:210210
Duodenal Ulcer, Hyperpepsinogenemic I	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126850
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro...	ORPHA:2070
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Lacticaciduria, Hyper...	OMIM:605711
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M...	ORPHA:90349
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ...	ORPHA:911
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia	OMIM:610678
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Increased serum lactate, Abnormal circulating pyruvate family amino acid concent...	ORPHA:255182
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Glutaric Acidemia Type 3	Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir...	ORPHA:35706
Pearson Syndrome	Elevated lactate:pyruvate ratio, Renal insufficiency, Proteinuria, Increased serum lactate, Hypom...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 10	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyperalaninemia	OMIM:614702
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di...	ORPHA:103910
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Microvillus Inclusion Disease	Villous atrophy, Diarrhea, Nephrocalcinosis, Metabolic acidosis, Abnormal small intestinal villus...	ORPHA:2290
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus...	OMIM:613493
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Increased serum pyruvate	OMIM:617668
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido...	ORPHA:2785
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis	OMIM:619012
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate	OMIM:614458
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma free carnitine, Hyp...	OMIM:616034
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Increased serum lactate, Bronchiectasis, Hyperammonemia, Lactic acidosis, Metabolic ...	OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis, Pancreatitis	OMIM:618230
Combined Oxidative Phosphorylation Deficiency 34	Increased serum lactate, Lactic acidosis, Elevated circulating creatinine concentration, Increase...	OMIM:617872
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:617069
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ...	ORPHA:91500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyperalaninemia	OMIM:619051
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti...	ORPHA:572
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, Chronic kidney ...	OMIM:613845
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Metabolic acidosis, Renal tubular acidosis, Recurrent otitis media, Recurrent respiratory infections	OMIM:619575
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Neo...	OMIM:256300
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Hyperalaninemia, Increased serum lactate	OMIM:618378
Heme Oxygenase 1 Deficiency	Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti...	OMIM:614034
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Hyperlipidemia, Postprandial hyperlactemia, Intermittent ...	ORPHA:369
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction	ORPHA:1380
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Propionic Acidemia	Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Hyperammonemia, Lactic acidos...	OMIM:606054
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Combined Oxidative Phosphorylation Deficiency 23	Lactic acidosis, Increased serum lactate	OMIM:616198
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica...	OMIM:618250
Combined Oxidative Phosphorylation Deficiency 31	Lactic acidosis, Hyperalaninemia, Increased serum lactate	OMIM:617228
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ...	ORPHA:183675
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E...	OMIM:243150
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis	OMIM:618246
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis	OMIM:618236
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Chromosome 14Q11-Q22 Deletion Syndrome	Proportionate short stature, Growth delay, Renal tubular acidosis, Macroglossia, High palate, Gas...	OMIM:613457
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respirato...	OMIM:232240
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol...	OMIM:210200
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circulating C-react...	OMIM:619573
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased serum lactate, Hematuria, Lactic acidosis, Metabolic acidosis, Hypoalbuminemia	OMIM:617021
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ...	OMIM:608184
Sengers Syndrome	Lactic acidosis, Exercise-induced lactic acidemia, 3-Methylglutaconic aciduria, Increased serum l...	OMIM:212350
Pancreatic Colipase Deficiency	Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency	ORPHA:309108
Duodenal Atresia	Duodenal atresia	OMIM:223400
Adrenocortical Carcinoma	Increased urinary cortisol level, Hypokalemia, Abnormality of urine homeostasis	ORPHA:1501
Hsd10 Disease, Infantile Type	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal concentrat...	ORPHA:391428
Glycogen Storage Disease Ixa1	Lactic acidosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Combined Oxidative Phosphorylation Deficiency 18	Increased serum lactate, Lactic acidosis, Methylmalonic aciduria	OMIM:615578
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia	ORPHA:57
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si...	OMIM:240500
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate, Elevated creatine kinase after exercise	ORPHA:45
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydroureter, Hydronephrosis	OMIM:618240
Lactic Acidosis, Chronic Adult Form	Hyperuricemia, Chronic lactic acidosis	OMIM:150170
