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Gene: Clcnkb MGI:1930643

Gene Summary

Name:

chloride channel, voltage-sensitive Kb

Synonyms:

Clck2, ClC-K2, Clcnk2, Clcnk1l

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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
enlarged kidney	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
improved glucose tolerance	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.93×10^-17
decreased mean corpuscular volume	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.15×10^-08
increased grip strength	Clcnkb^em1(IMPC)Mbp	HOM	Middle aged adult	6.64×10^-10
abnormal skin morphology	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased red blood cell distribution width	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.32×10^-06
increased basophil cell number	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.98×10^-05
abnormal kidney morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
improved glucose tolerance	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.53×10^-06
increased neutrophil cell number	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.57×10^-06
abnormal heart morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged urinary bladder	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart shape	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased total body fat amount	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.32×10^-10
increased fasting circulating glucose level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.13×10^-10
abnormal bone structure	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.01×10^-06
decreased locomotor activity	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.92×10^-06
increased blood urea nitrogen level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	6.59×10^-12
decreased mean corpuscular hemoglobin	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	5.04×10^-08
increased circulating cholesterol level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.19×10^-08
increased circulating creatinine level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	3.24×10^-05
abnormal urinary bladder morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged liver	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating alkaline phosphatase level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	2.28×10^-18
decreased heart weight	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.54×10^-11
enlarged spleen	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
increased lean body mass	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.90×10^-10
shortened QRS complex duration	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.48×10^-05
abnormal ovary morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal cholesterol homeostasis	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	8.14×10^-08
abnormal lymph node morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	6.16×10^-07
abnormal liver morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating creatinine level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.68×10^-14
decreased lymphocyte cell number	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.06×10^-05
increased blood urea nitrogen level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.34×10^-23
abnormal spleen morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
shortened QT interval	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.35×10^-05
abnormal stomach morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal pancreas morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00

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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.

Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

82 Images

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X-ray

XRay Images Whole Body Lateral Orientation

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Clcnkb 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 Clcnkb (4 diseases)
Human diseases predicted to be associated with Clcnkb (1969 diseases)

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

Disease	Matching phenotypes	Source
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Hyperactive renin-ang...	OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate...	OMIM:613090
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Hypokalemia, Hyperprostaglandinuria, Hyperactive renin-a...	ORPHA:89938
Gitelman Syndrome	Delayed puberty, Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Rena...	ORPHA:358

