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Gene: Slc12a1 MGI:103150

Gene Summary

Name:

solute carrier family 12, member 1

Synonyms:

urehr3, mBSC1, D630042G03Rik, Nkcc2

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating creatinine level	Slc12a1^urehr3	HOM	Early adult	2.21×10^-08
increased circulating calcium level	Slc12a1^urehr3	HOM	Early adult	1.40×10^-07
decreased body weight	Slc12a1^urehr3	HOM	Early adult	8.05×10^-06
increased blood urea nitrogen level	Slc12a1^urehr3	HOM	Early adult	8.41×10^-33
decreased hematocrit	Slc12a1^urehr3	HOM	Early adult	9.19×10^-05
decreased circulating chloride level	Slc12a1^urehr3	HOM	Early adult	1.43×10^-11
decreased hemoglobin content	Slc12a1^urehr3	HOM	Early adult	4.36×10^-05
increased circulating amylase level	Slc12a1^urehr3	HOM	Early adult	1.90×10^-09

Download data as: TSV XLS

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Viewing: all phenotypes

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Viewing: all phenotypes

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 Slc12a1 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 Slc12a1 (1 diseases)
Human diseases predicted to be associated with Slc12a1 (1892 diseases)

The table below shows human diseases associated to Slc12a1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bartter Syndrome, Type 1, Antenatal		Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678