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Metabolic alkalosis, Hypokalemia, Acne	ORPHA:786
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux	OMIM:617219
Osteootohepatoenteric Syndrome	Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration	OMIM:619377
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis	OMIM:181270
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Increased serum lactate, Lacticaciduria, L...	OMIM:613070
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis, Acidosis	OMIM:618235
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Esophageal spasms, Decreased serum iron, Pulmo...	ORPHA:447
Encephalopathy, Ethylmalonic	Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Ethylmalonic aciduria	OMIM:602473
Type 1 Diabetes Mellitus	Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media	OMIM:300455
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Acne, Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level...	ORPHA:90795
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Lacticaciduria, Methylmalonic aciduria, Lactic acidosis, Hypergl...	OMIM:245400
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic ac...	OMIM:251100
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Metabolic acidosis, Hyperphosphatemia, Myo...	ORPHA:423
Vascular Hyalinosis	Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption	OMIM:277175
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Diarrhea, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Vomiting...	OMIM:602579
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Glycogen Storage Disease Ib	Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Lactic acidosis, Focal segmental glomeruloscl...	OMIM:232220
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis	OMIM:608106
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Hypercholanemia, Familial 1	Fat malabsorption, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Developmental And Epileptic Encephalopathy 82	Increased serum lactate, Hyperammonemia, Recurrent infections	OMIM:618721
Necrotizing Enterocolitis	Hyponatremia, Neonatal sepsis, Increased serum lactate, Peritonitis, Metabolic acidosis, Acidosis	ORPHA:391673
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis	ORPHA:1369
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Scorpion Envenomation	Respiratory alkalosis, Abnormality of acid-base homeostasis, Ketonuria, Increased circulating NT-...	ORPHA:466677
Rabson-Mendenhall Syndrome	Long penis, Recurrent infections, Nephrocalcinosis, Diabetic ketoacidosis, Hypokalemia, Increased...	ORPHA:769
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia	OMIM:615917
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis	OMIM:610370
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Increased serum lactate, Abnormal medullary pyramid morphology, Recurre...	ORPHA:79243
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Lactic acidosis, Micropenis, Hypospadias	OMIM:618815
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis	OMIM:613502
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis	OMIM:615440
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Gastric ulcer, Esophageal ulceration, Decreased se...	OMIM:618372
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro...	OMIM:612692
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho...	OMIM:300048
Adult Acute Respiratory Distress Syndrome	Pneumonia, Sepsis, Metabolic acidosis, Diabetic ketoacidosis, Pancreatitis	ORPHA:70578
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu...	OMIM:619355
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Recurrent upper respiratory tract infections, Metab...	OMIM:618183
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:618226
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis, Ketonuria	OMIM:616095
Combined Oxidative Phosphorylation Deficiency 36	Increased serum lactate, Hyperalaninemia, Aciduria	OMIM:617950
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Fanconi Anemia, Complementation Group W	Growth delay, Intrauterine growth retardation, Renal hypoplasia, Duodenal atresia	OMIM:617784
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Hyperalaninemia, Increased serum lactate	OMIM:614654
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Bronchiolitis	ORPHA:90348
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Lactic acidosis, Increased serum lactate, Metabolic acidosis	ORPHA:70472
Sudden Cardiac Failure, Infantile	Metabolic acidosis, Myocarditis	OMIM:617222
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Metabolic acidosis, Hy...	OMIM:251110
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi...	OMIM:620358
Combined Oxidative Phosphorylation Deficiency 47	Increased serum lactate, Metabolic acidosis	OMIM:618958
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating acyl...	ORPHA:26791
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Marburg Hemorrhagic Fever	Renal insufficiency, Abnormality of acid-base homeostasis, Maculopapular exanthema, Elevated circ...	ORPHA:99826
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis	OMIM:618229
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Decreased nasal nitric oxide, Chronic sinusitis, Intestinal malrotation, Duodenal atresia	OMIM:619608
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis	OMIM:619065
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Increased serum pyruvate	OMIM:619224
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, R...	OMIM:607594
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5...	OMIM:118450
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Metabolic acidosis, Lactic acidosis	OMIM:616501
Triokinase And Fmn Cyclase Deficiency Syndrome	Lactic acidosis, Hypoalbuminemia, Pancreatitis	OMIM:618805