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

Disease	Matching phenotypes	Source
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Hyperactive renin-ang...	OMIM:607364
Familial Hypoaldosteronism	Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Hypotension, Hypovolemia, Increased ci...	ORPHA:427
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Orthostatic hypotens...	ORPHA:556037
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Increased circulating corticosterone l...	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Renal salt wasting, Hypotension, Increased circulating renin level, Hyponatremia, G...	OMIM:203400
Bartter Syndrome, Type 1, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:601678
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Orthostatic hypotens...	ORPHA:556030
Bartter Syndrome, Type 5, Antenatal, Transient	Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu...	OMIM:300971
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,...	OMIM:601198
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate...	OMIM:613090
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Hyperactive ...	OMIM:241200
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Decreased serum bicarbonate concentration, Metabolic acidosis, Hypokalemia, Hyperchloremic acidos...	OMIM:604278
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Hypovolemia, Nephrogenic diabetes insipidus, Funct...	ORPHA:223
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Hypokalemia, Hyperprostaglandinuria, Hyperactive renin-a...	ORPHA:89938
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Metabolic acidosis, Hypokalemia, Hypercalciuria, Growth delay, Nephrocalcinosis, Distal renal tub...	OMIM:602722
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Decreased serum bicarbonate concentration, Hypocitraturia, Decr...	ORPHA:18
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc...	OMIM:248190
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate...	OMIM:602522
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag...	ORPHA:73224
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ...	OMIM:616963
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagn...	OMIM:620152
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ...	ORPHA:564178
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Metabolic acidosis, Hypokalemia, Renal tubular dysfunction, Sho...	OMIM:134600
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium...	OMIM:618314
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Oliguria, Hypotension, Hypovole...	ORPHA:31824
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch...	ORPHA:411634
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Elevated systolic blood pressure, Decreased circulati...	OMIM:300539
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre...	OMIM:248250
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi...	OMIM:241150
Acute Adrenal Insufficiency	Delayed puberty, Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Hyperuricemia, Adrena...	ORPHA:95409
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Hypertension, ...	OMIM:612780
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting, Hyperaldosteronism	OMIM:619406
Proximal Renal Tubular Acidosis	Bicarbonaturia, Low-molecular-weight proteinuria, Global proximal tubulopathy, Hypokalemia, Hyper...	ORPHA:47159
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Metabolic acidosis, Isothenuria, Hypokalemia, Short stature, Nephrocalcinosis, Distal renal tubul...	OMIM:611590
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor...	ORPHA:2843
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperuricemia, Increased circulating lactate concentration, Increas...	OMIM:613845
Gitelman Syndrome	Delayed puberty, Polyuria, Prolonged QT interval, Hypokalemia, Hypocalciuria, Renal potassium was...	OMIM:263800
East Syndrome	Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Hyp...	ORPHA:199343
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Short stature, Nephrocalcinosis, De...	ORPHA:320
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hypertension, Adrenal h...	OMIM:613677
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal...	OMIM:143880
Liddle Syndrome	Hypokalemia, Renal insufficiency, Hypertension, Cerebral ischemia, Arrhythmia, Nephropathy	ORPHA:526
Nephronophthisis 9	Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro...	OMIM:613824
Variegate Porphyria	Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Increased urinary porphobilinogen, Tac...	OMIM:176200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Metabolic acidosis, Lactic acidosis, Low plasma...	OMIM:615751
Gaisböck Syndrome	Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Coronary artery atheroscl...	ORPHA:90041
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level, Hypertension, Decreased circulating aldosterone l...	OMIM:177200
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Hyperaldosteronism	OMIM:620125
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hypernatriuria, Decreased circulating ...	ORPHA:168558
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Hypotension, Elevated circulating creatine kinase concentration, Tac...	OMIM:145600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hypernatriuria, Decreased circulating ...	ORPHA:289548
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Renal salt wasting, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoal...	OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increas...	OMIM:177735
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, Hypotensi...	OMIM:611489
Nephronophthisis-Like Nephropathy 2	Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Elevated circulating creatinine co...	OMIM:619468
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
Fanconi-Bickel Syndrome	Postnatal growth retardation, Increased serum bile acid concentration, Generalized aminoaciduria,...	OMIM:227810
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis	OMIM:222100
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	OMIM:214700
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c...	OMIM:617872
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating androstenedione concentration, Renal salt wasting, Penoscrota...	ORPHA:90791
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers...	OMIM:256100
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Renal Tubular Acidosis Iii	Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia	OMIM:267200
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Abnormal T-wave, Hypokalemia, Neoplasm of the adrenal gland, Decreased circulating renin level, H...	ORPHA:231625
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu...	OMIM:174000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in females, Elevated urin...	ORPHA:90794
Cocaine Intoxication	Acute kidney injury, Ischemic stroke, Myocardial infarction, Hematuria, Prolonged QT interval, Ta...	ORPHA:90068
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology, Hypovolemia	ORPHA:2290
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Metabolic acidosis, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating crea...	OMIM:614723
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Hypertension, Tach...	OMIM:121300
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Metabolic acidosis, Growth delay, Glycosuria, Hyperphosphaturia...	OMIM:615605
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenome...	OMIM:612526
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Autosomal Dominant Hypocalcemia	Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, Hyperphosphatemia	ORPHA:428
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ...	ORPHA:231580
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan...	ORPHA:567548
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Adrenal ...	ORPHA:75234
Familial Renal Glucosuria	Recurrent urinary tract infections, Nephropathy, Glycosuria, Moderate postnatal growth retardatio...	ORPHA:69076
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Increased...	ORPHA:171876
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Renal salt wasting, Coronary artery atherosclerosis, Bone-mar...	ORPHA:275761
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hypotension, Hypothyroidism, Nep...	ORPHA:85445
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid	OMIM:206400
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Cystinosis	Delayed puberty, Hypokalemia, Nephropathy, Short stature, Proteinuria, Hypophosphatemia, Renal in...	ORPHA:213
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Abnormality of the upper...	ORPHA:99885
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Renal Hypoplasia, Bilateral	Hyperkalemia, Metabolic acidosis, Decreased glomerular filtration rate, Vesicoureteral reflux, Be...	ORPHA:97362
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Growth delay, Glycosuria, Hyperphosphaturia, Renal...	ORPHA:411629
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Intestinal obstruction, Decreased HDL cholesterol concentration, Gastro...	ORPHA:85450
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg...	OMIM:278000
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Increased circulating androstenedione concentration, Isosexual precocious pub...	ORPHA:90795
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid	OMIM:612740
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Azoospermia, In...	OMIM:615703
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Growth delay, Short stature, Decrea...	OMIM:218030
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Renal tubular atrophy, Sta...	OMIM:606966
Glycogen Storage Disease Ib	Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f...	OMIM:232220
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Elevated circulat...	ORPHA:264580
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Metabolic alkalosis, Hypokalemia	ORPHA:251274
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism, Hyperchlo...	OMIM:614492
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp...	OMIM:103900
Hereditary Coproporphyria	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Hyp...	ORPHA:79273
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Increased circul...	ORPHA:85138
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Proteinuria, Hyp...	OMIM:618913
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hypokalemia, Recurrent urinary tract infections, P...	OMIM:613095
Fanconi Renotubular Syndrome 2	Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp...	OMIM:613388
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Elevated urinary prostaglandin E2 level	OMIM:167100
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal ca...	ORPHA:405
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Macdermot-Winter Syndrome	Intrauterine growth retardation, Hydronephrosis	OMIM:247990
Tyrosinemia, Type I	Enlarged kidney, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Galactokinase Deficiency	Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in...	ORPHA:79237
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Nephrogenic diabetes insipidus, Short stature, Hypernatremia, Megacystis	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Diabetes insipidus, Short stature, Hypernatremia, Megacystis	OMIM:304800
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c...	OMIM:620300
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hyperuricemi...	ORPHA:543
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Pituitary Adenoma 4, Acth-Secreting	Alkalosis, Nephrolithiasis, Hypokalemia	OMIM:219090