The table below shows human diseases predicted to be associated to Slc12a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Bartter Syndrome Type 4	Renal salt wasting, Nephrocalcinosis, Increased circulating renin level, Hyponatremia, Impaired r...	ORPHA:89938
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:241200
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro...	ORPHA:320
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo...	OMIM:300539
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph...	OMIM:143880
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi...	OMIM:601198
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly...	OMIM:222100
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Sudden cardiac death, Abnormal renal tubular resorption, Congest...	ORPHA:73224
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi...	OMIM:613090
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lacta...	OMIM:613845
Distal Renal Tubular Acidosis	Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo...	ORPHA:18
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ...	OMIM:177200
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate...	OMIM:300555
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Hypercalcemia, Parathormone-independent increased renal tubula...	OMIM:600740
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular ...	OMIM:602722
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hypokalemia, Hyp...	OMIM:613677
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati...	OMIM:610600
Autosomal Dominant Hypocalcemia	Eczema, Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis,...	ORPHA:428
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Me...	ORPHA:231625
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca...	OMIM:613388
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Osteomalacia, Decreased circulating p...	ORPHA:157215
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc...	OMIM:602522
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Metabolic acidosis, Renal co...	OMIM:611555
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai...	OMIM:239199
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le...	OMIM:615751
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst	ORPHA:2668
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, D...	OMIM:203400
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Parathormone-independent in...	ORPHA:405
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi...	OMIM:614732
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis...	OMIM:103900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos...	OMIM:607364
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Hypomagnesemia	OMIM:613882
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss...	OMIM:300009
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri...	ORPHA:94080
East Syndrome	Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald...	ORPHA:199343
Gitelman Syndrome	Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Hypomagnesemia, ...	OMIM:263800
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed...	OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Decreased circulating parathyroid hormone level, Ab...	OMIM:241530
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Hypertension, Internal hemorrhage	ORPHA:69077
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556030
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr...	ORPHA:90795
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Fanconi-Bickel Syndrome	Osteopenia, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Rickets, Hypercalciuria, ...	ORPHA:2088
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Large for gestational age, Ricke...	OMIM:616026
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular b...	OMIM:615474
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale...	ORPHA:427
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Hyp...	OMIM:241500
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent...	OMIM:612780
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Metabolic acid...	OMIM:611590
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Fanconi-Bickel Syndrome	Chronic acidosis, Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Acidosis, Keton...	OMIM:227810
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	ORPHA:275555
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma	OMIM:617343
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Hypertensi...	ORPHA:231632
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus,...	OMIM:613404
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Macroscop...	ORPHA:251004
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Decreased urinary p...	ORPHA:95409
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchloremic metabo...	ORPHA:3337
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Primary hyperparathy...	OMIM:239200
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Polyhydramnios, Funct...	ORPHA:223
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Hyperkalemic metabolic acidosis, Premat...	ORPHA:90794
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ...	ORPHA:97362
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Gener...	ORPHA:416
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Lactic acidosis, Hypogonadism, Hypocalcemia, Failure to thrive	ORPHA:163693
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Osteoporosis, Nephrolithiasis, Increased circulating ACTH level, Obesity, Alka...	OMIM:219090
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia...	ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia	OMIM:304800
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr...	ORPHA:276621
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hypoparathyroidism, Hyperphosphaturia, Hip contracture, Hypercalcemia, Hypercalciuria...	OMIM:156400
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Dehydration, Hematuria, Hypernatremia	ORPHA:35710
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet...	ORPHA:97289
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, ...	ORPHA:469
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Small for gestational age, Elbow flexion contracture, Hypercalciur...	OMIM:618440
Adamantinoma	Hypercalcemia	ORPHA:55881
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Increased serum lact...	OMIM:615158
Apparent Mineralocorticoid Excess	Small for gestational age, Metabolic alkalosis, Hypertension, Hypokalemia, Failure to thrive, Dec...	OMIM:218030
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia	ORPHA:2123
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El...	OMIM:612089
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:85138
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary rena...	OMIM:145001
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A...	ORPHA:54057
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabe...	OMIM:208085
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne, Periosteal thickening of lo...	OMIM:167100
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ...	ORPHA:411543
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Congestive ...	ORPHA:31824
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor...	OMIM:214700
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Central Diabetes Insipidus	Hyponatremia, Polydipsia, Nocturia, Anorexia	ORPHA:178029
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P...	ORPHA:29072
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp...	OMIM:146200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Renal Tubular Acidosis Iii	Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino...	OMIM:267200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin...	OMIM:264350
Focal Segmental Glomerulosclerosis 6	Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis...	OMIM:614131
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla...	OMIM:619386
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr...	ORPHA:94093
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Abnormal circulating renin, Nephrolithiasis,...	ORPHA:369929
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortened QT interval, Primary hyperparathyr...	ORPHA:143
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Pulmonic stenosis	OMIM:613312
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u...	OMIM:617872
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ede...	OMIM:256300
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ...	OMIM:603358
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser...	OMIM:619743
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Metabolic acidosis, Hypertension, Decreased serum bicarbonate concentration, Pseudo...	OMIM:614492
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos...	ORPHA:213
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Lactic acidosis, Focal segmenta...	OMIM:232200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas...	ORPHA:90791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Nephrotic Syndrome, Type 2	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:600995
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Hyper-Beta-Alaninemia	Increased urinary taurine, Failure to thrive, Hyperbeta-alaninemia	OMIM:237400
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Metabolic acidosis, Am...	OMIM:615605
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Short stature, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-w...	OMIM:604278
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera...	ORPHA:168558
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, H...	ORPHA:3008
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism...	OMIM:177735
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortened QT interval, Primary hyperparathyr...	ORPHA:99880
Threoninemia	Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Hashimoto thyroid...	ORPHA:49041
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetali...	OMIM:619003
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Iminoglycinuria	Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Increas...	OMIM:274150
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Metabolic acidosis, Increased level of L-pyroglutamic acid in urine, Glyoxalase...	OMIM:231900
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Increased ...	OMIM:606407
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokalem...	OMIM:617913
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Joint hypermobility, Reduced circulating prolactin ...	OMIM:223360
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Short st...	ORPHA:1667
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias...	OMIM:259900
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria	OMIM:239510
Citrullinemia, Classic	Failure to thrive, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia int...	OMIM:215700
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Juvenile Nephropathic Cystinosis	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri...	ORPHA:411634
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Glycogen Storage Disease Ib	Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Lactic acidosis, Focal segmenta...	OMIM:232220
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur...	OMIM:615398
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Hypo...	OMIM:276700
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Saccharopinuria	Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, Hy...	OMIM:268700
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin...	ORPHA:3467
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib...	ORPHA:439232
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Anemia	ORPHA:436
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial m...	OMIM:602114
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper...	OMIM:614473
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Hand-Foot-Genital Syndrome	Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Pyelonephritis, Chordee, De...	OMIM:140000
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydroneph...	OMIM:615926
Nephrotic Syndrome, Type 9	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum...	OMIM:615573
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat...	ORPHA:94090
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutami...	OMIM:311250
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy...	OMIM:616733
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur...	OMIM:239500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate aminotransferase co...	OMIM:619048
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Joint laxity, Congestive heart failure, Nephrocalcinosis, Failure to thrive, Diabetes insipidus	ORPHA:500533
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro...	OMIM:612462
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Genetic Recurrent Myoglobinuria	Dark urine, Myositis, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Galactosemia Iii	Failure to thrive, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Abnormality of bone mineral...	ORPHA:3156
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Infantile Myofibromatosis	Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis	ORPHA:2591
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita...	OMIM:202010
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co...	OMIM:618183
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta...	OMIM:222748
Hardikar Syndrome	Hypoplasia of the bladder, Decreased serum insulin-like growth factor 1, Renal insufficiency, Rec...	OMIM:301068
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis, Failure to thrive	OMIM:236795
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidos...	OMIM:612075
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine, Abnorm...	ORPHA:391457
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Argininosuccinic Aciduria	Failure to thrive, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia int...	OMIM:207900
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel...	ORPHA:653
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Increased serum la...	OMIM:617021
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Lesch-Nyhan Syndrome	Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Podagra, Testicular atrophy	OMIM:300322
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Gout, ...	OMIM:232240
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Acute hepatic failure, Elevated hepatic transaminase, Ketonuria,...	OMIM:615453
Wilson Disease	Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouri...	OMIM:277900
Galactosemia I	Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:230400
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Hypoalbuminemi...	ORPHA:84090
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Mu-Heavy Chain Disease	Bence Jones Proteinuria, Osteoporosis, Osteolysis, Weight loss, Nephropathy	ORPHA:100024
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy...	ORPHA:36913
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia, Hyperglycemia	OMIM:615986
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Hepatic fail...	OMIM:557000
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Hyperinsulinemia, Elevate...	ORPHA:230
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Lactic acidosis, Inflammation of the large intestine, Periodontitis...	ORPHA:79259
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal...	OMIM:229600
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614496
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco...	OMIM:618913
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul...	OMIM:616239
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo...	ORPHA:2238
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl...	OMIM:620366
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ...	OMIM:610725
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Metabolic acidosis, Ethyl...	ORPHA:26792
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Met...	ORPHA:445038
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Heme Oxygenase 1 Deficiency	Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar h...	OMIM:614034
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Hypertryptophanemia	Camptodactyly of finger, Hypertryptophanemia, Generalized joint laxity, Tryptophanuria, Increased...	OMIM:600627
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla...	OMIM:618061
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Metabolic alkalo...	ORPHA:786
Valinemia	Hypervalinemia, Valinuria, Failure to thrive	OMIM:277100
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Scorpion Envenomation	Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Promin...	ORPHA:466677
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Nephropath...	OMIM:256150
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ...	OMIM:145600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Hypoglycemia, Ketoacidosis, Hy...	OMIM:618120
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis, Joint laxity, Diabetes insipidus, Slender build	OMIM:611087
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Renal insufficiency, Jaundice, Ascites, Increased total bilirubin	ORPHA:890
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Riboflavin Deficiency	Dicarboxylic aciduria, Hypoglycemia, Elevated circulating acylcarnitine concentration, Lactic aci...	OMIM:615026
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria	ORPHA:2613
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Generalized aminoaciduria	OMIM:606528
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery p...	OMIM:619351
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Atypical Hemolytic Uremic Syndrome	Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:2134
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D...	ORPHA:93111
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce...	ORPHA:417
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Obesity	OMIM:615633
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:614582
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Renal insufficiency, Hyperammonemia, Dehydration	ORPHA:28