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy...	ORPHA:31826
Glutaric Acidemia I	Metabolic acidosis, Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration	OMIM:231670
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Neonatal hyperbilirubinemia, Lactic acidosis, Metabolic acidosis, Hyp...	ORPHA:348
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Postnatal growth retardation, Celiac disease, Short stature, Delayed puberty	OMIM:618985
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Immunodeficiency 44	Increased serum lactate, Post-vaccination measles, Severe viral infection	OMIM:616636
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis	OMIM:259730
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased serum lactate, Hyperalaninemia, Recurrent lower respiratory tract infections, Hyperprol...	OMIM:619170
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis	OMIM:610773
Combined Oxidative Phosphorylation Deficiency 19	Lactic acidosis, Metabolic acidosis, Lacticaciduria	OMIM:615595
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
3-Hydroxyisobutyric Aciduria	Lactic acidosis	ORPHA:939
Combined Oxidative Phosphorylation Deficiency 2	Lactic acidosis, Increased serum lactate	OMIM:610498
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Duodenal atresia	ORPHA:3004
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc...	OMIM:613179
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers...	OMIM:617595
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Plasminogen Deficiency, Type I	Recurrent upper respiratory tract infections, Decreased level of plasminogen, Nephrolithiasis, Co...	OMIM:217090
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Intestinal atresia	ORPHA:3405
Esophageal Atresia	Respiratory distress, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, V...	ORPHA:1199
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre...	ORPHA:48435
Mitochondrial Complex I Deficiency, Nuclear Type 32	Increased serum lactate, Hyponatremia, Metabolic acidosis, Patent urachus	OMIM:618252
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis	ORPHA:2598
Mitochondrial Complex I Deficiency, Nuclear Type 39	Lactic acidosis, Hypospadias	OMIM:620135
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Reynolds Syndrome	Abnormal gastric mucosa morphology, Xerostomia, Respiratory insufficiency, Gastroesophageal reflu...	ORPHA:779
Mitochondrial Dna Depletion Syndrome 17	Low plasma citrulline, Acidosis, Hyperammonemia	OMIM:618567
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Re...	ORPHA:36412
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Metabolic acidosis, Re...	OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis	OMIM:615119
Ethylmalonic Encephalopathy	Lactic acidosis, Ethylmalonic aciduria	ORPHA:51188
Beta-Ureidopropionase Deficiency	Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst...	OMIM:613161
Beta-Ketothiolase Deficiency	Ketonuria, Ketoacidosis, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Hyperuricem...	ORPHA:134
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Increased serum lacta...	OMIM:612073
Acute Peripheral Arterial Occlusion	Acidosis	ORPHA:90064
Refractory Celiac Disease	Villous atrophy, Malabsorption, Chronic diarrhea, Hypophosphatemia, Protein-losing enteropathy, H...	ORPHA:398063
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Lactic acidosis, Low plasma citrulline, Ketonuria, Renal steatosis	OMIM:261680
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, ...	ORPHA:469
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting...	ORPHA:95409
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr...	ORPHA:254864
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac...	OMIM:251900
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis,...	ORPHA:69076
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lactic acidosis, Increased serum lactate	OMIM:613561
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin...	ORPHA:79102
Combined Oxidative Phosphorylation Deficiency 21	Increased serum lactate, Hyperalaninemia, Hyperprolinemia	OMIM:615918
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Elevated ...	OMIM:616878
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Increased urinary glycerol	OMIM:229700
Isolated Atp Synthase Deficiency	Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalaninemia	ORPHA:254913
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Severe recurrent var...	ORPHA:276
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Renal hypoplasi...	OMIM:611376
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Hypokalemia, Micropenis, Increased urinary 11-deoxycorticosterone level, Decreased c...	ORPHA:90793
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Jejunal atresia, ...	ORPHA:391641
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi...	OMIM:147060
Pyruvate Carboxylase Deficiency	Elevated lactate:pyruvate ratio, Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, I...	ORPHA:3008
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Sepsis, Hyperammonemia, Renal tubular dysfunction, Pancreatitis	ORPHA:289916
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Met...	OMIM:619055
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch...	ORPHA:98813
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Lactic ...	OMIM:607426
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Aminoaciduria, Proteinuria	OMIM:603585
Congenital Tracheal Stenosis	Respiratory distress, Abnormality of the kidney, Abnormal stomach morphology, Neonatal asphyxia, ...	ORPHA:141127
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Increased serum lactate, Horseshoe kidney	OMIM:617664