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level, Hypertension, Nephrolithiasis, Pulmonary arterial...	OMIM:615474
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Metabolic acidosis, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperech...	OMIM:611555
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Dysuria, Uric acid ...	ORPHA:976
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, N...	OMIM:608836
Cholera	Acute kidney injury, Lactic acidosis, Hypokalemia, Hypocalcemia, Hyponatremia, Acidosis, Abnormal...	ORPHA:173
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Snakebite Envenomation	Acute kidney injury, Tachycardia, Cerebral ischemia, Hypotension, Hyponatremia, Cardiogenic shock...	ORPHA:449285
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614495
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Elevated c...	ORPHA:231111
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,...	OMIM:242530
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s...	ORPHA:54370
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Hypophosphatemia, Episodic metabolic acidosis, Stage ...	OMIM:219800
Helix Syndrome	Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency	OMIM:617671
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De...	ORPHA:3467
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Metabolic alkalosis, Nephrolithiasis, Hypokalemia	ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Elevated circulating creatine kinase concentration, Focal segmental glomerul...	OMIM:616239
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:268200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Fasting hypoglycem...	ORPHA:79240
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortoc...	ORPHA:231632
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib...	OMIM:266900
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614496
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Relapsing Fever	Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Hypotensio...	ORPHA:91547
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Metabolic acidosis, Hypouricemia, Short stature, Glycosuria, Hyperphosphaturia, Nephrocalcinosis,...	OMIM:616026
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Hyperparathyroidism, Neonatal Severe	Polyuria, Elevated circulating parathyroid hormone level, Calcinosis, Hypercalciuria, Primary hyp...	OMIM:239200
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Glucose intolerance, Eleva...	OMIM:235200
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda...	OMIM:613313
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Hyperuricemia, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria,...	ORPHA:411536
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Renal tubular...	OMIM:613550
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Elevated circulating creatinine concentration, El...	ORPHA:275555
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Type ...	OMIM:616860
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly, Abnormal small intest...	ORPHA:100025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612925
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy	ORPHA:52416
Renal Failure, Progressive, With Hypertension	Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine conc...	OMIM:161900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte...	ORPHA:90793
Liddle Syndrome 2	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:618126
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Abnormal heart morphol...	ORPHA:398124
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Hepatomegaly, Clitoral hype...	ORPHA:528
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Delayed puberty, Tubu...	ORPHA:79259
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Familial Glucocorticoid Deficiency	Hyperkalemia, Renal salt wasting, Recurrent urinary tract infections, Decreased circulating dehyd...	ORPHA:361
Mercury Poisoning	Acute kidney injury, Hypokalemia, Hypertension, Hypotension, Tachycardia	ORPHA:330021
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thora...	ORPHA:91387
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612926
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Decreased circulating carnitine concentration, Cardiomyopathy, Hypotension...	ORPHA:159
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Glycogen Storage Disease Ia	Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f...	OMIM:232200
3-Methylglutaconic Aciduria, Type V	Atrial septal defect, Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopat...	OMIM:610198
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Bradycardia, Cardiomyopathy, Elevated circulating creatine kinase concentr...	OMIM:212138
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Growth delay, Renal hypoplasia, Hyp...	OMIM:617913
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis, Hyperalaninemia, Increased circulating lactate concentration, Hyperprolinemia, L...	ORPHA:79246
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Hypercholesterolemia, Decreased circulating ceruloplasmin concentration...	OMIM:616829
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Short stature, Hydronephrosis, Abnormal localization of kidney, Intraut...	ORPHA:195
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ...	OMIM:612924
Marburg Hemorrhagic Fever	Hypokalemia, Bradycardia, Capillary leak, Hyperamylasemia, Elevated circulating creatine kinase c...	ORPHA:99826
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Increased circulating lactate concentration	OMIM:614652
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
H Syndrome	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Abnormality of the kidney, Lymphadenopath...	ORPHA:168569
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti...	OMIM:162000
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Protein...	OMIM:608104
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro...	OMIM:191800
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Hypotension, Renal tubular acidosis	ORPHA:79155
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Medullary Sponge Kidney	Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis	ORPHA:1309
Timothy Syndrome	Prolonged QT interval, Bradycardia, Hypocalcemia, Patent foramen ovale, Pulmonary arterial hypert...	OMIM:601005
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Posterior Urethral Valve	Postnatal growth retardation, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary...	ORPHA:93110
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly	OMIM:608971
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroid hyperplasi...	OMIM:617994
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc...	ORPHA:99845
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular...	OMIM:613490
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypoketotic hypoglycemia, Hypoproteinemia, Hyperammonemia, Hypocalcemia, P...	ORPHA:26793
X-Linked Intellectual Disability, Schimke Type	Short stature, Hydronephrosis, Vesicoureteral reflux	ORPHA:85285
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Metabolic acidosis, Renal tubular acidosis, Glycosuria, Nephrocalcinosis, Proteinuria, Conjugated...	OMIM:613404
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine	ORPHA:391457
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydronephrosis, Hydroureter	OMIM:618240
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum...	OMIM:202010
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyp...	ORPHA:542323
Image Syndrome	Intrauterine growth retardation, Hydronephrosis, Hypospadias	ORPHA:85173
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Citrullinemia, Classic	Elevated plasma citrulline, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Respir...	OMIM:215700
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia...	ORPHA:1501
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi...	ORPHA:340
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Increased circulating brain natriuretic peptide ...	OMIM:601494
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Growth...	ORPHA:57
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Renal Tubular Dysgenesis	Renotubular dysgenesis, Anuria, Abnormality of the urinary system, Hypotension	OMIM:267430
Beta-Thalassemia	Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Le...	ORPHA:64743
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr...	OMIM:612933
Loeffler Endocarditis	Left atrial enlargement, Myocardial eosinophilic infiltration, Abnormal morphology of the chordae...	ORPHA:75566
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Metabolic acidosis, Generalized aminoaciduria, Renal tubular acidosis, Hype...	ORPHA:2088
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Atrial sep...	OMIM:620211
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Dec...	ORPHA:231226
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:91354
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Elevated circulating ...	ORPHA:470
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Hypertension, Nephrotic syndrome, Micro...	ORPHA:84090
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega...	OMIM:607616
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Nephrotic syndrome, Splenomegaly, Con...	OMIM:269920
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Hypotension, Pericarditis, Arrhythmia, Oliguria, R...	ORPHA:188
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Hypera...	OMIM:620454
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Glucose/Galactose Malabsorption	Glycosuria, Metabolic acidosis	OMIM:606824
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Cog4-Cdg	Cirrhosis, Elevated circulating hepatic transaminase concentration, Recurrent infection of the ga...	ORPHA:263501
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Leprechaunism	Postnatal growth retardation, Enlarged kidney, Hyperinsulinemia, Hypokalemia, Long penis, Hyperca...	ORPHA:508
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocio...	OMIM:614736
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ...	ORPHA:93598
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Hypospadias	OMIM:201710
Myofibrillar Myopathy 10	Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Elbow flexion contra...	OMIM:619040
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Elevated ...	ORPHA:57777
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-...	ORPHA:85451
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg...	OMIM:615631
Legionnaires Disease	Myocarditis, Hematuria, Hypotension, Hyponatremia, Pericarditis, Proteinuria, Arrhythmia, Renal i...	ORPHA:549
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Prolonged QT interval, Hypoketotic hypoglycemia, De...	ORPHA:71212
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis, Severe short stature, Aminoaciduria	OMIM:204730
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Respiratory alkalosis, Low plasma ...	OMIM:311250
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst	OMIM:615994
Idiopathic Hypercalciuria	Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis	ORPHA:2197
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Hyperleucinemia, Increased blood urea ...	OMIM:620085
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Polyuria, H...	OMIM:618183
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Xanthinuria, Type I	Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr...	OMIM:278300
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce...	ORPHA:90065
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Muscular Dystrophy, Becker Type	Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia	OMIM:300376