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, R...	OMIM:615993
Hereditary Coproporphyria	Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ...	ORPHA:79273
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss	ORPHA:79238
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Acidosis, Abnormal blood ion concentr...	ORPHA:173
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive	ORPHA:2278
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614495
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce...	OMIM:617093
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis	ORPHA:3327
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, ...	ORPHA:199299
Listeriosis	Pericarditis, Osteomyelitis, Stiff neck, Pneumonia, Pustule, Myocarditis, Peritonitis, Congestive...	ORPHA:533
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea...	ORPHA:324525
Propionic Acidemia	Pancytopenia, Increased level of hippuric acid in urine, Short stature, Hypoglycemia, Thrombocyto...	OMIM:606054
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu...	ORPHA:85285
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:6
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Decreased response to growth h...	ORPHA:94089
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Camptodactyly 1	Increased urinary taurine, Camptodactyly of finger	OMIM:114200
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur...	ORPHA:289504
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hypoglycemia, Increased serum lactate, Lactic acidosis, Organic aciduria	OMIM:614741
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic ...	ORPHA:404
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin...	OMIM:264700
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem...	ORPHA:36234
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Saccharopinuria	Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul...	ORPHA:3124
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Nephrolithiasis, H...	ORPHA:93160
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Increased serum lactate, H...	OMIM:615160
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Carnosinuria	OMIM:309930
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis, Osteoporosis	OMIM:204730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Urolithiasis, Gout, Hyperuricosuria,...	OMIM:300661
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Macdermot-Winter Syndrome	Camptodactyly of finger, Hydronephrosis	OMIM:247990
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Failure to thrive, Hypocalcemia	ORPHA:172
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Hydrops fetalis, Oligohydramnios, Nephropathy,...	ORPHA:1909
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Respiratory alkalosis, Hepatitis, Hyperammonemia, Hyperornithinemia, Oroticaci...	ORPHA:415
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Increased hematocrit, Ascites, Polycyth...	ORPHA:284227
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci...	OMIM:620300
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Recurrent urinary tract infections, Abnormal cardiac ventricular function, Congesti...	ORPHA:90349
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon...	ORPHA:534
Lipoyltransferase 1 Deficiency	Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a...	OMIM:616299
Pearson Syndrome	Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys...	ORPHA:699
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule...	ORPHA:247353
Leprechaunism	Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem...	ORPHA:508
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Microvillus Inclusion Disease	Nephrocalcinosis, Metabolic acidosis, Hypovolemia, Abnormal renal physiology	ORPHA:2290
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
46,Xy Sex Reversal 4	Renal dysplasia, Distal symphalangism, Hypergonadotropic hypogonadism, Elevated circulating creat...	OMIM:154230
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Short stature, Hypoglycemi...	ORPHA:369
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated hepatic transaminase, Elevated circul...	ORPHA:2394
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, Metab...	OMIM:246450
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia...	OMIM:201750
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Anemia	ORPHA:510
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Hawkinsinuria	Metabolic acidosis, Abnormal circulating tyrosine concentration, 4-hydroxyphenylacetic aciduria, ...	ORPHA:2118
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormal locali...	ORPHA:446
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Glutaric Acidemia Type 3	Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir...	ORPHA:35706
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort...	OMIM:120330
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Hyp...	OMIM:251000
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Flexion contracture	OMIM:617105
Johanson-Blizzard Syndrome	Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Edema, Intrauterine growth re...	ORPHA:2315
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur...	ORPHA:289157
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro...	ORPHA:182050
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia	OMIM:238750
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Argininemia	Diaminoaciduria, Hyperammonemia	ORPHA:90
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co...	ORPHA:1031
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hypoglycemia, Increased serum lactate, Proximal renal tubular acidosis,...	OMIM:266150
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d...	OMIM:615244
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hydronephrosis	OMIM:615996
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo...	OMIM:181270
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ...	ORPHA:91500
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Hypoglycemia, Elevated circulating aspartate aminotransferase co...	OMIM:245400
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Combined Oxidative Phosphorylation Deficiency 5	Edema, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Growth delay...	OMIM:611719
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test	OMIM:229100
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P...	ORPHA:447
Diffuse Alveolar Hemorrhage	Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Pulmonary ven...	ORPHA:90060
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Ketoacidosis, Lactic acido...	OMIM:246900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Tachycardia, Skin rash, Heart block, Elevated circulating creati...	ORPHA:542323
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Nephrotic syndrome, Lymphedema	ORPHA:69061
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l...	OMIM:272300
Rhyns Syndrome	Osteopenia, Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Renal phosphat...	OMIM:307800
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Gastritis, Atrial fibrillation, C...	ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Increased serum lactate, Pericardial effusion, Hyperammonemia, Lactic acidosis, Met...	OMIM:614702
Attrv30M Amyloidosis	Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phys...	ORPHA:85447
Stimmler Syndrome	Aminoaciduria, Type II diabetes mellitus	ORPHA:3199
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy, Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Foot joint contracture, Uveitis, Hypertension, Conjunctivitis, ...	ORPHA:90321
Leptospirosis	Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum transaminases durin...	ORPHA:509
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Lactic acidosis, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocyto...	ORPHA:67048
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus, Abnormal circulating...	ORPHA:225
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyr...	OMIM:103580
Citrullinemia Type I	Elevated plasma citrulline, Respiratory alkalosis, Failure to thrive, Hyperammonemia	ORPHA:247525
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Propionic Acidemia	Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:35
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Fail...	OMIM:237300
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p...	ORPHA:352540
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Lactic acidosis	OMIM:616084
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Splenomegaly, ...	OMIM:615895
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Senior-Loken Syndrome 9	Osteopenia, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, ...	OMIM:616629
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,...	ORPHA:159
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Skin rash, Acidosis, Hepatitis, Hyperammonemia, Alkalosis, In...	ORPHA:90062
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Decreased plasma free c...	OMIM:608836
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Monosomy 13Q34	Epistaxis, Hypercalcemia, Fetal pyelectasis, Obesity, Hematochezia, Pulmonic stenosis	ORPHA:96168
Carnosinemia	Carnosinuria	OMIM:212200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d...	OMIM:268200
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Membranoproliferative ...	OMIM:619644
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating enzyme concentration or activity, Abnormal erythrocyte enzyme ...	ORPHA:100924
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab...	OMIM:251120
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia, Chronic metabolic...	OMIM:266130
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Hypoglycemia, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic ac...	OMIM:618253
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
Autosomal Dominant Cutis Laxa	Osteopenia, Aortic regurgitation, Joint laxity, Unilateral renal agenesis, Congestive heart failu...	ORPHA:90348
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Cranioectodermal Dysplasia 1	Joint laxity, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney disease, Osteopo...	OMIM:218330
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Metabolic acidosis, Anemia, Hypoglycemia	OMIM:610090
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsulinemia, Insulin-res...	ORPHA:769
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Polyhydramnios, Lactic acidosis, Metabolic acidosis, Hyperglycin...	OMIM:615330
Snakebite Envenomation	Hyponatremia, Edema, Angioedema, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc...	ORPHA:79473
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Hypoalbuminemia, Hypotriglycerid...	ORPHA:2298
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria	ORPHA:1933
Sarcoidosis	Heart block, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Hy...	ORPHA:797
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic acidemia, Methylmalonic aciduria, Hyperhomocystinemia, Failure to thrive, Homocysti...	OMIM:309541
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Holocarboxylase Synthetase Deficiency	Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Perioral eczema	ORPHA:79242
Lymphangiectasia, Intestinal	Edema, Pedal edema, Stillbirth, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Familial Mediterranean Fever	Pericarditis, Proteinuria, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Peritoniti...	ORPHA:342
8P23.1 Duplication Syndrome	Adrenal insufficiency, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Adrenal insuf...	ORPHA:85445
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys...	OMIM:615382
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, Postnatal growth retardation, Splenomegaly, Abnormal renal morphology, Hepatosple...	ORPHA:1655
Idiopathic Achalasia	Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Nephropathy, Hypothyroidism	ORPHA:1563
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Raynaud phenomenon, Elevated circ...	ORPHA:247691
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, Growth delay, N...	ORPHA:289916
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul...	ORPHA:91139
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Hypoglycemia, Increased serum lactate, Postnatal growth retardat...	OMIM:616111
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Hypera...	OMIM:251110
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, I...	OMIM:267700
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th...	OMIM:251100
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Renal insufficiency, Intrauterine growth retardation, Micropenis, ...	OMIM:613861
Majeed Syndrome	Glomerulopathy, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteo...	ORPHA:77297
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
3-Methylglutaconic Aciduria Type 1	3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Sarcosinemia	Hypersarcosinuria, Hypertrophic cardiomyopathy, Hypersarcosinemia, Pulmonic stenosis	ORPHA:3129
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
Beta-Ketothiolase Deficiency	Ketonuria, Increased serum lactate, Ketoacidosis, Hyperammonemia, Weight loss, Metabolic acidosis...	ORPHA:134
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone...	ORPHA:89936
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Image Syndrome	Hypospadias, Hypogonadism, Hydronephrosis, Adrenal hypoplasia	ORPHA:85173
Diabetes Mellitus, Permanent Neonatal, 4	Reduced C-peptide level, Small for gestational age, Elevated hemoglobin A1c	OMIM:618858
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Reduced circulating aldolase concentra...	ORPHA:57
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Increased bone mineral density, Hypergonadotropic hypogonadism...	ORPHA:79444
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Increased serum lactate, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-...	OMIM:604273
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina...	ORPHA:42
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ...	OMIM:240300
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Short stature, Elevated circulating creatine kinase concentration	ORPHA:408
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Acute pancreatitis, Chilblains, Pericard...	OMIM:619487
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter...	OMIM:194050
Lessel-Kubisch Syndrome	Renal insufficiency, Short stature, Renal hypoplasia	OMIM:618681
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Hydronep...	OMIM:598500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Elevated hepatic transaminase, Generalized edema, Hypertriglyceridemia, Pancytopeni...	OMIM:603553
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Elevated circulating alanine ami...	OMIM:261680
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Lymphedema, Splenomegaly, Hypocalcemia, Hepatic failure, Micropenis, Ascites, Hyp...	OMIM:235255
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Homocarnosinosis	Carnosinuria	OMIM:236130
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Increased u...	ORPHA:348
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Familial Reactive Perforating Collagenosis	Diabetes mellitus, Chronic kidney disease	ORPHA:79147
Necrotizing Enterocolitis	Hyponatremia, Edema, Increased serum lactate, Leukocytosis, Metabolic acidosis, Ascites, Abnormal...	ORPHA:391673
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:656
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Met...	OMIM:210210
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc...	OMIM:605850
Isovaleric Acidemia	Pancytopenia, Ketoacidosis, Hyperglycinuria, Dehydration, Metabolic acidosis, Leukopenia, Thrombo...	OMIM:243500
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Angina pectoris, Telangiectas...	ORPHA:758
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, Neutropenia, An...	ORPHA:79312
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Failure to thrive, Hypercalcemia	ORPHA:476126
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacar...	ORPHA:2774
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Nephrocalcinosis, Joint contracture, Failure to thrive, Hypothyroidism	OMIM:618005
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA reduct...	OMIM:616034
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Growth delay, Psoriasiform dermatitis, Hypoalbuminemia, Hypernatremia	OMIM:615508
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Organic aciduria, Neonatal death	OMIM:617184
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hypoglycemia, Increased serum lactate, Hyp...	ORPHA:391428
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma, Weight loss	ORPHA:654
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Leukopenia...	ORPHA:27
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas...	ORPHA:100083
Rhyns Syndrome	Osteopenia, Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic k...	OMIM:602152
Phenylketonuria	Aminoaciduria	ORPHA:716
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration, Metabolic acidosis, Decreased liver function, Neonatal death, Myoglobinuria	OMIM:602199
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Thyrocerebroretinal Syndrome	Nephritis, Goiter	OMIM:274240
Primary Intestinal Lymphangiectasia	Lymphopenia, Edema, Pericardial effusion, Growth delay, Reduced proportion of CD4+ effector memor...	ORPHA:90362
Tyrosinemia Type 1	Generalized aminoaciduria, Rickets of the lower limbs	ORPHA:882
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Congestive heart failure, Recurrent pneumonia, Flexion contracture, Nephrotic syndro...	OMIM:617303
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia, Methylmalonic aciduria, Lactic acidosis, Metabolic acidosis, Elevate...	OMIM:248360
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu...	ORPHA:99901
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
Alkaptonuria	Vertebral fusion, Elevated urinary homogentisic acid, Nephrolithiasis, Limited shoulder movement,...	OMIM:203500
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Increased ...	OMIM:617950
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Dehydration, Acidosis, Hypona...	ORPHA:275761
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic acidur...	OMIM:614739