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Inc...	ORPHA:247598
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis	OMIM:618238
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Cholestasis, Progressive Familial Intrahepatic, 1	Short stature, Epistaxis, Conjugated hyperbilirubinemia, Diarrhea, Wheezing, Fat malabsorption	OMIM:211600
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection...	ORPHA:486
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Submucous cleft har...	OMIM:619227
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary infections, Recurrent p...	OMIM:617303
D-Glyceric Aciduria	Metabolic acidosis, Aminoaciduria, Nonketotic hyperglycinemia, Micropenis	OMIM:220120
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Lactic acidosis, Focal segmental glomeruloscl...	OMIM:232200
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Abnormal stomach morphology	ORPHA:281090
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Increased serum lactate,...	ORPHA:99901
Cholestasis, Progressive Familial Intrahepatic, 2	Short stature, Conjugated hyperbilirubinemia, Diarrhea, Hepatocellular carcinoma, Fat malabsorption	OMIM:601847
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Methanol Poisoning	Metabolic acidosis, Hyperlipidemia	ORPHA:31825
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria,...	OMIM:259900
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Metabolic acidosis	ORPHA:88639
Sepsis In Premature Infants	Neonatal sepsis, Disseminated viral infection, Elevated circulating C-reactive protein concentrat...	ORPHA:90051
Myopathy With Lactic Acidosis, Hereditary	Lactic acidosis, Myoglobinuria, Increased serum lactate, Elevated circulating creatine kinase con...	OMIM:255125
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,...	ORPHA:90291
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Sepsis, Recurrent ba...	OMIM:617053
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Recurrent inf...	ORPHA:361
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu...	ORPHA:2688
Fanconi Anemia, Complementation Group B	Renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth ...	OMIM:300514
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis, Recurrent pneumonia	OMIM:214150
Combined Oxidative Phosphorylation Deficiency 14	Lactic acidosis, Aminoaciduria, Increased serum lactate, Elevated hepatic iron concentration	OMIM:614946
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact...	ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:618838
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C-reactive protein concent...	OMIM:618048
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased serum lactate, Urinary incontinence	OMIM:301025
Cap Polyposis	Atrophic gastritis, Diarrhea, Hematochezia, Colorectal polyposis, Constipation	ORPHA:160148
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis	OMIM:618241
Glycogen Storage Disease Ixc	Increased serum lactate, Lactic acidosis, Hypertriglyceridemia	OMIM:613027
Immunodeficiency 57 With Autoinflammation	Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intestine, Chron...	OMIM:618108
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ...	OMIM:203800
Combined Oxidative Phosphorylation Deficiency 33	Lactic acidosis, Nephrotic syndrome, Increased serum lactate, Elevated circulating creatine kinas...	OMIM:617713
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Mpi-Cdg	Gastrointestinal hemorrhage, Diarrhea, Hypoalbuminemia, Protein-losing enteropathy, Vomiting	ORPHA:79319
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema	OMIM:300299
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Elevated circulating hexacosanoic acid...	OMIM:614388
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic acid...	OMIM:604273
Duodenal Atresia	Duodenal atresia	ORPHA:1203
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Lactic acidosis	OMIM:540000
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Increased serum lactate, Elevated circulating acylcarnitine concentration, Lactic acidosis, Abnor...	OMIM:615838
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis	OMIM:617475
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactate	OMIM:252011
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Hypoka...	OMIM:174900
Pyridoxine-Dependent Epilepsy	Lactic acidosis	ORPHA:3006
Complement Component 5 Deficiency	Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease	OMIM:609536
Nelson Syndrome	Increased urinary cortisol level, Hypokalemia	ORPHA:199244
Amish Lethal Microcephaly	Metabolic acidosis, Organic aciduria	ORPHA:99742
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Postnatal growth retardation, Conjugated hyperbilirubinemia, Renal cyst, Abnormal ser...	ORPHA:79303
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cleft p...	ORPHA:2059
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis	OMIM:615190
Visceral Myopathy 1	Aganglionic megacolon, Intestinal pseudo-obstruction, Gastroparesis, Diarrhea, Microcolon, Megacy...	OMIM:155310
Lujo Hemorrhagic Fever	Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:319213
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Pneumon...	ORPHA:26793
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233710
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated...	OMIM:606812
Fanconi Anemia, Complementation Group F	Short stature, Pneumonia, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Intrauterine gro...	OMIM:603467
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Long penis, Decreased circulating renin level	OMIM:202010
Pgm3-Cdg	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema...	ORPHA:443811
Microform Holoprosencephaly	Hypoplasia of penis, Renal agenesis, Short stature, Asthma, Cleft palate, Intrauterine growth ret...	ORPHA:280200