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Hypotension, Increased circulating procalc...	ORPHA:33475
Argininosuccinic Aciduria	Oroticaciduria, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia int...	OMIM:207900
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Anemia, Elevated circulating creatinine concentration, Orthostatic hypotension,...	ORPHA:230
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo...	OMIM:154230
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hydronephrosis, Renal insufficiency	OMIM:615996
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Cleft palate, Hyperechogenic ...	OMIM:613885
Hyperuricemia, Hprt-Related	Renal insufficiency, Hyperuricosuria, Nephrolithiasis, Hyperuricemia	OMIM:300323
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ...	OMIM:619855
Ethylene Glycol Poisoning	Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Shock, Hematuria, Prol...	ORPHA:31826
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ...	OMIM:236730
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Proximal tubulopathy	OMIM:560000
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol...	OMIM:610947
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Pearson Syndrome	Postnatal growth retardation, Lactic acidosis, Decreased serum bicarbonate concentration, Elevate...	ORPHA:699
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El...	OMIM:617056
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Ascites, Polysplenia, Hypoplast...	OMIM:200995
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Perlman Syndrome	High, narrow palate, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of ...	ORPHA:2849
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Glycosuria, Hyperlipidemia, Ketonuria	ORPHA:2089
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Congenital Toxoplasmosis	Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating hepatic transaminase concen...	ORPHA:858
Ethanolaminosis	Cardiomegaly	OMIM:227150
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Redu...	ORPHA:158057
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Neurogenic bladder...	ORPHA:79473
Gitelman Syndrome	Delayed puberty, Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Rena...	ORPHA:358
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Increased circulating iron con...	OMIM:602390
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated ci...	ORPHA:369
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Increased blood urea...	OMIM:274150
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hypertension, Stage 5 chronic ...	OMIM:618061
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance,...	OMIM:606069
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Teratoma, Pineal	Polyuria	OMIM:273120
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul...	ORPHA:54251
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepati...	ORPHA:247585
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Crystalluria,...	ORPHA:411543
Immunodeficiency 53	Failure to thrive, Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia	OMIM:612286
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension, Hypokalemia	OMIM:605635
Harderoporphyria	Increased fecal harderoporphyrin, Increased urine harderoporphyrin level, Hepatomegaly, Red urine...	OMIM:618892
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Abnormal cardiac ventricular funct...	ORPHA:439232
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, In...	OMIM:618280
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration, Postnatal growth retardation	OMIM:615361
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Microvesicula...	OMIM:212140
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Fanconi Anemia, Complementation Group O	Short stature, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst	OMIM:613390
Mitochondrial Complex I Deficiency, Nuclear Type 35	Lactic acidosis, Elevated urinary 4-hydroxybutyric acid, Metabolic acidosis, Elevated lactate:pyr...	OMIM:619003
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Thrombocytosis, Elevated circulating C-reactive protein concentration, L...	OMIM:614034
Glucoglycinuria	Glycosuria, Hyperglycinuria	OMIM:138070
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Hyperhomocysti...	OMIM:277400
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Parathyroid Carcinoma	Lipoma, Osteoporosis, Hypercalcemia, Hypophosphatemia, Weight loss, Shortened QT interval, Chondr...	ORPHA:143
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro...	OMIM:301033
Muscular Dystrophy, Cardiac Type	Carnosinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG	OMIM:309930
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce...	OMIM:224120
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right...	OMIM:306955
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi...	ORPHA:98870
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, H...	ORPHA:403
Renal Tubular Acidosis, Proximal	Hypercalciuria, Hyperchloremic acidosis, Short stature, Proximal renal tubular acidosis, Elevated...	OMIM:179830
Cataract 47	Glycosuria	OMIM:612018
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he...	OMIM:210250
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn...	OMIM:616730
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hyper...	ORPHA:251004
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Grade II vesicoureteral reflux, Proteinuria, Hypokalemia	OMIM:619377
Familial Hyperaldosteronism Type Ii	Hypokalemia, Abnormal circulating renin, Hypertension, Secretory adrenocortical adenoma, Adrenal ...	ORPHA:404
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con...	OMIM:620366
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr...	ORPHA:2364
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti...	ORPHA:567544
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting	OMIM:612287
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatocellula...	ORPHA:465508
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Maternal d...	ORPHA:45452
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation...	OMIM:300635
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
N-Acetylglutamate Synthase Deficiency	Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, Hyperglutaminemia, Alk...	OMIM:237310
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hepatomegaly...	OMIM:614376
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Birk-Landau-Perez Syndrome	Hyperkalemia, Stage 3 chronic kidney disease, Growth delay, Renal hypoplasia, Hyperechogenic kidn...	OMIM:617595
Familial Isolated Hyperparathyroidism	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf...	ORPHA:99879
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Inc...	ORPHA:2924
Hyperparathyroidism-Jaw Tumor Syndrome	Lipoma, Osteoporosis, Shortened QT interval, Hypercalcemia, Hypophosphatemia, Chondrocalcinosis	ORPHA:99880
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega...	ORPHA:417
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Multiple renal cysts, Splenome...	ORPHA:116
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati...	OMIM:615234
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Decreased serum creatinine, Arrhythmia, Thrombocytopenia, Microangiopathic hemol...	ORPHA:54057
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Retrograde ...	ORPHA:49041
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase...	OMIM:235400
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Hematuria, Aortic regurgitation, Melena, Hypotension, Pulmonic steno...	ORPHA:99147
Oligomeganephronia	Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ...	ORPHA:2260
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Postnatal growth retardation, Hypospadias, Hypercalciuria, Hypercalcemia, Intrauterine growth ret...	OMIM:614732
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Flexion contracture, Left ventricular hypertrophy, Elevated circulating creatinine ...	OMIM:616733
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal...	ORPHA:79312
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Gastroesophageal reflux, Dec...	OMIM:201475
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Hyperammonemia, Splenomegaly, Hypoglycemia, Aminoaciduria, Hepatic failure	ORPHA:664
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret...	ORPHA:71275
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ...	OMIM:243910
Congenital Isolated Acth Deficiency	Adrenal hypoplasia, Hypotension, Hyponatremia, Decreased circulating cortisol level, Adrenocortic...	ORPHA:199296
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom...	OMIM:616278
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B...	ORPHA:505248
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Scrub Typhus	Myocarditis, Renal insufficiency, Hypotension	ORPHA:83317
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Beckwith-Wiedemann Syndrome	Enlarged kidney, Neonatal hypoglycemia, Hepatomegaly, Adrenocortical carcinoma, Renal cortical cy...	OMIM:130650
Rabson-Mendenhall Syndrome	Diabetic ketoacidosis, Hypokalemia, Long penis, Severe postnatal growth retardation, Short statur...	ORPHA:769
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc...	ORPHA:157215
Mody	Abnormality of the kidney, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Renal c...	ORPHA:552
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia, Villous atrophy	OMIM:615863
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthinuria, Decreased urinary sulfate, Hypouricemia, Increased urinary taurine, Decreased urinar...	OMIM:252150
Galactosemia I	Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega...	OMIM:230400
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia, Muscular ventricular septal defect, Hypochromic microcytic anemia, Prolong...	ORPHA:66634
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatremia, Hemoglob...	ORPHA:90038
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Porphyria, Acute Intermittent	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Hypertension, Dysuria, Tachycar...	OMIM:176000
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Ascites, Biliary cirrhosis, S...	ORPHA:186
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux	ORPHA:99976
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting	OMIM:193100
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Lactic acidosis, Hypocalcemia, Nephrolithiasis, Increased circulati...	OMIM:606407
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Failure to thrive, Abno...	ORPHA:99886
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Congenital Myopathy 19	Hydronephrosis, Renal atrophy	OMIM:618578
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h...	OMIM:300908
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Hyperuricemia, Se...	ORPHA:79083
Scorpion Envenomation	Acute kidney injury, Abnormality of acid-base homeostasis, Increased circulating NT-proBNP concen...	ORPHA:466677
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular hypertrophy, H...	OMIM:232400
Galactosemia Iv	Prolonged neonatal jaundice, Hypergalactosemia, Hepatomegaly	OMIM:618881
Coach Syndrome 2	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hepatic fibrosis, Conge...	OMIM:619111
Ovarian Hyperstimulation Syndrome	Capillary leak, Increased circulating gonadotropin level, Increased serum testosterone level, Hyp...	ORPHA:64739
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:255120
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, High palate, Precocious puberty, Decr...	OMIM:616222
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Hypohomocysteinemia, Decreased serum creatinine, Failure to thrive, Bicuspid aort...	OMIM:617744