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	OMIM:611773
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me...	ORPHA:900
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:616974
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, P...	ORPHA:188
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Flexion contracture...	ORPHA:79243
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Lactic acidosis,...	OMIM:306000
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Failure to thrive, Hypospadias, Decreased response ...	ORPHA:363528
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Edema,...	OMIM:617575
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Increased circulating NT-proBNP c...	ORPHA:85443
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Respiratory acidosis, Nephrotic syndrome, Focal segmental glome...	OMIM:614748
Glucose/Galactose Malabsorption	Metabolic acidosis, Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria	OMIM:606824
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri...	OMIM:212138
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Decreased calvarial ossification, Decreased body weight, Vesicoureteral reflux,...	OMIM:618265
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine...	OMIM:614455
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hypoglycemia, Hyperglycinuria, Metabolic acidosis, Medium chain di...	OMIM:201450
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:26791
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par...	OMIM:617994
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Muckle-Wells Syndrome	Renal insufficiency, Short stature, Elevated circulating C-reactive protein concentration, Leukoc...	OMIM:191900
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Pediatric Systemic Lupus Erythematosus	Dark urine, Myositis, Renal insufficiency, Proteinuria, Skin rash, Discoid lupus rash, Raynaud ph...	ORPHA:93552
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Congenital Myopathy 19	Renal atrophy, Hydronephrosis, Dysphagia	OMIM:618578
Gracile Syndrome	Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h...	ORPHA:53693
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Shigellosis	Hyponatremia, Hypoglycemia, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, Abnormal blood i...	ORPHA:810
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Increased serum lactate, Splenomegaly, Hyperprolinem...	OMIM:619046
Fibrous Dysplasia Of Bone	Thin bony cortex, Hyperthyroidism, Precocious puberty in females, Osteomalacia, Hypercalcemia, El...	ORPHA:249
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydroureter, Hydronephrosis	OMIM:618240
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Renal steatosis, Hypoglycemia	OMIM:261650
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia	OMIM:619073
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Increased serum lactate, Methylmalonic aciduria, Lactic acidosis, Intrauterine...	OMIM:615578
Kenny-Caffey Syndrome, Type 1	Decreased skull ossification, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Calvar...	OMIM:244460
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Renal cyst, Lacti...	OMIM:614922
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of the upper urinary tract, Limitation of joint mobility...	ORPHA:873
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Moderate postnat...	ORPHA:69076
Mccune-Albright Syndrome	Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Renal phospha...	ORPHA:562
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve...	ORPHA:941
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	OMIM:608688
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Edema, Growth delay, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Ascites, Hypoprotei...	OMIM:226300
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Grade II vesicoureteral reflux, Reduced bone mineral density, W...	OMIM:619377
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Hypoglycemia, Throm...	OMIM:617053
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Hyperglycinuria, Lact...	OMIM:605711
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Elevated gamma-glutamy...	ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci...	ORPHA:79155
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe...	ORPHA:727
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De...	ORPHA:79159
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li...	ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hypoglycemia, Increased serum lactate, Dehydration, Metabolic acid...	OMIM:618958
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica...	OMIM:618250
Congenital Disorder Of Glycosylation, Type Ih	Edema, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Decrease...	OMIM:608104
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased circ...	ORPHA:26793
Alg8-Cdg	Hyponatremia, Elevated hepatic transaminase, Edema, Thrombocytopenia, Hydrops fetalis, Intrauteri...	ORPHA:79325
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial i...	ORPHA:904
Jeune Syndrome	Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Beckwith-Wiedemann Syndrome	Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra...	ORPHA:116
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic...	OMIM:619055
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly...	ORPHA:79240
Fanconi Anemia, Complementation Group O	Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis	OMIM:613390
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, In...	OMIM:615824
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra...	OMIM:612073
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Hematuria, Lym...	ORPHA:549
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:609015
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxyli...	OMIM:613070
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Cr...	OMIM:301056
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lact...	OMIM:618835
Hyperchlorhidrosis, Isolated	Hyponatremia, Hypernatremic dehydration, Hyperkalemia	OMIM:143860
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Myositis, Sinusitis, Renal insufficiency, Increased inflammatory response, Protei...	ORPHA:183
Diabetes Mellitus, Permanent Neonatal, 1	Reduced C-peptide level, Small for gestational age, Elevated hemoglobin A1c	OMIM:606176
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lact...	OMIM:618839
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Familial Expansile Osteolysis	Hydroxyprolinuria, Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis, Hyperammonemia, Hypoglycemia	OMIM:620137
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom...	OMIM:254900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Failure t...	OMIM:236270
Enterokinase Deficiency	Hypoproteinemia, Hypoproteinemic edema	OMIM:226200
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Intrauterine growth retardation, Neonatal death	OMIM:301021
Endove Syndrome, Limb-Brain Type	Joint laxity, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections, Failure to t...	OMIM:619218
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati...	OMIM:241410
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Short stature, Thrombocytope...	OMIM:260400
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, ...	OMIM:232700
Glucocorticoid Resistance, Generalized	Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis...	OMIM:615962
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Psoriasiform dermati...	ORPHA:2237
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Igg4-Related Aortitis	Increased inflammatory response, Hydronephrosis, Elevated circulating C-reactive protein concentr...	ORPHA:449400
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Hepatosplenomegal...	ORPHA:541423
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia	ORPHA:403
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia, Joint hypermobility	OMIM:300990
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Intrauterine growth retardation, Metabolic acidosis, Neonatal death	OMIM:618237
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Abnormal circulating enzyme concentration or activ...	ORPHA:79276
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased seru...	OMIM:617713
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Nonketotic hypoglycemia, Ketonuria, Edema, Increased serum lactate...	ORPHA:20
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ...	ORPHA:436271
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Early os...	OMIM:208500
Meningococcal Meningitis	Shock, Renal insufficiency, Stiff neck, Skin rash, Elevated circulating C-reactive protein concen...	ORPHA:33475
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Bone cyst, Bronchiectasis, Uveitis, Hypercalciuria, Weight loss, Arthritis, Inflam...	OMIM:181000
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Increased serum lactate, Postn...	OMIM:613027
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:618528
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Castleman Disease	Myelofibrosis, Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight...	ORPHA:160
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a...	ORPHA:79101
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Lymphedema	ORPHA:1116
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Increased serum lactate, Hypochromic microcytic an...	OMIM:619147
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Fulminant hepatic failure, Increased serum lactate, Metabolic ac...	OMIM:609060
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Lacticaciduria	OMIM:618247
Lysinuric Protein Intolerance	Failure to thrive, Hypolysinemia, Recurrent fractures, Increased serum lactate, Increased circula...	OMIM:222700
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hypertensive crisis, Diabetes mellitus, Anuria, Pneumonia, Myocarditis, Pancreatiti...	ORPHA:544482
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Short stature, Type II diabetes mellitus, Displacement ...	ORPHA:2377
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, My...	ORPHA:732
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Lactic acidosis, Intrauterine growth retardation, Anemia, Oligohydramnios	OMIM:620135
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Oligohydramnios	OMIM:619053
Hsd10 Mitochondrial Disease	Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis, Hypoglycemia	OMIM:300438
Mercury Poisoning	Tachycardia, Hypertension, Interstitial pneumonitis, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e...	ORPHA:48435
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis	ORPHA:634
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos...	OMIM:220110
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Meta...	OMIM:312170
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Hyperlipidemia, Reduced bone mineral density, A...	ORPHA:1414
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Stiff neck, Maculopapular exanthema, Skin rash, Elevated circulating ...	ORPHA:319213
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala...	ORPHA:2614
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Glutaric Acidemia I	Ketonuria, Hypoglycemia, Glutaric aciduria, Metabolic acidosis, Reduced peroxisomal glutaryl-CoA ...	OMIM:231670
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, En...	ORPHA:90051
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena...	OMIM:609757
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Myoca...	ORPHA:36426
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Increased serum lactate, Methylma...	OMIM:614105
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth...	OMIM:617321
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia, Maternal diabetes	ORPHA:3157
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Transient ischemic attack, Adrenal calcification, Osteomalacia, Left ventricul...	ORPHA:51608
Familial Tumoral Calcinosis	Nephrocalcinosis, Hyperostosis, Skin rash	ORPHA:53715
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Hypomagnesemia	OMIM:619908
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Ep...	OMIM:210200
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia	ORPHA:375
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Hydronephrosis	OMIM:619797
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Decreased serum creat...	OMIM:618885
D-Glyceric Aciduria	Hypoglycemia, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia, Metabolic ...	OMIM:220120
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Generalized edema	OMIM:207731
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O...	ORPHA:220393
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Recurrent fractures, Proximal renal tubular a...	ORPHA:2785
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc...	OMIM:253270
Tetraploidy	Hydronephrosis, Radial club hand, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia	ORPHA:3305
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lact...	OMIM:618838
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp...	ORPHA:466650
Sengers Syndrome	Increased serum lactate, Lactic acidosis, Growth delay, 3-Methylglutaconic aciduria, Exercise-ind...	OMIM:212350
Cystinuria	Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis	ORPHA:214
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Panhypophysitis	Hyponatremia, Polydipsia, Hyposthenuria	ORPHA:95513
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Portal hypertension, Hyper...	ORPHA:731
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Recurrent fractures, Precocious puberty, Horseshoe kidney, Hypopho...	OMIM:163200
Babesiosis	Hemolytic anemia, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Throm...	ORPHA:108
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypogl...	ORPHA:79282
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly...	ORPHA:264580
Solitary Fibrous Tumor	Reduced C-peptide level, Weight loss, Urinary retention, Hypophosphatemic rickets, Hypoinsulinemia	ORPHA:2126
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis, Polyhydramnios	OMIM:616794
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti...	OMIM:615559
Lactase Deficiency, Congenital	Metabolic acidosis, Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Hypertension, Hypoalbuminemia, Failure to thrive	OMIM:610965
Wolfram Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Abnormality of the urinary system...	ORPHA:3463
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Hyperlipidemia, Chronic ...	ORPHA:567546
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat...	ORPHA:199296
Pyloric Stenosis, Infantile Hypertrophic, 1	Failure to thrive, Hypochloremic metabolic alkalosis	OMIM:179010
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:616878
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Wei...	ORPHA:139402
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Small for gestational age, Fractured radius, Multiple prenatal fractures...	OMIM:616897
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency	OMIM:105120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Hypothyro...	OMIM:222300
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight	ORPHA:1672
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Hypogonadotropic hypogonadism, Dysuria, Oste...	ORPHA:35687
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b...	OMIM:612736
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve...	ORPHA:3208
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia...	ORPHA:167
Galloway-Mowat Syndrome 5	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-r...	OMIM:617731
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Proteinuria, Metabolic ketoacidosis, Abnormal circulating fatty-ac...	ORPHA:263455
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Whipple Disease	Hyponatremia, Polydipsia, Insulin resistance, Anorexia	ORPHA:3452
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve...	ORPHA:261222
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid...	OMIM:140350
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Hydronephrosis, Pulmonic stenosis, Camptodactyly	OMIM:179613
Gracile Bone Dysplasia	Failure to thrive, Micropenis, Decreased skull ossification, Hypocalcemia	OMIM:602361
Hartsfield Syndrome	Growth delay, Micropenis, Hypernatremia, Hypospadias	OMIM:615465
X-Linked Agammaglobulinemia	Weight loss, Anemia, Hypocalcemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:47
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Tachycardia, Elevated circulating creatine kinase c...	OMIM:614921
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria	ORPHA:33574
Liver Disease, Severe Congenital	Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Hypo...	OMIM:619991
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Metabolic acidosis,...	ORPHA:423
Osteogenesis Imperfecta	Osteopenia, Aortic regurgitation, Small for gestational age, Recurrent fractures, Cerebral hemorr...	ORPHA:666
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia	ORPHA:2158
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis	OMIM:245349
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis, Intrauterine growth retardation	OMIM:618776
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate, Lacticaciduria, Hyperglycinemia	OMIM:619063
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Precocious puberty, Obesity, Periodontitis, Type I diabetes mellitus, Moderate albumi...	OMIM:619269
Combined Oxidative Phosphorylation Deficiency 8	Lactic acidosis, Increased serum lactate, Metabolic acidosis, Neonatal death	OMIM:614096
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Cerebral edema, Lactic acidos...	OMIM:611126
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria	ORPHA:414
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Yellow Fever	Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase conc...	ORPHA:99829
Congenital Analbuminemia	Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hype...	ORPHA:86816
Fumarase Deficiency	Increased urine succinate level, Bilateral fetal pyelectasis, Decreased fumarate hydratase activi...	OMIM:606812
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Aminoaciduria, Diabetes mellitus, Arrhythmia	OMIM:249270