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Severe infection, Chronic kidney disease, Ele...	ORPHA:340
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypospadias, Postnatal growth retardation, Hyposerinemia, Gastroesophageal reflux, Esophagitis	ORPHA:79350
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Brain abscess, Anuria, Pneumonia, Meningitis, Severe infection, Myocarditis, Severe...	ORPHA:544482
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of...	ORPHA:139466
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Increased serum lactate, Elevated circulating creatinine ...	OMIM:274150
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Lactic acidosis, Aminoaciduria, Ketonuria	OMIM:614520
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Proteinuria, Thyroiditis, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic ...	ORPHA:79259
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Increased serum lactate, Hyperalaninemia, Severe lactic acidosis, Elevated circulating creatine k...	OMIM:615418
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurre...	ORPHA:293978
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Increased serum pyruvate	OMIM:604377
Alg6-Cdg	Macroglossia, Protein-losing enteropathy, Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures	OMIM:241410
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:233690
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis	ORPHA:199296
Chylomicron Retention Disease	Hypertriglyceridemia, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption, Hypochole...	ORPHA:71
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl...	ORPHA:73224
Microcephaly, Amish Type	Lactic acidosis	OMIM:607196
Immunodeficiency 12	Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Recurrent bacterial infections,...	OMIM:615468
Combined Oxidative Phosphorylation Deficiency 37	Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalan...	OMIM:618329
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Lactic acidosis, Ketonuria, Lacticaciduria, Aspiration pneumonia	OMIM:619167
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Recurrent sta...	OMIM:615816
Oculoskeletodental Syndrome	Renal agenesis, Short stature, Hypercalcemia, Hypercalciuria, Macroglossia, Mucopolysacchariduria...	OMIM:618440
Glycerol Kinase Deficiency	Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Ketoac...	OMIM:307030
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Sepsis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoal...	ORPHA:37042
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Gastrointestinal dysmotility, Growth delay, Micropenis, Hydronephrosis, D...	OMIM:617798
Feingold Syndrome	Esophageal atresia, Short stature, Duodenal atresia	ORPHA:1305
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Sepsis, Abnormality of the urinary system physio...	ORPHA:2552
Cardiogenic Shock	Increased serum lactate, Elevated circulating creatinine concentration, Metabolic acidosis, Oliguria	ORPHA:97292
Congenital Disorder Of Glycosylation, Type Ih	Diarrhea, Elevated circulating creatinine concentration, Hypoalbuminemia, Protein-losing enteropa...	OMIM:608104
Leigh Syndrome	Lactic acidosis, Increased serum lactate	OMIM:256000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Recurrent lower respiratory tract infections, Hypokalemia	OMIM:618426
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr...	ORPHA:168558
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Short stature, Gastric ulcer, Delayed puberty	OMIM:208060
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the...	ORPHA:90362
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Hypertyrosinemia, Cholangitis, Increased serum lactate, Lacticac...	OMIM:124000
Leprechaunism	Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl...	ORPHA:508
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ketonuria, Increased serum lactate, Hyperammonemia, Metabolic acidosis, 3-Met...	ORPHA:20
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short stature, Postnatal growth retard...	OMIM:257300
Mitochondrial Complex I Deficiency, Nuclear Type 37	Lactic acidosis, Increased serum lactate, Hypospadias	OMIM:619272
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr...	ORPHA:289548
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal renal morphology, Abnormal respiratory sys...	ORPHA:449280
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Recurrent viral infections, Se...	OMIM:606367
Mitochondrial Complex I Deficiency, Nuclear Type 20	Lactic acidosis, Dicarboxylic aciduria	OMIM:611126
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hypochol...	OMIM:607765
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Lactic acidosis, Increased circulating ferritin concentration, Increased serum lactate	OMIM:600462
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly...	OMIM:616539
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Dysuria, Malabsor...	ORPHA:3463
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Bloody diarrhea	OMIM:614328
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Proteinuria, Pneumonia, Skin rash, Abnormal circulating...	ORPHA:2298
Omenn Syndrome	Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection...	OMIM:603554
Trigonocephaly 1	High, narrow palate, Long penis, Meckel diverticulum	OMIM:190440
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis	ORPHA:1170
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly...	ORPHA:79282
Addison Disease	Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Incre...	ORPHA:85138
Infantile Liver Failure Syndrome 1	Lactic acidosis	OMIM:615438
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis	OMIM:618232