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Osteopenia, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fi...	OMIM:613327
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Hypercalciuria, Medullary nephrocalcinosis	OMIM:617993
Multiple Endocrine Neoplasia Type 1	Hematemesis, Reduced bone mineral density, Melena, Hypertension, Hypercalcemia, Shortened QT inte...	ORPHA:652
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
Glycogen Storage Disease Ixb	Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hypoglycemia	OMIM:261750
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Eleva...	OMIM:201910
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Metabolic alkalosis, Hypokalemia	ORPHA:786
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,...	OMIM:613239
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Anemia,...	ORPHA:75563
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei...	OMIM:619644
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic aciduria, Methylmalonic acidemia, Acidosis, Dicarboxylic acidemia, Methylmalonic aci...	ORPHA:289504
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology	ORPHA:3319
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Lactic acidosis, Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrom...	ORPHA:436271
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Elevated ...	ORPHA:158061
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom...	OMIM:618963
Hypophosphatemic Rickets, Autosomal Recessive, 2	Short stature, Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis	OMIM:613312
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Ketonuria	OMIM:618857
Citrullinemia Type I	Hyperammonemia, Elevated plasma citrulline, Respiratory alkalosis	ORPHA:247525
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Bacterial Toxic-Shock Syndrome	Myocarditis, Shock, Hypocalcemia, Recurrent urinary tract infections, Capillary leak, Elevated ci...	ORPHA:36234
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Lactic acidosis, Increased circulating lactate concentration, Glycosuria, Hyperphosphaturia, Prot...	OMIM:220110
Cog7-Cdg	Abnormality of the kidney, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:79333
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Cholelithiasis, Sclerosing cholangitis, Live...	ORPHA:69663
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To...	ORPHA:90647
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, Poikilocytosis,...	OMIM:618278
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine, Hype...	ORPHA:228308
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Camptodactyly, Failure to thrive, Anisocytosis, Flexion contracture, Aminoaciduria	OMIM:604273
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Beta-Ketothiolase Deficiency	Hyperuricemia, Hypertension, Hypotension, Hyperammonemia, Ketonuria	ORPHA:134
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc...	OMIM:267700
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Abnormal circulating citrulline concentration, Hyperornithinemia, Oroticaciduria, Hyperammonemia,...	ORPHA:415
Pheochromocytoma	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Elevated urinary norepinephrin...	OMIM:171300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome	OMIM:268315
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome...	ORPHA:329918
Pseudohypoaldosteronism Type 2	Hyperkalemia, Hypertension, Short stature, Growth delay	ORPHA:757
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Pauci-Immune Glomerulonephritis	Small vessel vasculitis, Acute kidney injury, Decreased glomerular filtration rate, Glomerular sc...	ORPHA:93126
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal...	OMIM:605814
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Elevated circulating carcinoembryo...	ORPHA:100083
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Hematuria, Anemia, Increased mean corpuscular volume, Ventricular septa...	OMIM:617021
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:42
Hemochromatosis, Type 3	Anemia, Cardiomyopathy, Increased circulating iron concentration, Lymphopenia, Elevated transferr...	OMIM:604250
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Steatorrhea, Protein-losing enteropathy, Villous atrop...	OMIM:602579
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Hyperammonemia, Episodic ammonia intoxication, Respiratory alkalosis, Low plasma citrulline, Hypo...	OMIM:237300
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Abnormal stomach mo...	ORPHA:281090
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Blue Diaper Syndrome	Metabolic acidosis, Blue urine, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Paroxysmal Nocturnal Hemoglobinuria	Abnormal erythrocyte enzyme concentration or activity, Impotence, Unconjugated hyperbilirubinemia...	ORPHA:447
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Hyperalaninemia, Elevated circulating alanine aminotransfe...	OMIM:619048
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Delayed puberty, Glomerulopathy, Hematuria, Hypercholesterolemi...	ORPHA:534
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Prolon...	ORPHA:79102
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Distal Duplication 6P	Short stature, Renal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Abnormality of ...	ORPHA:1745
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn...	OMIM:618348
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Functional abnormality ...	ORPHA:29073
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Renal hypoplasia/aplasia, Abnormal vagina morphology, Ascites, Hypercalcemi...	ORPHA:2123
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho...	OMIM:616217
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Hypophosphatemic rickets, Glycosuria, Proteinuria, Abnormal circulating fatty-a...	ORPHA:263455
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly...	ORPHA:540
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pylor...	ORPHA:381
Webb-Dattani Syndrome	Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Short stature, Hypernatremia, Hydroneph...	OMIM:615926
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Palpitations, Hyperthyroidism, Tachycardia, Goiter	OMIM:188580
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion...	OMIM:310300
Castleman Disease	Intestinal obstruction, Jaundice, Hematuria, Mediastinal lymphadenopathy, Elevated circulating C-...	ORPHA:160
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Prolonged QTc interval, Cardiac arrest, Elevated circulating creatine kinase concentration, Gait ...	OMIM:616878
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Cockayne Syndrome Type 1	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cryptorchidism, In...	ORPHA:90321
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS ...	ORPHA:75565
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, High palate, Precocious puberty, Pyloric stenosis, Bifid uv...	ORPHA:96184
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, B...	OMIM:301068
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, High palate, Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:254531
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Coronary Arterial Fistula	Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte...	ORPHA:2041
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count...	OMIM:619802
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Rhabdoid Tumor	Renal neoplasm, Hematuria, Lymphadenopathy, Anemia, Hypercalcemia, Thrombocytopenia, Neoplasm of ...	ORPHA:69077
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Hydronephrosis, Vesicoureteral reflux	OMIM:618265
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m...	ORPHA:860
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Hepatomegaly, Renal insufficiency, Anemia	ORPHA:28
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypo...	ORPHA:276575
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun...	OMIM:608600
Tetraploidy	Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:3305
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,...	ORPHA:276580
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnorm...	ORPHA:466650
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu...	OMIM:266200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Normochromic anemia, Glomerular sclerosis, Cardio...	ORPHA:247691
Laron Syndrome	Delayed puberty, Abnormality of the endocrine system, Hypoplasia of penis, Hypoglycemia, Hypercho...	ORPHA:633
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Restrictive car...	OMIM:612422
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis, Proteinu...	OMIM:209010
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension, Mic...	ORPHA:319213
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Metabolic acidosis, Myoglobinuria, Elevated creatine kinase af...	ORPHA:423
Dengue Fever	Gastrointestinal hemorrhage, Hypoproteinemia, Hypotension, Epistaxis, Cerebral hemorrhage	ORPHA:99828
Hyperkalemic Periodic Paralysis	Hyperkalemia, Congestive heart failure, Hypokalemia, Elevated circulating creatine kinase concent...	ORPHA:682
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Hellp Syndrome	Acute kidney injury, Hypotension, Internal hemorrhage, Proteinuria, Cerebral hemorrhage, Hemoglob...	ORPHA:244242
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Elevated circu...	OMIM:607765
Granulomatous Slack Skin	Acute kidney injury, Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastr...	ORPHA:79301
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Ac...	OMIM:151660
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Propionic Acidemia	Hepatomegaly, Organic aciduria, Cardiomyopathy, Hyperammonemia, Hypoglycemia	ORPHA:35
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Seckel Syndrome 10	Hypertriglyceridemia, Congestive heart failure, Hypertension, Glycosuria, Elevated circulating fo...	OMIM:617253
Primary Hyperoxaluria Type 3	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ...	ORPHA:93600
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Renal s...	ORPHA:412
Recombinant Chromosome 8 Syndrome	Growth delay, Hydronephrosis, Postnatal growth retardation	OMIM:179613
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph...	ORPHA:397596
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc...	ORPHA:457077
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis	OMIM:619164
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Gastroesophageal reflux, Splenic cyst, Ovarian cyst, ...	OMIM:618188
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Cleft palate, ...	OMIM:608022
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Nelson Syndrome	Anterior hypopituitarism, Secondary hypercortisolism, Diabetes insipidus, Hypokalemia, Adrenocort...	ORPHA:199244
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Renal amyloi...	OMIM:105200
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Hemolytic-uremic syndrome, Elevated circulating creatine kinase concentration, Elev...	OMIM:614727
Muscular Dystrophy, Duchenne Type	Tip-toe gait, Congestive heart failure, Cardiomyopathy, Waddling gait, Elevated circulating creat...	OMIM:310200
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Elevated circulating parathyroid hormone level, Hypospadias, Hypote...	ORPHA:439822
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis...	ORPHA:79328
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noni...	ORPHA:97290
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Reduced haptoglobin level, Anemia, Schistocytosis, Lymphopenia, Recurr...	OMIM:301110
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Glomerulopathy, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrop...	ORPHA:2348