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Edema, Increased serum lactate, Lactic acidosis, Neonatal death	OMIM:610498
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Hypochromic microcytic anemia...	ORPHA:440713
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis	OMIM:613735
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Maturity-Onset Diabetes Of The Young, Type 13	Reduced C-peptide level, Abnormality of body mass index, Elevated hemoglobin A1c	OMIM:616329
Isolated Atp Synthase Deficiency	Short stature, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hy...	ORPHA:254913
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Hypertension,...	OMIM:606721
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated lactate:pyruvate ratio, Elevated hepatic transaminase, Hypoglycemia, I...	OMIM:124000
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate	OMIM:251950
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne...	OMIM:301006
Ménétrier Disease	Hypoproteinemia, Peripheral edema, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ...	ORPHA:79404
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615595
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Postnatal growth retardation, Elevated amniotic fluid alpha-fet...	ORPHA:96179
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Tricus...	OMIM:619534
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Cystic Fibrosis	Recurrent pneumonia, Hypercalciuria, Bronchiectasis, Failure to thrive, Chronic sinusitis, Pancre...	OMIM:219700
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Lactic acidosis, Hypoalbuminemia, In...	ORPHA:99826
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, ...	ORPHA:2323
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, H...	OMIM:613159
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Congenital hypopar...	ORPHA:93324
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Lactic acidosis, Micropenis, Hypospadias, Hydrops fetalis	OMIM:618815
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Hypokalemic alkalosis, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyperalaninemia, In...	OMIM:619051
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Short stature, Edema, Minimal change glomerulonephritis...	OMIM:618348
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit...	ORPHA:79324
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Short stature, ...	ORPHA:261265
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating creatine kinase concen...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Increased serum lactate, Lactic acidosis, 3-Methylgl...	OMIM:618329
Joubert Syndrome 37	Micropenis, Hydronephrosis, Joint hypermobility, Obesity	OMIM:619185
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate	OMIM:614458
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ...	ORPHA:71273
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Systolic heart murmur, Renal ...	OMIM:617478
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Nephrotic syndro...	OMIM:609049
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Hydronephrosis	OMIM:607598
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypogonadism, Arrhythmia	OMIM:273400
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Hemochromatosis, Neonatal	Hypoglycemia, Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Increased ...	OMIM:231100
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Obesity, Nephronophthisis	OMIM:615630
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia	ORPHA:2089
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Pulmonic ...	OMIM:220210
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Sple...	OMIM:263200
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Beckwith-Wiedemann Syndrome	Adrenocortical cytomegaly, Adrenocortical carcinoma, Nephrolithiasis, Renal cortical cysts, Nephr...	OMIM:130650
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Extramedullary hematopoiesis, Ab...	ORPHA:79303
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Adrenal hypoplasia, Epiphyseal stippling, Aminoaciduria, Albuminuria, Elevated circu...	OMIM:214100
Melnick-Needles Syndrome	Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hyperflexibilit...	ORPHA:2484
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi...	OMIM:620358
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Metabolic acidosis	OMIM:618225
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epiphyseal stippling, Stippled calcific...	OMIM:302960
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Failure to thrive	OMIM:250620
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Elevated circulating creatine...	OMIM:500009
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, Increased serum...	OMIM:251900
Glutathione Synthetase Deficiency	Hemolytic anemia, Chronic metabolic acidosis, Reduced glutathione synthetase level	ORPHA:32
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:54251
Dengue Fever	Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Increased serum lactate...	OMIM:255125
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia	OMIM:617661
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia	ORPHA:537
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione...	OMIM:252150
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Intrauterine growth...	OMIM:610678
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema...	ORPHA:79403
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria, Sagittal craniosynostosis	OMIM:616901
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
22Q11.2 Duplication Syndrome	Urethral stenosis, Compulsive behaviors, Attention deficit hyperactivity disorder, Displacement o...	ORPHA:1727
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Vasculitis, Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Postnatal growth re...	ORPHA:391417
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic a...	ORPHA:514
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Growth delay	ORPHA:1764
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm...	OMIM:603471
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Pseudo-Torch Syndrome 3	Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Acute kidney injury, Con...	OMIM:618886
Coach Syndrome 1	Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr...	OMIM:216360
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Lactic acidosis, Metabolic acidosis	ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 14	Increased serum lactate, Thrombocytopenia, Lactic acidosis, Growth delay, Aminoaciduria, Elevated...	OMIM:614946
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Nephrolithiasis, Proximal/middle symphalangism of 5th finger, Nep...	OMIM:268310
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage	OMIM:603585
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab...	ORPHA:97278
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Skin rash, Hypercalcemia, Elevated circulating gr...	ORPHA:97280
Symptomatic Form Of Hfe-Related Hemochromatosis	Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Increased serum lactate, Lactic acidosis, Gr...	OMIM:613561
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Recurrent pneumonia, Failure to...	OMIM:609465
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Small intestine c...	ORPHA:100078
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Vasculitis, ...	ORPHA:397
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, I...	ORPHA:60025
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Lactic acidosis, Aminoaciduria, Failure to thrive	OMIM:614520
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis	OMIM:203740
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97283
Leigh Syndrome	Lactic acidosis, Complex organic aciduria, Neutropenia, Renal tubular dysfunction, Nephrotic synd...	ORPHA:506
Occipital Horn Syndrome	Joint laxity, Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreas...	OMIM:304150
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Focal Myositis	Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh...	ORPHA:48918
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Increased serum lactate, Lactic acidosis, ...	ORPHA:70472
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased serum lactate, Increased ...	OMIM:600462
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentration, Elevated c...	OMIM:608779
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Cranial hyperostos...	ORPHA:330015
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentrati...	ORPHA:90068
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Zttk Syndrome	Aortic regurgitation, Polyuria, Unilateral renal agenesis, Craniosynostosis, Flexion contracture,...	OMIM:617140
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Elevated hemoglobin A1c	OMIM:619278
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn...	ORPHA:101330
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic synd...	OMIM:611209
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne...	ORPHA:97261
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Enuresis, Self-injurious behavio...	ORPHA:293987
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Increased serum lactate, Metabolic acidosis, Patent urachus	OMIM:618252
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Timothy Syndrome	Prolonged QT interval, Pneumonia, Ventricular tachycardia, Atrioventricular block, Hypocalcemia, ...	OMIM:601005
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Felty Syndrome	Episcleritis, Recurrent urinary tract infections, Sinusitis, Pericarditis, Recurrent pneumonia, L...	ORPHA:47612
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Hydronephrosis, Joint hyperm...	OMIM:618494
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Jaundice, Hypoproteinemia	OMIM:608093
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub...	ORPHA:431361
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Small for gestational age, Recurrent pneumonia, Hypocalcemia, Micropenis, Failure to...	OMIM:607143
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Distal Triplication 15Q	Abnormality of the kidney, Craniosynostosis, Large for gestational age, Flexion contracture, Dila...	ORPHA:314588
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormalit...	ORPHA:2552
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Limitation of joint mobili...	ORPHA:261494
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Thyroid lymphangiectasia, Horseshoe kidney, Hypoalbuminemia, Camptodactyly, Vesic...	OMIM:235510
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Hypotension, Infectious encephalitis	ORPHA:83317
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lactic acidosis, Increased serum lactate, Metabolic acidosis, Severe lactic acidosis	OMIM:618228
Dermotrichic Syndrome	Aminoaciduria	ORPHA:99688
Diabetes Mellitus, Transient Neonatal, 3	Reduced C-peptide level, Elevated hemoglobin A1c	OMIM:610582
Odontochondrodysplasia 1	Osteoporosis, Delayed ossification of carpal bones, Polycystic kidney dysplasia, Nephronophthisis...	OMIM:184260
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hypoglycemia, Renal tubular acidosis, Transient hyperlipidemia, He...	ORPHA:156
Arthrogryposis Multiplex Congenita 5	Cardiac arrest, Flexion contracture, Elbow flexion contracture, Camptodactyly, Arthrogryposis mul...	OMIM:618947
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Growth delay, 3-Methylglut...	OMIM:614052
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Short stature, Proximal renal tubular acidosis	OMIM:179830
Suleiman-El-Hattab Syndrome	Failure to thrive, Hydronephrosis	OMIM:618950
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	ORPHA:480864
Trisomy 8P	Multiple joint contractures, Fetal pyelectasis, Heart murmur, Nephrocalcinosis, Micropenis, Hydro...	ORPHA:264450
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis, Intrauterine growth retardation, Postnatal growth retardation	OMIM:615440
Axial Mesodermal Dysplasia Spectrum	Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Re...	ORPHA:1834
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Cystic Echinococcosis	Bone cyst, Renal cyst, Weight loss, Membranous nephropathy, Hyperbilirubinemia	ORPHA:400
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Monosomy 22Q13.3	Recurrent skin infections, Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephrit...	ORPHA:48652
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Pediatric-Onset Graves Disease	Hyperactivity, Polydipsia, Polyphagia	ORPHA:525731
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis, Intrauterine growth retardation	OMIM:618243
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Flexion contracture, Polycystic kidney dy...	ORPHA:261290
Mesomelia-Synostoses Syndrome	Joint stiffness, Metatarsal synostosis, Synostosis of joints, Hydronephrosis, Synostosis of carpa...	ORPHA:2496
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Heart block, Cardiomyopathy, Joint hyperflexibility, Mucopolysacch...	ORPHA:175
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Increased serum lactate, Abnormal circulating pyruvate family amino acid concent...	ORPHA:255182
Aredyld Syndrome	Craniofacial hyperostosis, Cachexia, Abnormality of the ureter, Type II diabetes mellitus, Type I...	ORPHA:1133
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplas...	OMIM:214110
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Triokinase And Fmn Cyclase Deficiency Syndrome	Lactic acidosis, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Mi...	OMIM:618805
Encephalopathy, Ethylmalonic	Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Ethylmalonic aciduria	OMIM:602473
Mitochondrial Complex I Deficiency, Nuclear Type 11	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:618234
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia	OMIM:615501
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Short stature, Lymphedema	OMIM:247410
Kearns-Sayre Syndrome	Sideroblastic anemia, Diabetes mellitus, Short stature, Lactic acidosis, Renal tubular acidosis, ...	OMIM:530000
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Lactic acidosis, Abnormal renal corticomedullary differentiation, ...	OMIM:617397
Galactokinase Deficiency	Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperinsulinemia, Hepatosple...	ORPHA:79237
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Craniosynostosis	ORPHA:531151
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Primary adrenal insufficiency, Epiphyseal stippling, F...	ORPHA:912
Igg4-Related Pachymeningitis	Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr...	ORPHA:449427
Celiac Disease, Susceptibility To, 1	Stomatitis, Eczema, Osteoporosis, Rickets, Thyroiditis, Weight loss, Hypocalcemia, Recurrent apht...	OMIM:212750
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Horseshoe ki...	ORPHA:391641
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Neonatal epiphyseal stippling, Flexion contracture, Anterior rib p...	ORPHA:35173
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He...	ORPHA:73263
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski...	ORPHA:33001
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine kinase concentration, E...	ORPHA:454836
Diabetic Embryopathy	Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:1926
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration...	OMIM:610505
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Interstitial Lung And Liver Disease	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615486
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Micropenis, Slender build, Hydronephrosis	ORPHA:364028
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lactic acidosis, Increased serum lactate, Metabolic acidosis, Growth delay	OMIM:618226
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate	OMIM:617668
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Short stature, Increased serum lactate, Lactic acidosis, Hyperglycinemia, Hyperalaninemia	OMIM:619059
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Hydronephrosis	ORPHA:488613
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acido...	OMIM:615471
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney, Camptodactyly	OMIM:614846
Carpenter Syndrome 1	Hydroureter, Sagittal craniosynostosis, Precocious puberty, Obesity, Lambdoidal craniosynostosis,...	OMIM:201000
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Increased serum lactate, Hypochromic microcyt...	ORPHA:66634
Insulin Autoimmune Syndrome	Weight loss, Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Hyperinsulinemic hypoglyc...	ORPHA:411593
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, Reduced bone mineral density	ORPHA:3079
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Increased urinary glycerol, Hypoglycemia	OMIM:229700
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Tricuspid regurgitation, Hypophosphaturia, Mitral regurgitation, Hypoca...	ORPHA:73223
Adenohypophysitis	Hyponatremia, Normochromic anemia, Hyposthenuria	ORPHA:95512
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Recurrent urinary tract infections, Small for gestational age, Portal h...	OMIM:613658
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Weight loss, Hematuria, Stomatitis	ORPHA:520
Trisomy 13	Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis	ORPHA:3378
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Hypospadias, Joint hyperflexibility, Vesicoureteral reflu...	ORPHA:96169
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c...	OMIM:617730
Combined Oxidative Phosphorylation Deficiency 31	Lactic acidosis, Hyperalaninemia, Increased serum lactate	OMIM:617228
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema...	ORPHA:1018
Sotos Syndrome	Joint laxity, Ureteral duplication, Renal insufficiency, Hip contracture, Hypospadias, Hypercalce...	ORPHA:821
Lassa Fever	Shock, Conjunctivitis, Oliguria	ORPHA:99824
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Floating-Harbor Syndrome	Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Dilatation of the re...	ORPHA:2044
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Increased serum lactate, Horseshoe kidney	OMIM:617664