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia	OMIM:244460
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine...	ORPHA:480864
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Spontaneous pneumothorax	OMIM:618154
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Hepatitis, Chronic hepatitis, Recurrent bacterial infections, Sclerosing cholangitis, Chr...	OMIM:308230
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduri...	OMIM:614052
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine kinase concentra...	OMIM:619405
Combined Oxidative Phosphorylation Deficiency 40	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:618839
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia...	OMIM:208500
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P...	ORPHA:90791
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lactic acidosis, Hyperglycinemia	OMIM:614299
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Abnormal urine potassium concentration, H...	ORPHA:275761
Zygomycosis	Brain abscess, Renal insufficiency, Unusual skin infection, Fasciitis, Sinusitis, Pericarditis, G...	ORPHA:73263
Biotinidase Deficiency	Skin rash, Recurrent viral infections, Metabolic ketoacidosis, Recurrent candida infections, Hype...	ORPHA:79241
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Short stature, Apnea, Stomach cancer, Cleft p...	ORPHA:1052
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Enteric Anendocrinosis	Hyperchloremic metabolic acidosis	ORPHA:83620
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Meckel diverticulum, Episodic tachypnea, Dysphagia	ORPHA:163961
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft palate, Hydronephrosis...	OMIM:243605
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Diarrhea, Malabsorption	OMIM:600955
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased serum lactate, Abnormal circulating creatine kinase concentration, Abnormal circulating...	ORPHA:521411
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect...	OMIM:601495
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Recurrent skin infections, Sepsis	OMIM:612840
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Generalized aminoaciduria, Lactic acidosis,...	OMIM:251880
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Increased serum lactate	OMIM:614462
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ...	OMIM:616005
Idiopathic Bronchiectasis	Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre...	ORPHA:60033
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Barth Syndrome	Recurrent infections in infancy and early childhood, 3-Methylglutaconic aciduria, Intermittent la...	OMIM:302060
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Short stature, Growth delay, Severe intrauterine growth retardation, Intrauterine gro...	OMIM:614114
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Episodic metabolic acidosis, Ethylmalonic aciduria	OMIM:201470
Abetalipoproteinemia	Fat malabsorption, Abetalipoproteinemia	OMIM:200100
Bronchogenic Cyst	Pneumonia, Abnormal stomach morphology, Dyspnea, Dysphagia, Cough, Abnormal esophagus morphology	ORPHA:2357
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Osteoarthritis, Renal phosphate wasting, Renal tubula...	OMIM:307800
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Lactic acidosis, Increased serum lactate	OMIM:617710
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u...	ORPHA:913
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentration, Abetalipop...	ORPHA:96180
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Short stature, Unilateral renal agenesis, Pyloric stenosis, Renal cyst, Gastroesopha...	ORPHA:464306
Mitochondrial Neurogastrointestinal Encephalomyopathy	Lactic acidosis, Hyperalaninemia	ORPHA:298
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Hepatoblastoma, Hyponatremia, Hypoventilation, Oliguria, Reduced rena...	ORPHA:731
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Recurrent viral infections, Lymphadenitis, Recurrent bacterial infections, Recurrent f...	ORPHA:331206
Cat Eye Syndrome	Anal stenosis, Short stature, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atre...	OMIM:115470
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Lactic acidosis, Stress/infection-induced lactic acidosis, Elevated circulating creatine kinase c...	OMIM:618775
Combined Oxidative Phosphorylation Deficiency 3	Elevated lactate:pyruvate ratio, Hyponatremia, Elevated circulating creatine kinase concentration...	OMIM:610505
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Metabolic ketoacidosis, Seborrheic dermatitis, Hyperammonem...	OMIM:253260
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Short stature, High, narrow palate, Rectal prolapse, Adenomatous col...	ORPHA:79076
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Yellow Fever	Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Pseudo-Torch Syndrome 2	Lactic acidosis, Abnormal renal corticomedullary differentiation	OMIM:617397
Immunodeficiency 10	Recurrent bacterial infections, Recurrent infections	OMIM:612783
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Lactic acidosis, Hype...	ORPHA:466650
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ear infections, Unilateral...	ORPHA:221139
Monosomy 22Q13.3	Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal...	ORPHA:48652
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Sepsis, Hepatitis, Hyperuricemia, Hashimoto thyroiditis	ORPHA:199299
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Renal cyst, Birth length less than 3rd percentile, Gastro...	ORPHA:464311
Vici Syndrome	Recurrent respiratory infections, Elevated circulating creatine kinase concentration, Recurrent v...	OMIM:242840