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Conjugated...	ORPHA:234
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Bradycardia, Tachycardia, Hypotension, Oli...	ORPHA:90051
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, ...	ORPHA:93111
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, T...	OMIM:557000
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade...	ORPHA:829
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Colitis, Congenital hypothyroidism	ORPHA:88643
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Growth delay, Calcium nephroli...	OMIM:241530
Propionic Acidemia	Cerebellar hemorrhage, Anemia, Pancytopenia, Hyperglycinuria, Cardiomyopathy, Osteoporosis, Failu...	OMIM:606054
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly, Adrenal calcification	OMIM:620151
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthinuria, Hypouricemia, Increased urinary taurine, Decreased urinary urate, Growth delay, Incr...	OMIM:252160
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentratio...	ORPHA:90060
Serotonin Syndrome	Tachycardia, Acute kidney injury, Hypertension, Hypotension	ORPHA:43116
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Leukopenia...	ORPHA:27
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Hydronephrosis	OMIM:620141
Hepatic Veno-Occlusive Disease	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Increas...	ORPHA:890
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Hypocalcemia, Abnor...	ORPHA:1655
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Hyperammonemia, ...	ORPHA:1667
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Hyperbilirubinemia, Pancreatic hypoplasia...	OMIM:615710
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the urinary system, Abnormal renal morphology, Velopharyngea...	OMIM:182290
Fructose Intolerance, Hereditary	Bicarbonaturia, Lactic acidosis, Metabolic acidosis, Hyperuricemia, Transient aminoaciduria, Hype...	OMIM:229600
Infant Botulism	Hyponatremia, Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem...	ORPHA:276556
Orthostatic Hypotension 1	Neonatal hypoglycemia, Retrograde ejaculation, Reduced circulating prolactin concentration, High ...	OMIM:223360
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, High palate, Hypothyroidi...	OMIM:619750
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypophosphatemic rickets, Hypertension, Renal artery stenosis, Short st...	OMIM:208000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Hyperammonemia, Thrombocytopenia, ...	ORPHA:289916
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol level,...	OMIM:618838
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Cranioectodermal Dysplasia 1	Rhizomelia, Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chronic...	OMIM:218330
Netherton Syndrome	Short stature, Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Enterocolitis, Throm...	OMIM:616050
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH concentration, Hyperurice...	ORPHA:199299
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Adrenal ins...	ORPHA:75233
Lesch-Nyhan Syndrome	Hyperuricemia, Nephrolithiasis, Short stature, Nephrocalcinosis, Hyperuricosuria	OMIM:300322
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Postnatal growth retardation, Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypercalciuria, Hypomagnesemi...	ORPHA:2239
Glycogen Storage Disease Ic	Delayed puberty, Hematuria, Decreased glomerular filtration rate, Hyperuricemia, Spider hemangiom...	OMIM:232240
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Cardiac arrest, Hypotension, Hyperammonemia, 3-Methylglutaric aciduria, Dilated ca...	ORPHA:20
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:319487
Williams-Beuren Region Duplication Syndrome	Short stature, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:145981
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg...	OMIM:619064
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemic seizures, Prolonged QT interval, Elevated circulating creatine kinase concentration,...	ORPHA:480864
Methylmalonyl-Coa Epimerase Deficiency	Metabolic acidosis, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration,...	OMIM:251120
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me...	ORPHA:79084
Senior-Boichis Syndrome	Tubular luminal dilatation, Chronic kidney disease, Increased total bilirubin, Renal hypoplasia, ...	ORPHA:84081
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, ...	ORPHA:2169
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi...	OMIM:613812
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Cardiomyopat...	OMIM:619046
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:2394
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp...	OMIM:600740
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fr...	OMIM:611881
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Hypotension, Increased circulating procalc...	ORPHA:36238
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, S...	OMIM:608776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Joint contracture, Prolonged QT interval, Elevated circulating creatine kinase concentration	OMIM:615351
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ...	OMIM:252500
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Impaired glucose tolerance, Ventricular septal defec...	OMIM:615630
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Acute Liver Failure	Acute kidney injury, Alkalosis, Acidosis, Hyperammonemia	ORPHA:90062
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Intrauterine growth retardation, Hydronephrosis, Growth delay, Hypoplasia of penis	ORPHA:2083
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ...	OMIM:619418
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Anemia, Lymphadenopathy, Ileus, Decreased FOXP3-expressing T cell count, Hepatit...	OMIM:304790
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Severe postnatal growth retardation, Polycystic...	ORPHA:2237
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Bicuspid aortic valve, Cardiomegaly, Narrow ...	OMIM:300855
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Adrenal Hypoplasia, Congenital	Delayed puberty, Renal salt wasting, Adrenal hypoplasia, Precocious puberty, Hyponatremia, Absenc...	OMIM:300200
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre...	OMIM:610199
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux	OMIM:613735
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Serrated Polyposis Syndrome	Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Pros...	ORPHA:157798
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:79303
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Hydronephrosis	ORPHA:531151
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Necrotizing Enterocolitis	Shock, Abnormal glucose homeostasis, Bradycardia, Leukocytosis, Hypotension, Hyponatremia, Abnorm...	ORPHA:391673
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Tracheoesophageal fistula, Intestinal malrotation, Truncus arteriosus, ...	ORPHA:2538
Toluene Embryopathy	Short stature, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Hepatome...	OMIM:614921
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Cardiomyopathy, Hypoth...	OMIM:222300
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt...	OMIM:251110
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Hypotension	OMIM:615668
Hypophosphatemic Rickets And Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphate wasting...	OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia	OMIM:145980
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Increased bone mineral density, Ventr...	ORPHA:36913
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Tetrasomy 15Q26	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	OMIM:614846
Joubert Syndrome 37	Short stature, Hydronephrosis, Micropenis	OMIM:619185
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepati...	OMIM:616589
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Al Amyloidosis	Gastrointestinal hemorrhage, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly ...	ORPHA:85443
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension, Pseudohypoaldosteronism	OMIM:145260
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Pituitary Apoplexy	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul...	ORPHA:95613
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Postnatal growth retardation, Duplicated collecting system, Hyperammonemia, Hydronephrosis, Conju...	OMIM:617093
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Type II diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopat...	ORPHA:401923
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Smith-Magenis Syndrome	Hypertriglyceridemia, Delayed puberty, Renal hypoplasia/aplasia, Gastroesophageal reflux, Abnorma...	ORPHA:819
Aromatic L-Amino Acid Decarboxylase Deficiency	Short stature, Increased circulating prolactin concentration, Hypotension	ORPHA:35708
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia, Increased serum pyruvate, Organic aciduria, Hepatomegaly	OMIM:614741
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Panc...	ORPHA:77259
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:94090
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Abnormality of the thyroid gl...	ORPHA:77296
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Alagille Syndrome 1	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Cholestasis, Prolo...	OMIM:118450
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Methylmalonic acidemia, Cardiomyopathy, Failure to thrive, Hyperammonemia,...	OMIM:251000
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased fertility, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Ventricular...	OMIM:269700
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hypotension, Hypothyroidism, Hyponatremia, Pericarditis...	ORPHA:3452
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic trans...	OMIM:235555
Diabetes And Deafness, Maternally Inherited	Unsteady gait, Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Ileal Neuroendocrine Tumor	Hypotension, Small intestine carcinoid, Tricuspid stenosis, Pulmonic stenosis, Right ventricular ...	ORPHA:100078
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah...	ORPHA:480520
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiecta...	OMIM:235255
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Lympha...	OMIM:602782
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Congenital Erythropoietic Porphyria	Osteopenia, Scarring, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin lev...	ORPHA:79277
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Decreased circulating carnitine concentration, High palate, Abnormality of the live...	ORPHA:254864
Pseudohypoparathyroidism Type 1B	Hypocalcemic seizures, Prolonged QT interval, Diaphyseal sclerosis, Hypocalcemia, Increased bone ...	ORPHA:94089
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Intestinal ps...	ORPHA:1333
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Card...	OMIM:614702
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Hypertension, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism	ORPHA:93256
Primary Hyperoxaluria	Hematuria, Aciduria, Metabolic acidosis, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperox...	ORPHA:416
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the endocrine system, Abn...	ORPHA:37042
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Type I diab...	ORPHA:290
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h...	OMIM:617068
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary...	OMIM:619534