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis, Anemia, Delayed puberty	ORPHA:2598
Noonan Syndrome 4	Ureteral duplication, Large for gestational age, Pulmonic stenosis, Hypertrophic cardiomyopathy, ...	OMIM:610733
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Knee flexion contracture, Nephrocalc...	OMIM:617402
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Po...	OMIM:617156
Kury-Isidor Syndrome	Recurrent otitis media, Hydronephrosis	OMIM:619762
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss, Type I...	ORPHA:1979
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci...	OMIM:262190
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Thrombocytopenia, Disproportionate short-trunk sh...	OMIM:242900
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Increased urinary glycerol, Small for gestationa...	OMIM:307030
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Hypospadias, Heart murmur, Intracranial hemorrhage, Hypo...	ORPHA:163979
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis, Cerebral edema	ORPHA:83601
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Hyperalaninemia, Increased serum lactate	OMIM:618378
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Intrauterine growth retardation	OMIM:614654
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u...	OMIM:252160
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Pulmonary edema, Proteinuria, Decreased mean cor...	ORPHA:244242
Combined Oxidative Phosphorylation Deficiency 23	Lactic acidosis, Intrauterine growth retardation, Increased serum lactate	OMIM:616198
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,...	ORPHA:99147
Fabry Disease	Renal insufficiency, Proteinuria, Lymphedema, Urinary mulberry cells, Anemia, Delayed puberty, Li...	OMIM:301500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F...	OMIM:619503
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Increased circulating ferritin...	OMIM:615846
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Weigh...	ORPHA:764
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Joubert Syndrome 6	Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Frontometaphyseal Dysplasia 1	Hydroureter, Interphalangeal joint contracture of finger, Craniosynostosis, Limited elbow movemen...	OMIM:305620
Alkaptonuria	Myocardial infarction, Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral den...	ORPHA:56
Methanol Poisoning	Metabolic acidosis, Hyperlipidemia, Type II diabetes mellitus, Type I diabetes mellitus	ORPHA:31825
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Hypoplasia of the bladder, Hydroureter, Small for gestational age, Craniosynostosis...	OMIM:300707
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sagittal craniosynostosis...	ORPHA:79500
Sheehan Syndrome	Hyponatremia, Normochromic anemia, Hyposthenuria, Hypoglycemia	ORPHA:91355
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Pericardial effusion, Splenomegaly, Angioedema,...	ORPHA:36412
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal...	ORPHA:1578
Raine Syndrome	Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Arth...	OMIM:259775
Imerslund-Gräsbeck Syndrome	Tachycardia, Proteinuria, Angular cheilitis, Weight loss, Failure to thrive	ORPHA:35858
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Short stature, Pancytopenia, Renal hypoplasia, Renal dy...	ORPHA:85321
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Recurrent pneumonia, Hydronephrosis	OMIM:619179
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, 2-ethylhydracylic aciduria	OMIM:610006
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia, Hepatic failure	OMIM:618567
Tuberculosis	Weight loss	ORPHA:3389
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Bardet-Biedl Syndrome 12	Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis	OMIM:615989
Lamellar Ichthyosis	Renal insufficiency, Short stature, Dehydration	ORPHA:313
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Skin rash, Small for gestational age, Cystathioninuria, Methylmalonic aci...	OMIM:277380
Trisomy 20P	Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of the ureter, Abnor...	ORPHA:261318
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis, Acidosis	OMIM:618235
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Glu...	OMIM:616539
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Polyhydramnios, Tubular luminal dilatation, Renal corticomedullary cysts, Hy...	OMIM:219730
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Elevated gamma-glutamyltransferase level, ...	OMIM:619573
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia	OMIM:615917
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Weight loss, Salmonella osteomyelitis, Hypoalbuminemia	OMIM:209950
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Splenomegaly, Hematuria	ORPHA:91138
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Micro Syndrome	Hypoplasia of penis, Joint stiffness, Abnormal localization of kidney, Delayed puberty, Hydroneph...	ORPHA:2510
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Hypoglycemia, Lactic acidosis, Proximal tubulopathy,...	ORPHA:2609
3C Syndrome	Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Pulmonic stenosis, Aortic valve stenosis, H...	ORPHA:7
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis, Intrauterine growth retardation	OMIM:618246
Boutonneuse Fever	Elevated hepatic transaminase, Leukopenia, Renal insufficiency, Thrombocytopenia	ORPHA:83313
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Polyhydramnios, Urethral atresia, Neonatal death, Hydronephrosis, Enlarged kidney	OMIM:314390
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Craniosynostosis, Generalized joint laxity, Functional abnormality of ...	ORPHA:2953
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Abn...	ORPHA:3027
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Int...	ORPHA:420741
Koolen-De Vries Syndrome	Vertebral fusion, Recurrent urinary tract infections, Small for gestational age, Eczema, Pulmonic...	OMIM:610443
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter	OMIM:188580
Pfeiffer Syndrome Type 3	Tracheomalacia, Limitation of joint mobility, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	ORPHA:93260
Renpenning Syndrome	Diabetes mellitus, Hypospadias, Cachexia, Joint stiffness	ORPHA:3242
15Q Overgrowth Syndrome	Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Ure...	ORPHA:314585
Trisomy 1Q	Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Serotonin Syndrome	Tachycardia, Lactic acidosis, Hypertension, Hypotension, Acute kidney injury	ORPHA:43116
Chromosome 2P16.1-P15 Deletion Syndrome	Hypogonadism, Camptodactyly, Micropenis, Joint contracture of the hand, Hydronephrosis	OMIM:612513
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Vasculitis, Hepatit...	ORPHA:781
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Vesicoureteral reflu...	OMIM:618460
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Primary Sclerosing Cholangitis	Osteopenia, Renal insufficiency, Spider hemangioma, Portal hypertension, Congestive heart failure...	ORPHA:171
Au-Kline Syndrome	Craniosynostosis, Sagittal craniosynostosis, Chronic kidney disease, Dilatation of the renal pelv...	OMIM:616580
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis, Oligohydramnios	OMIM:619431
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Reduced level of N-acetylgl...	OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, El...	OMIM:617049
Zaki Syndrome	Renal agenesis, Hydronephrosis	OMIM:619648
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Craniosynostosis	ORPHA:457193
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Camptodactyly of finger, Mitral regurgitation...	ORPHA:261349
Takayasu Arteritis	Increased inflammatory response, Myocardial infarction, Vasculitis, Weight loss, Arthritis, Hyper...	ORPHA:3287
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Elevated hepatic transaminase, Macrocytic anemia, Lactic acidosis, Anemia	OMIM:615438
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synostosis, Reduced bone m...	ORPHA:2750
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Abnormal circulating creatine concentration, Pituita...	ORPHA:440437
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, P...	ORPHA:79128
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis, Insulin resistance, Dehydration	OMIM:214150
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Polyhydramnios, Asplenia, Hydrops fetalis, Horseshoe kidney...	ORPHA:99776
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu...	ORPHA:746
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Failure to thriv...	ORPHA:83471
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Polyhydramnios, E...	ORPHA:887
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Hypocalcemia	OMIM:300712
Beta-Ureidopropionase Deficiency	Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst...	OMIM:613161
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Abnormal bladder morphology, Vesicoureteral reflux, Failure to thri...	ORPHA:453499
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor...	OMIM:615838
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Adrenal hypoplasia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole...	OMIM:308050
Tarp Syndrome	Horseshoe kidney, Neonatal death, Intrauterine growth retardation, Hepatic failure, Hydronephrosi...	OMIM:311900
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, ...	OMIM:603903
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Short stature, Minimal change glomerulonephritis, Thrombocytopenia, Hyp...	ORPHA:1830
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Floating-Harbor Syndrome	Joint laxity, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Glandular hypospa...	OMIM:136140
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis, Short stature	OMIM:619065
Baller-Gerold Syndrome	Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou...	ORPHA:1225
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis	ORPHA:1054
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Knee flexion contracture, Multiple renal cyst...	OMIM:618733
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Osteopetrosis	OMIM:618541
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Hydronephrosis	OMIM:620327
Severe Acute Respiratory Syndrome	Diabetes mellitus, Acute kidney injury	ORPHA:140896
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gestational age, Hydr...	OMIM:614080
Fatal Familial Insomnia	Urinary retention, Weight loss	OMIM:600072
Mosaic Trisomy 8	Camptodactyly of finger, Limitation of joint mobility, Vesicoureteral reflux, Arthrogryposis mult...	ORPHA:96061
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature	ORPHA:1307
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Renal insufficiency, Splenomegaly, Jaundice, Decreased liver funct...	OMIM:251290
Argininemia	Diaminoaciduria, Oroticaciduria, Hyperargininemia, Hyperammonemia	OMIM:207800
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma	OMIM:194072
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Elevated circulating creatine kinase concentration, Pericardial effusion, Stress/infection-induce...	OMIM:618775
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis	OMIM:619012
Pancreatic insufficiency, combined exocrine	Anasarca, Hypoproteinemia	OMIM:260450
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis	OMIM:616449
Otopalatodigital Syndrome Type 2	Carpal synostosis, Increased bone mineral density, Hypospadias, Tarsal synostosis, Camptodactyly ...	ORPHA:90652
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
3-Hydroxyisobutyric Aciduria	Lactic acidosis, Intrauterine growth retardation	ORPHA:939
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Polycystic kidney dysplasia	OMIM:173900
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Sagittal craniosynostosis, Tubulointerstitial nephritis, Enuresis, Cam...	ORPHA:459061
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria, Joint hypermobility	ORPHA:101000
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebrae, ...	OMIM:607323
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Failure to thrive, Flexion contracture of finger, Hypospadias, Small for ge...	ORPHA:464311
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn...	ORPHA:117
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Joint stiffness, Vasculitis, Weight loss, ...	OMIM:180300
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef...	ORPHA:99827
Paganini-Miozzo Syndrome	Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased serum lactate, Urinary incontinence	OMIM:301025
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Portal hypertension, Asplenia, Splenomegaly, Stage 5 chronic kidney disease,...	OMIM:208540
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Failure to thrive...	ORPHA:3426
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis, Hypoglycemia	OMIM:618241
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Joint hyperflexibility, Failure to thrive, Hydronephrosis	ORPHA:250989
Pyridoxine-Dependent Epilepsy	Lactic acidosis, Hypoglycemia	ORPHA:3006
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Visceral Myopathy 1	Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis	OMIM:155310
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ...	ORPHA:99867
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:568
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Joint stiffness, ...	ORPHA:2995
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis	OMIM:618236
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Pericarditis, Skin rash, Elevated circulating creatine...	ORPHA:93672
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Horseshoe kidney, Hypocalcemia, Erysip...	ORPHA:2136
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Radioulnar synostosis, A...	ORPHA:85201
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration ...	ORPHA:17
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis, Dehydration	OMIM:610370
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Ethylmalonic Encephalopathy	Lactic acidosis, Ethylmalonic aciduria	ORPHA:51188
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Short stature, Nephrotic syndrome,...	OMIM:251300
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Hypospadias, Hypoglycemia, Splen...	OMIM:252010
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Brucellosis	Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Infectious encephalit...	ORPHA:1304
Microphthalmia, Syndromic 9	Renal malrotation, Severe short stature, Short stature, Renal hypoplasia, Horseshoe kidney, Multi...	OMIM:601186
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Craniosynostosis, Camptodactyly of finger, Horseshoe k...	DECIPHER:81
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr...	ORPHA:254864
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Heart murmur, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla...	ORPHA:280633
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Lymphedema, Increased mean platelet volume, Webbed neck, ...	OMIM:616737
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyp...	ORPHA:293978
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Congenital Myopathy 17	Failure to thrive in infancy, Renal hypoplasia, Distal arthrogryposis, Ureteropelvic junction obs...	OMIM:618975
Cranioectodermal Dysplasia 3	Joint laxity, Stage 5 chronic kidney disease, Sagittal craniosynostosis, Nephronophthisis	OMIM:614099
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Chronic otitis media, Hypothyroidi...	ORPHA:567
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Pulmonic stenosis, Vesicoureteral reflux, Hydronephrosis	OMIM:115470
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis, Intrauterine growth retardation	OMIM:618238
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Short stature, Edema, Stage 5 chronic kidney disease, N...	OMIM:617729
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Failure to thrive, Multiple joint contractures, Hypospadias, Anterior pitui...	ORPHA:464306
Pallister-Hall Syndrome	Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased...	OMIM:146510
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease	ORPHA:280062
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Congestive heart failure, Flexion contracture, Limitation of joint mobility, Joint hype...	ORPHA:157973
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature	ORPHA:2715
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Caroli Disease	Cholangitis, Portal hypertension, Conjugated hyperbilirubinemia, Weight loss, Polycystic kidney d...	ORPHA:53035
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Lactic acid...	ORPHA:298
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Abnormality of t...	ORPHA:2162
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Acne, Decreased circulating parathyro...	OMIM:188400
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Tarsal synostosis, Renal hypoplasia/aplasia, Gl...	ORPHA:2473
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Contractures of the large joints, Abnormality of the urinary system, Micropen...	ORPHA:96092
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Weig...	ORPHA:2070
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology,...	ORPHA:288
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Atopic dermatitis, Pulmonic stenosis, Hypert...	OMIM:115150
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Mitral regurgitation, Pann...	OMIM:612541
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Tracheomalacia, Tracheobronchomalacia, H...	ORPHA:140
Succinic Acidemia	Lactic acidosis	OMIM:600335
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Increased serum lactate, Lactic acidosis, Intrauterine growth retardation, Thromboc...	OMIM:617710
Acute Peripheral Arterial Occlusion	Leukocytosis, Acidosis	ORPHA:90064
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Pituitary Apoplexy	Hyponatremia, Normochromic anemia, Hypoglycemia	ORPHA:95613
Alveolar Echinococcosis	Cholangitis, Portal hypertension, Bone cyst, Renal cyst, Weight loss, Budd-Chiari syndrome, Abnor...	ORPHA:284
Joubert Syndrome 5	Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ...	OMIM:610188