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni...	OMIM:102700
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S...	OMIM:306400
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ...	ORPHA:139402
Immunodeficiency 31C	Villous atrophy, Short stature, Cough, Diarrhea, Bronchiectasis, Growth delay, Gastrointestinal e...	OMIM:614162
Jacobsen Syndrome	Multicystic kidney dysplasia, Short stature, Intestinal malrotation, Pyloric stenosis, Growth del...	ORPHA:2308
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Recurrent respiratory infections, Hypospadias, Increased serum lactate, M...	ORPHA:17
Proximal Spinal Muscular Atrophy	Metabolic acidosis, Recurrent aspiration pneumonia, Recurrent infections due to aspiration	ORPHA:70
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Lactic acidosis, Aminoaciduria	OMIM:616084
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a...	OMIM:612541
Sickle Cell Disease	Hematuria, Recurrent bacterial infections, Renal insufficiency	OMIM:603903
Isolated Complex I Deficiency	Lactic acidosis, Proximal tubulopathy, Increased serum pyruvate	ORPHA:2609
Chédiak-Higashi Syndrome	Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc...	ORPHA:167
Distal Deletion 12Q	Short stature, Ectopic kidney, High, narrow palate, Esophageal atresia, Pyloric stenosis, Microgl...	ORPHA:96149
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Horseshoe kidney, Narrow pala...	OMIM:235510
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Aganglionic megacolon, Intestinal malrotation,...	OMIM:229850
Miller-Dieker Lissencephaly Syndrome	Cleft palate, Intrauterine growth retardation, Pelvic kidney, Recurrent aspiration pneumonia, Duo...	OMIM:247200
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Decreased serum bile acid concentration, Fat malabsorption, Hyperbilirubinemia	OMIM:214950
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Abnormal renal morphology, High palate, Protein-losing enteropathy,...	ORPHA:1655
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Hyponatremia, Hyperkalemia, Pneumonia	ORPHA:90790
Combined Oxidative Phosphorylation Deficiency 12	Lactic acidosis, Increased serum lactate, Elevated circulating alpha-fetoprotein concentration	OMIM:614924
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atres...	OMIM:265380
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine le...	ORPHA:90794
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe...	ORPHA:51636
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Intestinal malrotation, Hypoxemia, Meckel diverticulum, Abnormal g...	ORPHA:2847
Hypoplasminogenemia	Decreased level of plasminogen, Duodenal ulcer, Nephrolithiasis	ORPHA:722
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis	ORPHA:255138
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration...	OMIM:619381
Serotonin Syndrome	Lactic acidosis, Acute kidney injury	ORPHA:43116
Interstitial Lung And Liver Disease	Lactic acidosis, Aminoaciduria, Hyperammonemia	OMIM:615486
Liver Disease, Severe Congenital	Chronic gastritis, Sepsis, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hypo...	OMIM:619991
Igg4-Related Pachymeningitis	Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr...	ORPHA:449427
Trichothiodystrophy 3, Photosensitive	Intrauterine growth retardation, Meckel diverticulum, Short stature, Pyloric stenosis	OMIM:616395
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Sepsis, Hype...	OMIM:614886
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D...	ORPHA:210122
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Hypospadias, Renal cyst, Furrowed tongue, High palate, Gastroesophageal reflux, Ve...	OMIM:616975
Combined Oxidative Phosphorylation Defect Type 23	Lactic acidosis	ORPHA:444013
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Rectal prolapse, Abnorma...	ORPHA:904
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Gastroesophageal reflux...	ORPHA:2092
Melas	Proteinuria, Increased serum lactate, Lactic acidosis, Focal segmental glomerulosclerosis, Proxim...	ORPHA:550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Hypospadias, Unilateral renal agenesis, Microphallus, Intrauterine growth r...	ORPHA:468631
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,...	ORPHA:247806
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cleft palate, Protein-losing enteropathy, High palate, Hypocalcemia, Micropenis, Hypoproteinemia,...	OMIM:235255
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Hypospadias, Lacticaciduria, Lac...	OMIM:252010
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Abnormality of the kidney, Adenomatous colonic polyposis, Desmoid tumors, Int...	ORPHA:261584
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Congenital Bile Acid Synthesis Defect Type 3	Fat malabsorption, Hyperbilirubinemia	ORPHA:79302
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Increased serum lactate	OMIM:617186
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ...	OMIM:277900
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Bronchiectasis, Chronic r...	ORPHA:244
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Lead Poisoning	Decreased HDL cholesterol concentration, Asthma, Chronic kidney disease, Abnormal respiratory sys...	ORPHA:330015
Gardner Syndrome	Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino...	ORPHA:79665
Chromomycosis	Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca	ORPHA:182
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Wolfram Syndrome 2	Neurogenic bladder, Gastric ulcer	OMIM:604928
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold...	ORPHA:586
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Recurrent bacterial infections, Periodontitis, Recurrent abscess formation, ...	OMIM:608233