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Epistaxis, ...	ORPHA:99827
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Hepatomegaly, Abnormal aortic valve morph...	ORPHA:1194
22Q11.2 Duplication Syndrome	Growth delay, Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis	ORPHA:1727
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, H...	ORPHA:99812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Stevens-Johnson Syndrome	Hypokalemic metabolic alkalosis, Dysuria, Renal insufficiency, Abnormality of the urethra	ORPHA:36426
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c...	OMIM:500009
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoket...	ORPHA:228305
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ...	OMIM:226990
Barth Syndrome	Congestive heart failure, Hypochromic microcytic anemia, Endocardial fibroelastosis, Hypertrophic...	OMIM:302060
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Short stature, Hydronephrosis, A...	ORPHA:1834
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype...	OMIM:211900
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Aceruloplasminemia	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin...	ORPHA:48818
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hydronephrosis, Hypospadias	OMIM:220210
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Ascites, Pericarditis, Left ventricular ...	OMIM:619487
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Cutaneous Mastocytoma	Hypotension, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intestinal malrotation, Cleft palate,...	OMIM:613091
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chr...	ORPHA:97289
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Hypophosphatasia, Infantile	Disproportionate short-limb short stature, Hypercalciuria, Elevated plasma pyrophosphate, Elevate...	OMIM:241500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Neutropenia, Decreased proportion of class-switched memory B cell...	OMIM:619705
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric...	ORPHA:79403
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemic alkalosis	OMIM:202110
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Lactic acidosis, Increased circulating lactate concentration, Glycosuria, Elevated hemoglobin A1c...	OMIM:616539
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Short stature, Growth delay, Urethral valve, Hy...	ORPHA:261290
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Bronchial Neuroendocrine Tumor	Palpitations, Hypotension, Tricuspid regurgitation, Pulmonary carcinoid tumor, Facial telangiecta...	ORPHA:97287
Bardet-Biedl Syndrome 20	Pancreatitis, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, ...	OMIM:619471
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Hypotension, Hyperammonemia, Hypoalbuminemia	ORPHA:292
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:300842
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Growth delay, Hydronephrosis	ORPHA:488613
Microscopic Polyangiitis	Congestive heart failure, Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Vasculitis, Per...	ORPHA:727
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Decreased serum leptin, Ele...	ORPHA:435660
Glucocorticoid Resistance, Generalized	Metabolic alkalosis	OMIM:615962
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor...	ORPHA:100026
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Esophageal ...	OMIM:227646
Leptospirosis	Acute kidney injury, Hypotension, Retinal hemorrhage, Cellular urinary casts, Pericarditis, Arrhy...	ORPHA:509
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia	ORPHA:89937
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph...	OMIM:616100
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce...	OMIM:620501
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Cleft palate, Leukopenia, Splenomegaly, Lymphop...	OMIM:620210
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Hypertension, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, ...	ORPHA:91347
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Carcinoid tumor, Atypical pu...	ORPHA:100080
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Adrenal hypoplasia, Median cleft palate, Microphallus, Hyperechogen...	OMIM:612651
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card...	ORPHA:263297
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy, Hypothyr...	ORPHA:254913
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin...	ORPHA:79085
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport...	ORPHA:98850
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate	ORPHA:760
Noonan Syndrome 12	Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventricular septal defect, Supravalvular aort...	OMIM:618624
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia...	OMIM:226300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Elevated circulating creatine k...	OMIM:301056
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Kury-Isidor Syndrome	Growth delay, Hydronephrosis	OMIM:619762
Diabetic Embryopathy	Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis	ORPHA:1926
Isolated Biliary Atresia	Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he...	ORPHA:30391
Trisomy 13	Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Aneurysm Of Sinus Of Valsalva	Congestive heart failure, Aortic regurgitation, Dilatation of the sinus of Valsalva, Heart murmur...	ORPHA:1054
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Nipah Virus Disease	Hypotension	ORPHA:99825
Congenital Disorder Of Glycosylation, Type Iig	Postnatal growth retardation, Hemolytic-uremic syndrome, Hypospadias, Rhizomelia, Short stature, ...	OMIM:611209
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Renal hypoplasia, Hydronephrosis, Unilateral renal agenesis	OMIM:618494
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micropenis, Cryptorchidism...	OMIM:613861
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Hypertensive crisis, Pulmonary arterial hypertension, Telangiectasia of...	ORPHA:220393
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Clitoral hypertrophy, Elevated c...	OMIM:608594
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Gastroesophageal reflux, Increased blood urea nitrogen, Abnormal renal phys...	OMIM:223900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopath...	ORPHA:91138
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Hypokalemia	OMIM:175500
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Carcinoid tumor, Atypical pu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Carcinoid tumor, Atypical pu...	ORPHA:100082
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Hy...	OMIM:618440
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Biliary Atresia, Extrahepatic	Cirrhosis, Hepatomegaly, Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he...	ORPHA:2137
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Hypospadias, Ovotestis, ...	OMIM:610644
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Dysphagia, Gastrointestinal dysmotility, Cardiomegal...	ORPHA:391428
Mandibuloacral Dysplasia	Hypertriglyceridemia, Hyperinsulinemia, Abnormal tongue morphology, High palate, Insulin resistan...	ORPHA:2457
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Short stature, Urolit...	OMIM:300661
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hypophosphatemia, Abnormal circ...	OMIM:307800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cryptorchidism, Ventricular septal defect, Cystic renal dysplasia	OMIM:613730
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Perry Syndrome	Hypotension	ORPHA:178509
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Myoglobinuria, Polycys...	ORPHA:157
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Tr...	ORPHA:156
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo...	OMIM:618858
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d...	OMIM:214110
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated c...	OMIM:617713
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Ataxia-Telangiectasia	Gait disturbance, Failure to thrive, Ataxia, Type II diabetes mellitus, Telangiectasia of the ski...	ORPHA:100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Male hypogonadism, Elevated circulating hepatic transaminase ...	OMIM:615381
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea...	ORPHA:481
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating hepatic transa...	OMIM:620138
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Galactose Mutarotase Deficiency	Decreased liver function, Hypergalactosemia, Cholestasis, Hepatomegaly	ORPHA:570422
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Polycystic kidney dy...	ORPHA:84064
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Hepa...	ORPHA:79086
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Growth delay, Hydronephrosis, Decreased serum zinc, Intrauterine gr...	ORPHA:541423
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Prader-Willi Syndrome	Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Hyperinsulinemia,...	OMIM:176270
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Dyspha...	ORPHA:64753
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Hyperammonemia, Secundum atrial sept...	OMIM:620609
Friedreich Ataxia	Limb ataxia, Congestive heart failure, Hypertrophic cardiomyopathy, Gait ataxia, Ataxia, Diabetes...	OMIM:229300
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Abnormal circulating thyroglobulin concentration, Pi...	ORPHA:90674
Duplication Of Urethra	Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf...	ORPHA:237
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hyp...	OMIM:618641
Amyloidosis, Finnish Type	Orthostatic hypotension, Decreased heart rate variability, Cardiomyopathy, Nephrotic syndrome, Ur...	OMIM:105120
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreas...	ORPHA:435651
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Intrauterine growth retardation, Hydronep...	ORPHA:314588
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Abnormal renal physiology, Cardiomegaly, Nephropathy	ORPHA:85447
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Severe short stature, Hypophosphatemia, Hype...	OMIM:156400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, Impaired glucose tolerance, High pala...	OMIM:248370
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Adult Acute Respiratory Distress Syndrome	Diabetic ketoacidosis, Vasculitis, Hypotension, Shock	ORPHA:70578
Mpi-Cdg	Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing enteropathy, ...	ORPHA:79319
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:26791
Non-Functioning Pituitary Adenoma	Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease...	ORPHA:91349
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly...	OMIM:618885
Mesomelia-Synostoses Syndrome	Short stature, Hydronephrosis	ORPHA:2496
American Trypanosomiasis	Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ...	ORPHA:3386
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Proximal renal tubular acidosis, Hypogly...	OMIM:266150
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:154275
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa...	OMIM:614859
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion...	OMIM:614700
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Meckel diverticulum, Cardiomyopathy, Pulmonic stenosis, Intestinal malrotation, ...	OMIM:312870
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ...	ORPHA:293978
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Johanson-Blizzard Syndrome	Hypospadias, Hypoplasia of penis, Hypoproteinemia, Short stature, Hydronephrosis, Intrauterine gr...	ORPHA:2315