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Flexion contracture, Camptodactyly, Flexion contracture of finger, Wrist flexion co...	ORPHA:254528
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Jaundice, Hyperkalemia, Hypoglycemia	ORPHA:90790
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hy...	OMIM:301040
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest...	OMIM:275000
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Flexion contract...	ORPHA:90324
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Joint stiffness	ORPHA:702
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penoscrotal hypospadias, Hypospadia...	OMIM:270400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Short stature, Elevated circulating aspartate aminotransferase concentrati...	OMIM:256810
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Hydronephrosis, Joint hypermobility	OMIM:617798
Infant Botulism	Hyponatremia, Xerostomia	ORPHA:178478
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Facial edema, Leu...	ORPHA:293173
Erythrokeratodermia Variabilis	Diabetes mellitus, Skin rash, Weight loss	ORPHA:317
Mitochondrial Complex I Deficiency, Nuclear Type 37	Lactic acidosis, Increased serum lactate, Hypospadias, Growth delay	OMIM:619272
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Lactic acidosis, Diabetes mellitus	OMIM:540000
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Craniosynostosis, ...	ORPHA:1826
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Hypertension, Renal hypoplasia, Absence of renal corticomedullary differe...	OMIM:619758
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pulmonary arterial hypertensio...	OMIM:618454
Teebi-Shaltout Syndrome	Ureteral stenosis, Horseshoe kidney, Camptodactyly, Aortic valve stenosis, Hydronephrosis	OMIM:272950
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentration, Right vent...	ORPHA:97287
Distal Deletion 12Q	Late onset atopic dermatitis, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset dia...	ORPHA:96149
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Joint stiffne...	ORPHA:847
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Rhizomelia	OMIM:618821
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis	OMIM:618230
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Joint laxity, Abnormality of thyroid physiology, Hydronephrosis	OMIM:300968
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Abnormal T-wave, Ureteropelvic junction obstruction, Failure to thrive, H...	ORPHA:444072
Amish Lethal Microcephaly	Metabolic acidosis, Organic aciduria	ORPHA:99742
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Lactic acidosis, Ketonuria, Lacticaciduria, Neonatal death	OMIM:619167
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Lymphedema, Hyperlipidemia, Hema...	ORPHA:324
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Enteric Anendocrinosis	Portal hypertension, Hyperchloremic metabolic acidosis, Dehydration, Type I diabetes mellitus	ORPHA:83620
Melas	Diabetes mellitus, Proteinuria, Short stature, Increased serum lactate, Lactic acidosis, Focal se...	ORPHA:550
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Decreased serum iron, Abnormality of the endocrine system, Precocious p...	ORPHA:438213
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Failure to thrive, Cholangitis, Craniosynostosis, Stage 5 chron...	OMIM:266920
Penile Agenesis	Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl...	ORPHA:49
Leishmaniasis	Rhinitis, Hypoalbuminemia, Weight loss	ORPHA:507
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig...	ORPHA:679
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Secondary Short Bowel Syndrome	Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Central hypothyroidism, W...	ORPHA:95427
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Hydronephrosis	ORPHA:2839
Hyperphosphatasia-Intellectual Disability Syndrome	Growth delay, Elevated circulating alkaline phosphatase concentration, Hydronephrosis, Oligohydra...	ORPHA:247262
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis	ORPHA:1369
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Craniosynostosis, Tracheomalacia, Obesity, Enuresis, Chro...	ORPHA:96121
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis	OMIM:618229
Apert Syndrome	Acne, Craniosynostosis, Sagittal craniosynostosis, Limited elbow movement, Delayed epiphyseal oss...	OMIM:101200
Degcags Syndrome	Osteopenia, Recurrent urinary tract infections, Tachycardia, Hypospadias, Pneumonia, Craniosynost...	OMIM:619488
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactat...	OMIM:252011
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret...	ORPHA:363958
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
White-Kernohan Syndrome	Joint laxity, Hydroureter, Obesity, Horseshoe kidney, Recurrent otitis media, Hypothyroidism, Hyd...	OMIM:619426
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney dis...	OMIM:608612
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Elevated circulating hexacosanoic acid...	OMIM:614388
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Reticular Dysgenesis	Skin rash, Weight loss, Chronic otitis media, Failure to thrive, Aplasia/Hypoplasia of the thymus	ORPHA:33355
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Telangiectasia of the skin, Camptodactyly of finger, Renal hypoplas...	ORPHA:2092
Pde4D Haploinsufficiency Syndrome	Joint laxity, Hypospadias, Obesity, Elevated circulating parathyroid hormone level, Hypotension	ORPHA:439822
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Elevated circulat...	ORPHA:800
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Adrenal hypoplasia, Recurrent pneumonia, Hypoplasia of the thymus, Mult...	OMIM:613177
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis	OMIM:615119
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Metabolic acidosis, Lactic acidosis	OMIM:616501
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Pulmonary arterial hypertension,...	ORPHA:464738
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Obesity, Hypotension	ORPHA:369873
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Reactive Arthritis	Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Joint stif...	ORPHA:29207
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Metabolic acidosis	ORPHA:88639
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Waldenström Macroglobulinemia	Normocytic anemia, Renal insufficiency, Abnormality of neutrophils, Periorbital edema, Splenomega...	ORPHA:33226
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ker...	ORPHA:1896
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Distal arthrogryposis, Hydronephrosis, Finger joint hypermobi...	OMIM:617557
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, 3-Methylglutaconic aciduria, Gra...	OMIM:302060
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration, Acute...	ORPHA:36238
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease	OMIM:613819
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Portal hyperten...	ORPHA:1454
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, Heart murmur, We...	ORPHA:100085
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
Systemic Sclerosis	Renal insufficiency, Proteinuria, Elevated circulating creatine kinase concentration, Abnormality...	ORPHA:90291
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Osteoporosis, Osteolys...	ORPHA:98850
Japanese Encephalitis	Hyponatremia, Neutrophilia, Cerebral edema, Pulmonary edema	ORPHA:79139
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Opitz Gbbb Syndrome	Hypospadias, Craniosynostosis, Tracheomalacia, Abnormality of the urinary system, Vesicoureteral ...	ORPHA:2745
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:604377
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Congenital hypothyroidism, Ureteropelvic junction obstruction, Failure to thr...	OMIM:616973
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Rabin-Pappas Syndrome	Hyponatremia	OMIM:620155
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Upper-limb joint contracture, Urinary incontinence, Cachexia	ORPHA:300605
Melnick-Needles Syndrome	Ureteral stenosis, Osteolytic defects of the phalanges of the hand, Recurrent otitis media, Pulmo...	OMIM:309350
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hydronephrosis	ORPHA:1780
Cockayne Syndrome	Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, Unilateral rena...	ORPHA:191
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:2198
Biotinidase Deficiency	Metabolic ketoacidosis, Splenomegaly, Hyperammonemia, Organic aciduria, Decreased circulating bio...	OMIM:253260
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Hydronephrosis, Scl...	OMIM:269150
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Igg4-Related Thyroid Disease	Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi...	ORPHA:64744
Adult Acute Respiratory Distress Syndrome	Metabolic acidosis, Diabetic ketoacidosis, Pulmonary edema	ORPHA:70578
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Growth delay...	ORPHA:79408
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Weight loss, Cardiomyopathy	ORPHA:79430
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Short stature, Anemia, Delayed puberty	OMIM:208060
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Failure to thrive in infancy, Hydronephrosis, Pulmonic stenosis	ORPHA:1340
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Decrea...	OMIM:604292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co...	OMIM:615287
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism	ORPHA:93256
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Hydroureter, Osteomalacia, Abnormality of the kidney, ...	ORPHA:2636
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Type I diabetes mellitus, Insulin-resistant diabetes mellitus, Renal insufficiency, Short stature	OMIM:226980
Alg9-Cdg	Hypoplasia of the bladder, Tricuspid regurgitation, Ureteral hypoplasia, Hypoplasia of the ovary,...	ORPHA:79328
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Refsum Disease	Splenomegaly, Renal insufficiency	ORPHA:773
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Lymphedema, Postnatal growth retardation, Increased mean ...	ORPHA:487796
Sifrim-Hitz-Weiss Syndrome	Vesicoureteral reflux, Renal insufficiency, Micropenis, Short stature	OMIM:617159
3Mc Syndrome 1	Conjunctival telangiectasia, Radioulnar synostosis, Lambdoidal craniosynostosis, Coronal craniosy...	OMIM:257920
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Short stature, Chordee, Micropenis	OMIM:300519
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Cousin Syndrome	Humeroradial synostosis, Camptodactyly, Joint contracture of the hand, Wrist flexion contracture,...	OMIM:260660
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Recurrent skin infections, Generaliz...	OMIM:601776
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of the ...	ORPHA:798
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Silver-Russell Syndrome	Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Abnormality of ...	ORPHA:813
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Aortic valve stenosis, Hydronephrosis	ORPHA:210122
Trisomy 18	Cachexia, Camptodactyly of finger, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h...	OMIM:118450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Lambdoidal craniosynostosi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Lambdoidal craniosynostosi...	ORPHA:352665
Riboflavin Transporter Deficiency	Hypertension, Cachexia, Hypogonadism, Diabetes insipidus	ORPHA:97229
Holoprosencephaly 3	Central diabetes insipidus, Hydronephrosis	OMIM:142945
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Pulmonary arterial hypertens...	ORPHA:667
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Short stature, Autoimmune thrombocytopeni...	ORPHA:1855
Lactic Acidosis, Chronic Adult Form	Hyperuricemia, Chronic lactic acidosis	OMIM:150170
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension, ...	ORPHA:292
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insuffici...	ORPHA:2047
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Hematuria, Nephrotic syndrome	OMIM:161200
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, ...	OMIM:251260
Congenital Short Bowel Syndrome	Metabolic acidosis, Dehydration	OMIM:615237
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Weight loss, Melena, Palpitations, Increased ...	ORPHA:100080
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Abnormal circulating enzyme concentration or activity,...	ORPHA:25
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Short stature, Rhizomelic leg sh...	ORPHA:397715
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Recurrent urinary tract infections, Hypospadias, Pneumonia, Cardiac conduction abno...	ORPHA:353281
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Block vertebrae, Hydronephrosis, Vertebral fusion	OMIM:271520
Kleefstra Syndrome Due To 9Q34 Microdeletion	Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Growth delay	ORPHA:96147
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:614924
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Eczema, Craniosynostosis, Joint hyperflexibility, Hydronephrosis	ORPHA:235
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Increased serum lactate, Hyperalaninemia, Severe lactic acidosis, Elevated circulating creatine k...	OMIM:615418
Chronic Hiccup	Weight loss	ORPHA:396
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:90003
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal in...	ORPHA:227990
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete...	ORPHA:140952
Stromme Syndrome	Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral ref...	ORPHA:3455
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Small for gestational age, Micropenis, Pu...	ORPHA:97360
8P23.1 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Hypospadias, Obesity, Weight loss	ORPHA:251071
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hyperactivity	OMIM:620047
Tarp Syndrome	Failure to thrive, Hydronephrosis, Horseshoe kidney	ORPHA:2886
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H...	ORPHA:373
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Joint stiffness	ORPHA:1216
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Hypogonadotropic hypogonadism, Decrea...	OMIM:129900
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Ir...	ORPHA:227982
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis	ORPHA:279914
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com...	ORPHA:209905
Distal Deletion 10Q	Short stature, Postnatal growth retardation, Functional abnormality of the bladder, Horseshoe kid...	ORPHA:96148
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio...	ORPHA:100082
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Radioulnar synostosis, Patent urach...	OMIM:192350
Cornelia De Lange Syndrome 1	Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Abnormal renal morphology, Elbow flexion con...	OMIM:122470
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Stage 5 chronic kid...	OMIM:267010
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lactic acidosis, Hyperglycinemia	OMIM:614299
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Increased serum lac...	ORPHA:572798
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis, Short stature	ORPHA:1170
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Increased serum lactate, Growth delay, Cerebral edema	OMIM:614462
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Weight loss	ORPHA:50251
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Renal insufficiency, Autoimmune hemolytic anemia, Glomerulonephritis, Eosinophil...	ORPHA:3261
Peripheral Primitive Neuroectodermal Tumor	Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Preco...	ORPHA:370348
African Trypanosomiasis	Abnormal EKG, Pericarditis, Renal insufficiency, Urinary incontinence, Abnormality of the endocri...	ORPHA:3385
Camurati-Engelmann Disease	Cachexia, Craniofacial osteosclerosis, Limitation of joint mobility, Cortical thickening of long ...	ORPHA:1328
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas...	ORPHA:84
Johanson-Blizzard Syndrome	Joint laxity, Diabetes mellitus, Hypospadias, Small for gestational age, Increased VLDL cholester...	OMIM:243800
Isaacs Syndrome	Weight loss	ORPHA:84142
Amoebiasis Due To Entamoeba Histolytica	Congestive heart failure, Weight loss, Hypoalbuminemia, Constrictive pericarditis, Acute colitis	ORPHA:67
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Classic Hodgkin Lymphoma	Skin rash, Osteolysis, Weight loss	ORPHA:391
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Camptodactyly of finger, Cachexia, Obesity, Joint hyperflexibility, Hypogona...	ORPHA:85293
Bone Dysplasia, Lethal Holmgren Type	Joint hyperflexibility, Hypertrophic cardiomyopathy, Failure to thrive, Weight loss	ORPHA:1842
Mckusick-Kaufman Syndrome	Hydroureter, Edema, Pedal edema, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia	OMIM:616801
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Telangiectasia of the skin, Keratitis, Te...	ORPHA:910
Kanzaki Disease	Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ...	OMIM:609242
Chime Syndrome	Hydronephrosis, Osteolysis, Abnormality of the kidney	ORPHA:3474
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Bronchiectasis, Weight loss	ORPHA:1164
Pfapa Syndrome	Arthritis, Infectious encephalitis, Weight loss	ORPHA:42642
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Urethral d...	OMIM:212093
Leigh Syndrome	Lactic acidosis, Increased serum lactate	OMIM:256000
19Q13.11 Microdeletion Syndrome	Failure to thrive, Hypospadias, Cachexia	ORPHA:217346
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Angioedema, Hematuria	ORPHA:761
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Cardiogenic shock, Increased cir...	ORPHA:100075
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Eczema, Recurrent pneumonia, Hypocalcemia, Hydronephrosis	OMIM:620330
Huntington Disease-Like 2	Weight loss	OMIM:606438
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Polyhydramnios, Re...	ORPHA:818
Osteogenesis Imperfecta, Type Vii	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, H...	OMIM:610682