Menke-Hennekam Syndrome 2	Chronic constipation, Duodenal ulcer	OMIM:618333
Metachromatic Leukodystrophy	Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde...	ORPHA:512
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small...	OMIM:175100
Acquired Methemoglobinemia	Acidosis	ORPHA:464453
Feingold Syndrome 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa...	OMIM:164280
Shwachman-Diamond Syndrome	Sinusitis, Skin rash, Eczema, Pneumonia, Recurrent viral infections, Osteomyelitis, Hypoamylasemi...	ORPHA:811
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Lactic acidosis, Osteomyelitis leading to amputation due to slow healing fractures, Metabolic aci...	OMIM:256810
Tarp Syndrome	Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis, High palate, Intrauterine growth re...	OMIM:311900
Wars2-Related Combined Oxidative Phosphorylation Defect	Lactic acidosis, Increased serum lactate	ORPHA:572798
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Renal hypoplasia, Intrauterine g...	OMIM:270100
Iniencephaly	Rhizomelia, Renal agenesis, Anal atresia, Duodenal atresia	ORPHA:63259
Diets-Jongmans Syndrome	Hypospadias, Short stature, Duodenal atresia	OMIM:618846
Vascular Ehlers-Danlos Syndrome	Hypospadias, Osteoarthritis, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokale...	ORPHA:286
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Multiple g...	ORPHA:733
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Anal stenosis, Re...	OMIM:107480
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Recurrent upper respiratory tract infections, Hyperkalemia, Enuresi...	ORPHA:293987
Immunodeficiency 47	Recurrent bacterial infections, Decreased circulating copper concentration, Hypercholesterolemia,...	OMIM:300972
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Hypercalcemia, Hematemesis, Diarrhea, Hypercalciuria, Nephrolithias...	ORPHA:652
Holoprosencephaly 13, X-Linked	Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal...	OMIM:301043
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Renal agenesis, Posteriorly placed anus, Horseshoe kidney, Anal atresia, En...	OMIM:306955
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Recurrent respiratory infections, Renal insufficiency, Hypercholesterolemia, Increase...	OMIM:619534
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Short stature, Intestinal malrotation, Ectopic kidney, Postnatal growth...	OMIM:135900
Tarp Syndrome	Apnea, Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, Intrauterine g...	ORPHA:2886
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Dextrocardia	Meckel diverticulum, Abnormal renal morphology, Abnormality of the ureter, Intestinal malrotation	ORPHA:1666
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Lactic acidosis, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine ...	OMIM:603041
Charge Syndrome	Anal stenosis, Renal agenesis, Postnatal growth retardation, Esophageal atresia, Renal hypoplasia...	OMIM:214800
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections	OMIM:248500
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Chronic diarrhea, Decreased LDL cholesterol concentratio...	ORPHA:14
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormali...	ORPHA:2273
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Renal insufficiency, Hepatitis, Uveitis, Ulcerative colit...	ORPHA:171
Mccune-Albright Syndrome	Hyperphosphaturia, Hepatitis, Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemi...	ORPHA:562
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Periodontitis, Recur...	OMIM:214500
Spondyloocular Syndrome	Short stature, Duodenal ulcer	OMIM:605822
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Severe lactic a...	OMIM:220111
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Acholic stools, Fat malabsorption, Dark yellow urine	ORPHA:30391
Andersen-Tawil Syndrome	Short stature, Renal hypoplasia, Renal tubular dysfunction, Growth delay, High palate	ORPHA:37553
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palate, Nephrotic syndrome, High palat...	OMIM:601776
Histiocytoid Cardiomyopathy	Lactic acidosis, Renal cyst	ORPHA:137675
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Hypospadias, Horseshoe kidney, Anteriorly placed anus,...	ORPHA:1708
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Acute Liver Failure	Skin rash, Hepatitis, Hyperammonemia, Alkalosis, Acidosis, Acute kidney injury	ORPHA:90062
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia	ORPHA:99104
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypospadias, Hyperkalemia, Horseshoe kidney, Micropenis, Chordee, Vesicovaginal fis...	OMIM:201750
Fraser Syndrome 1	Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Cle...	OMIM:219000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Esophageal varix, Growth delay, Gastric ulcer, Delayed puberty,...	ORPHA:2072
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Emphys...	OMIM:619472
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Chronic kidney disease, Recurrent Staphylococcus aureus infections, Sep...	ORPHA:642

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 Car2

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 Car2.

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

Title	Journal	IMPC Allele	PubMed ID
Carbonic anhydrase 2 deficiency leads to increased pyelonephritis susceptibility.	American journal of physiology. Renal physiology (August 2014)	Car2^{tm1(KOMP)Vlcg}	PMC4187042

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MGI Allele	Allele Type	Produced
Car2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Car2^{tm368664(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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