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Postnatal gr...	OMIM:620305
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia, Joint stiffness	ORPHA:1144
Gabriele-De Vries Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Craniosynostosi...	ORPHA:506358
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Renal cyst, Camptod...	OMIM:229850
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Renal insufficiency, Short stature, Rhizomelia, Polyhydramnios, Sp...	OMIM:613610
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Metabolic acidosis, Renal tubular acidosis, Short stature	OMIM:619575
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Cranioectodermal Dysplasia 4	Short stature, Stage 5 chronic kidney disease	OMIM:614378
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Gm1 Gangliosidosis	Camptodactyly of finger, Joint stiffness, Congestive heart failure, Weight loss, Cardiomyopathy, ...	ORPHA:354
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Bronchiectasis, Myocardial infarction	ORPHA:60033
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Contractu...	ORPHA:83617
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Large for gestational age, Camptodactyly, Contracture of the proxim...	OMIM:280000
Charge Syndrome	Hypogonadotropic hypogonadism, Horseshoe kidney, Micropenis, Abnormality of the adrenal glands, A...	ORPHA:138
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub...	OMIM:613254
Microcephaly, Amish Type	Lactic acidosis	OMIM:607196
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Abnormality of the endocrine s...	ORPHA:2905
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Joint laxity, Absent sternal ossification, Hypospadias, Contr...	OMIM:114290
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Joint stiff...	ORPHA:1606
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, S...	ORPHA:457212
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Christianson Syndrome	Joint hyperflexibility, Arthrogryposis multiplex congenita, Cachexia	ORPHA:85278
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis	OMIM:610773
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Renal hypoplasia/aplasia, Bone cyst, Abnormal renal morphology, Mitral regurgitation, ...	ORPHA:363700
Eisenmenger Syndrome	Renal insufficiency, Elevated circulating C-reactive protein concentration, Pedal edema, Hypochro...	ORPHA:97214
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Tarsometatarsal synostosis, Metacarpal synostosis, Hydronephrosis, Pa...	OMIM:600383
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Chronic otitis media,...	ORPHA:1507
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypoglycemia, Increased serum lactate, Hyperammonemia, Lactic acidosis, S...	OMIM:220111
Mulibrey Nanism	Cachexia	ORPHA:2576
Sudden Cardiac Failure, Infantile	Metabolic acidosis	OMIM:617222
Biotinidase Deficiency	Organic aciduria, Decreased circulating biotinidase concentration, Hyperammonemia, Metabolic keto...	ORPHA:79241
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Lactic acidosis, Elevated...	OMIM:603041
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Episodic metabolic acidosis, Ethylmalonic aciduria	OMIM:201470
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
Juvenile Polyposis Syndrome	Edema, Growth delay, Anasarca, Extrahepatic portal hypertension, Hypoproteinemia, Anemia	ORPHA:2929
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Charge Syndrome	Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:214800
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis, Neonatal death	OMIM:618232
Bullous Pemphigoid	Diabetes mellitus, Eczema, Psoriasiform dermatitis, Weight loss	ORPHA:703
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Craniosynostosis, Recurrent otitis media, Conjunctivitis, Pul...	OMIM:616268
Jacobsen Syndrome	Multicystic kidney dysplasia, Short stature, Growth delay, Webbed neck, Intrauterine growth retar...	ORPHA:2308
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight	OMIM:619769
Tetrasomy 9P	Renal dysplasia, Myositis, Recurrent urinary tract infections, Pericarditis, Raynaud phenomenon, ...	ORPHA:3310
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Limited elbow extension, Galactosuria	ORPHA:85276
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Eosinophilic Fasciitis	Arthritis, Fasciitis, Weight loss, Myositis	ORPHA:3165
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Ecz...	ORPHA:2273
Polycythemia Vera	Myelofibrosis, Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulm...	ORPHA:729
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Joint hypermobility, Renal duplication	OMIM:267750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r...	OMIM:619522
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Joint laxity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumon...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Joint laxity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumon...	ORPHA:353277
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia, Joint hyperflexibility	ORPHA:52503
Cutaneous Mastocytoma	Telangiectasia of the skin, Maculopapular exanthema, Hypotension, Telangiectasia macularis erupti...	ORPHA:79455
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Okamoto Syndrome	Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Severe postnatal growth retardat...	ORPHA:2729
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Micr...	OMIM:619321
Wilson Disease	Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis, Failure to thrive, Pat...	ORPHA:905
Osteosarcoma	Pathologic fracture, Osteolysis, Weight loss	ORPHA:668
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased serum lactate, Dilated cardiomyopathy, Weight loss, Mitral regurgitation, Mildly elevat...	OMIM:607459
Hermansky-Pudlak Syndrome 1	Renal insufficiency	OMIM:203300
3-Methylglutaconic Aciduria, Type Viii	Increased serum lactate, Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic ac...	OMIM:617248
Agel Amyloidosis	Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Blepharochalasis, Abnormal spleen...	ORPHA:85448
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss	ORPHA:388
Histiocytoid Cardiomyopathy	Lactic acidosis, Hypoglycemia, Renal cyst, Pulmonary edema	ORPHA:137675
Chronic Graft Versus Host Disease	Fasciitis, Phimosis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weight lo...	ORPHA:99921
Prolactinoma	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo...	ORPHA:2965
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the renal pelvis, Right-to-left shunt, Dilatation of the ...	OMIM:265380
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Hyperextensible thumb, Joint laxity, Abnormal circulating thyroid hormone concentrati...	ORPHA:480880
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Renal insufficiency, Abnormality of the kidney, Glomeruloneph...	ORPHA:289390
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Intracranial hemorrhage, Weight loss	ORPHA:3226
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Vesicoureteral ref...	ORPHA:2363
Mcdonough Syndrome	Cachexia	ORPHA:2471
Nipah Virus Disease	Infectious encephalitis, Hypotension	ORPHA:99825
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Pseudomyxoma Peritonei	Inflammation of the large intestine, Weight loss	ORPHA:26790
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Follicular Lymphoma	Weight loss	ORPHA:545
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Eosinophilia, Facial edema, Periorbital edema, Xe...	ORPHA:449432
Velocardiofacial Syndrome	Hypoparathyroidism, Hypocalcemia	OMIM:192430
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Polyhydramnios, R...	ORPHA:709
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Nod...	ORPHA:79078
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Chromosome 5Q12 Deletion Syndrome	Decreased body mass index, Hypotension	OMIM:615668
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Vici Syndrome	Lymphopenia, Elevated circulating creatine kinase concentration, Postnatal growth retardation, Le...	OMIM:242840
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures, Aspiration pneumonia, Weight loss	ORPHA:216866
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Intrauterine growth retardation	ORPHA:255138
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs...	OMIM:301074
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Kabuki Syndrome 1	Crossed fused renal ectopia, Premature thelarche, Micropenis, Congenital hypothyroidism, Recurren...	OMIM:147920
Kaposi Sarcoma	Skin rash, Weight loss	ORPHA:33276
Rubinstein-Taybi Syndrome 1	Joint laxity, Hypospadias, Small for gestational age, Premature thelarche, Flexion contracture, T...	OMIM:180849
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Craniosynostos...	ORPHA:576
Cap Polyposis	Hematochezia, Atrophic gastritis, Weight loss	ORPHA:160148
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim...	ORPHA:740
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Increased serum lactate, Cerebral edema	OMIM:617186
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Right ventricular outlet tract obstruction, Micropenis, H...	OMIM:180700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Osteoporosis, Weight loss, Increased susceptibility to fractures, Syncope, Hypotension	ORPHA:98849
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Benign Recurrent Intrahepatic Cholestasis	Pancreatitis, Weight loss	ORPHA:65682
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Cockayne Syndrome B	Renal insufficiency, Severe short stature, Proteinuria, Postnatal growth retardation, Splenomegal...	OMIM:133540
Immunodeficiency 31C	Osteopenia, Chronic oral candidiasis, Diabetes mellitus, Osteomyelitis, Eczema, Bronchiectasis, C...	OMIM:614162
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Abnormal pelvis bone ossification, Renal hypoplasia,...	ORPHA:93271
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Short stature, Splenomegaly, Severe postnatal growth retardatio...	OMIM:216400
Alexander Disease	Osteopenia, Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotensio...	ORPHA:58
Neuropathy, Congenital Hypomyelinating, 3	Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia	OMIM:618186
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Bradycardia, Hypotension	ORPHA:70587
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss	ORPHA:133
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Elevated circulating calcitonin conce...	ORPHA:1332
Anaplastic Thyroid Carcinoma	Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter	ORPHA:142
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Polyhydramnios, Stillbirth, Intrauterine growth retardation, Hydro...	OMIM:236680
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Hepatitis, Hematuria	ORPHA:728
Thymic Carcinoma	Neoplasm of the thymus, Weight loss	ORPHA:99868
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi...	OMIM:164310
Coccidioidomycosis	Renal insufficiency, Abnormality of the kidney, Eosinophilia, Abnormality of the spleen, Abnormal...	ORPHA:228123
Costello Syndrome	Renal insufficiency, Short stature, Hypoglycemia, Polyhydramnios, Webbed neck	OMIM:218040
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Renal cyst, Duplication of renal pelvis, Cardiomyopathy, Pancreatic islet-cell hyper...	OMIM:312870
Peters-Plus Syndrome	Joint laxity, Ureteral duplication, Hypospadias, Craniosynostosis, Limited elbow movement, Renal ...	OMIM:261540
Tetrasomy 12P	Joint hyperflexibility, Cachexia	ORPHA:884
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Weight loss	ORPHA:411703
Short Syndrome	Joint hyperflexibility, Diabetes mellitus, Weight loss	ORPHA:3163
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a...	ORPHA:95459
Focal Dermal Hypoplasia	Joint laxity, Ureteral duplication, Horseshoe kidney, Telangiectasia, Bifid ureter, Hydronephrosis	OMIM:305600
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Radioulnar synostosis, M...	OMIM:606170
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Coffin-Siris Syndrome 1	Joint laxity, Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis	OMIM:135900
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Combined Oxidative Phosphorylation Defect Type 23	Lactic acidosis	ORPHA:444013
Nijmegen Breakage Syndrome	Pollakisuria, Recurrent pneumonia, Cachexia	ORPHA:647
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis, Failure to thrive, Weight loss	ORPHA:92050
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Proximal Spinal Muscular Atrophy	Metabolic acidosis	ORPHA:70
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Flexion contr...	ORPHA:261537
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Hypotension, Arrhythmia, Failure ...	ORPHA:2135
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Peritonitis, Weight loss, Cholecystitis	ORPHA:131
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Recur...	ORPHA:2152
Otopalatodigital Syndrome, Type Ii	Hypospadias, Elbow contracture, Sclerosis of skull base, Nonossified fifth metatarsal, Hydronephr...	OMIM:304120
Pneumocystosis	Acute infectious pneumonia, Interstitial pneumonitis, Weight loss, Chronic oral candidiasis	ORPHA:723
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Erythroderma	ORPHA:79456
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Kikuchi-Fujimoto Disease	Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Vasculiti...	ORPHA:50918
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Flexion contr...	ORPHA:261552
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short statur...	ORPHA:199
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Weight loss	ORPHA:221098
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Flexion contracture, Weight loss, Neoplasm of the...	ORPHA:144
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Chronic gastritis, Epidural hem...	OMIM:619472
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhag...	ORPHA:109
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint stiffness, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovit...	ORPHA:85408
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Acrodermatitis Enteropathica	Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Hematochezia, Melena, Intestinal bleeding, Hypoalbuminemia	ORPHA:79076
Wolman Disease	Adrenal insufficiency, Adrenal calcification, Cachexia	ORPHA:75233
Poliomyelitis	Stiff neck, Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis	ORPHA:2912
Proteus Syndrome	Thymus hyperplasia, Craniosynostosis, Sudden cardiac death, Neoplasm of the thymus, Pulmonary emb...	ORPHA:744
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc...	ORPHA:31204
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Xerostomia, Renal tubular epit...	ORPHA:95455
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Keratoconjunctivitis sicca, Colitis	ORPHA:309031
Infantile Krabbe Disease	Abnormal heart rate variability, Failure to thrive, Cachexia	ORPHA:206436
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, Cachexia	OMIM:312750
Nodular Non-Suppurative Panniculitis	Panniculitis, Inflammatory abnormality of the eye, Weight loss	ORPHA:33577
Primary Myelofibrosis	Cachexia, Portal hypertension	ORPHA:824
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Perry Syndrome	Weight loss	OMIM:168605
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ...	ORPHA:221
Oromandibular Dystonia	Weight loss	ORPHA:93958
Familial Thrombocytosis	Transient ischemic attack, Weight loss, Syncope, Cerebral ischemia, Pulmonary arterial hypertension	ORPHA:71493
Blau Syndrome	Clear cell renal cell carcinoma, Splenomegaly, Xerostomia, Stage 5 chronic kidney disease, Joint ...	ORPHA:90340
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,...	OMIM:107480
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Flexion contracture of finger, Ankle flexion contracture, Flexion contracture, E...	ORPHA:2020
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Choreoacanthocytosis	Arthritis, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:2388
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Cachexia, Limited elbow movement, Congestive heart failure, Ost...	ORPHA:558
Fryns-Smeets-Thiry Syndrome	Joint hyperflexibility, Cachexia	ORPHA:2058
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Paraganglioma, Weight loss	ORPHA:97286
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Elevated gamma-glutamyltransferase l...	ORPHA:64
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Hypotension, ...	ORPHA:100079
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:95494
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Chronic calcifying pancreatitis, Maternal diabe...	ORPHA:103918
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Cholecystitis, Weight loss	ORPHA:100086
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Stickler Syndrome	Cachexia, Osteoarthritis, Uveitis, Reduced bone mineral density, Joint hyperflexibility, Chronic ...	ORPHA:828
Hereditary Sensory And Autonomic Neuropathy Type 4	Growth delay, Chronic kidney disease, Anemia	ORPHA:642
Seckel Syndrome	Cachexia, Craniosynostosis, Joint hyperflexibility	ORPHA:808
Plague	Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Enterocolitis,...	ORPHA:707
Malt Lymphoma	Abnormality of the thyroid gland, Posterior uveitis, Weight loss	ORPHA:52417
Familial Pancreatic Carcinoma	Diabetes mellitus, Weight loss	ORPHA:1333
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Klatskin Tumor	Weight loss	ORPHA:99978
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Cachexia, Bacterial endocarditis, Delayed puberty, Pulmonary ar...	ORPHA:2072
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Cachexia	ORPHA:1969
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Norrie Disease	Failure to thrive, Diabetes mellitus, Cachexia, Delayed puberty	ORPHA:649

Histopathology

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

There is no histopathology data for Slc12a1

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 Slc12a1.

No publications found that use IMPC mice or data for Slc12a1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Slc12a1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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