Fliedner-Zweier Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis	OMIM:620511
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan...	OMIM:615688
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Congenital hydrocele, ...	OMIM:620376
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Microglossia, Cardiomegaly,...	OMIM:253250
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Intestinal h...	OMIM:601346
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,...	ORPHA:158684
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Hydronephrosis, Micropenis, Hypospadias	OMIM:616897
Myopathy With Extrapyramidal Signs	Hypervalinemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated c...	OMIM:615673
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Hepatomegaly, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanin...	OMIM:261680
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat...	ORPHA:79332
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Myocarditis, Hypocalcemia, Anuria, Nephrotic range proteinuria...	ORPHA:544482
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Esophagitis, Secundu...	OMIM:612562
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatos...	OMIM:619573
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Tu...	ORPHA:488627
Igg4-Related Aortitis	Hydronephrosis, Elevated circulating C-reactive protein concentration	ORPHA:449400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:14
Melnick-Needles Syndrome	Short stature, Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:154276
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ...	ORPHA:1686
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge...	OMIM:606176
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Orthostatic hypotension, Hypertension, Pulmonary arterial hyperte...	OMIM:606721
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Mirage Syndrome	Hyperkalemia, Hypospadias, Recurrent urinary tract infections, Microphallus, Short stature, Hypon...	OMIM:617053
Classic Galactosemia	Delayed puberty, Premature ovarian insufficiency, Jaundice, Hepatomegaly, Elevated circulating he...	ORPHA:79239
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Erythrocytosis, Familial, 2	Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension, Elevated circulating erythropo...	OMIM:263400
Micro Syndrome	Delayed puberty, Hypoplasia of penis, Short stature, Hydronephrosis, Abnormal localization of kid...	ORPHA:2510
Zaki Syndrome	Renal agenesis, Hydronephrosis, Short stature	OMIM:619648
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Palpitations, Hypotension, Tricuspid regurgitation, Atypical pulmonary carci...	ORPHA:100075
Sneddon Syndrome	Ischemic stroke, Atrophic scars, Hypertension, Cerebral hemorrhage, Lymphopenia, Bicuspid aortic ...	OMIM:182410
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Hydronephrosis, Micropenis	ORPHA:364028
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Cholestasis, Biliary cir...	OMIM:267010
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Progressive cerebellar ataxia, Abnormal EKG, Progressive gait ataxia	ORPHA:1177
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Congenital Myopathy 8	Cardiomegaly, High palate	OMIM:618654
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Systemic Lupus Erythematosus 17	Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune th...	OMIM:301080
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Decreased ...	OMIM:615238
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,...	ORPHA:562
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, High nonceruloplasmin-b...	OMIM:277900
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Trichohepatoenteric Syndrome 1	Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Bifid uvula, Splenomegaly, Jaundice, H...	OMIM:222470
Branchio-Oculo-Facial Syndrome	Renal agenesis, Short stature, Hydronephrosis, Intrauterine growth retardation, Multicystic kidne...	ORPHA:1297
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Leukopenia, Abn...	ORPHA:2298
Intellectual Disability, Buenos-Aires Type	Short stature, Hydronephrosis	ORPHA:3079
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Anemia, Dextrocardia, Hyperhomocystinemia, Cystathioninuria...	OMIM:277380
Chromosome 2P16.1-P15 Deletion Syndrome	Postnatal growth retardation, Short stature, Hydronephrosis, Intrauterine growth retardation, Mic...	OMIM:612513
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent infec...	OMIM:613489
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Congenital nephro...	OMIM:256300
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v...	ORPHA:330001
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Hydronephrosis	OMIM:620327
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Short stature, Growth delay, Intrauterine growth retardation...	OMIM:617140
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Inability to walk, Reduced left ventricular ejection fraction, Right bundle branch ...	ORPHA:268
Hawkinsinuria	Hawkinsinuria, Metabolic acidosis, Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyph...	OMIM:140350
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Hyperlipidemia,...	ORPHA:565612
Vacterl/Vater Association	Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis, Intrauterine gr...	ORPHA:887
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:131
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Short stature, Nephritis, Hydronephrosis, Renal...	ORPHA:391641
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ...	OMIM:616329
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, T lymphocytopenia, ...	OMIM:606367
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria, Hypouricemia	OMIM:242050
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transamin...	OMIM:260400
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ...	OMIM:618849
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab...	ORPHA:1055
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Pure Autonomic Failure	Urinary incontinence, Abnormality of circulating catecholamine level, Orthostatic hypotension, Dy...	ORPHA:441
Pseudomyxoma Peritonei	Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of...	ORPHA:26790
Autosomal Recessive Hypophosphatemic Rickets	Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hyperphosphaturia, Growth delay...	ORPHA:289176
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
ERI1-related disease	Intrauterine growth retardation, Hydronephrosis, Short stature, Vesicoureteral reflux	OMIM:608739
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Metabolic acidosis, Increased circulating lactate concentration, Increased total bi...	OMIM:618528
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Systemic Sclerosis	Pericarditis, Dysphagia, Intestinal bleeding, Abnormal small intestine morphology, Myocarditis, A...	ORPHA:90291
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:605911
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Hydronephrosis	OMIM:619179
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi...	OMIM:614162
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Short stature, Hydronephrosis, Growth delay	ORPHA:457193
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Splenomegaly, Type II diabetes mellitus, Type I diabetes...	ORPHA:1133
Myasthenia Gravis	Glycosuria, Hashimoto thyroiditis, Primary adrenal insufficiency, Hyperthyroidism, Abnormal thymu...	ORPHA:589
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Anemia, Inguinal hernia, Broad-based gait, Dysdiadochok...	OMIM:616541
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Alkaptonuria	Decreased glomerular filtration rate, Aortic aneurysm, Nephrolithiasis, Dark urine, Elevated urin...	OMIM:203500
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Elevated circulating creatine concentration, Broad-based gait, Gait distur...	OMIM:300352
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Dextrocardia	Situs inversus totalis, Dextrocardia, Meckel diverticulum, Abnormal renal morphology, Pancreatic ...	ORPHA:1666
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Enamel-Renal Syndrome	Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure...	ORPHA:1031
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal esophagus morphology, Abnormal pericardium morphology, A...	ORPHA:2357
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein conce...	ORPHA:50918
Q Fever	Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Elevated circulating hepatic trans...	ORPHA:781
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestinal malrotation...	OMIM:265380
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Short stature, Hyperphosphaturia, Growth delay, Horseshoe kidney	OMIM:163200
3C Syndrome	Postnatal growth retardation, Hypospadias, Hypoplasia of penis, Short stature, Hydronephrosis	ORPHA:7
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Short stature, Growth delay, Hydronephrosis, Ab...	ORPHA:1225
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Increased mean corpuscular volume, M...	OMIM:277410
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Short stature, Renal duplication, Hydro...	ORPHA:96169
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Pr...	OMIM:175200
Muckle-Wells Syndrome	Delayed puberty, Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Renal amyloidosis, Nephr...	ORPHA:575
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Hyperalaninemia, Hypertrophic cardiomyopathy, Elevated circul...	OMIM:614582
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Kleefstra Syndrome	Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Short stature, Hydronephrosi...	ORPHA:261494
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Bardet-Biedl Syndrome 1	Abnormality of the kidney, High, narrow palate, Aganglionic megacolon, High palate, Abnormality o...	OMIM:209900
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Hydronephrosis, Severe postnatal growth retardation	ORPHA:35173
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Hyperkalemia, Elevated serum 11-deoxycortiso...	OMIM:201750
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Growth delay, Hydronephrosis, Proportionate short stature, Moderate albuminuria	OMIM:619269
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Crohn's disease, Leukocytosi...	OMIM:249100
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Premature ova...	OMIM:212065
Congenital Sialidosis Type 2	Inguinal hernia, Abnormal heart morphology, Hepatosplenomegaly, Ataxia, Umbilical hernia, Abnorma...	ORPHA:93400
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Noonan Syndrome 4	Short stature, Ureteral duplication, Hydronephrosis	OMIM:610733
Atrial Standstill 2	Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Dilatation of th...	OMIM:615745
Transketolase Deficiency	Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Secondary amenorrhea, Ele...	ORPHA:488618
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Jaundice, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:309854
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Impotence, Increased urinary N-acetylglucosamine-rich oligosa...	OMIM:268800
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tra...	ORPHA:500095
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Hydronephrosis, Congenital megaureter	ORPHA:2437
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Prostati...	ORPHA:449432
Rett Syndrome	Prolonged QTc interval, Truncal ataxia, Cachexia, Gait apraxia, Gait ataxia, Abnormal T-wave	OMIM:312750
Diamond-Blackfan Anemia	Normochromic anemia, Macrocytic dyserythropoietic anemia, Abnormal heart morphology, Leukopenia, ...	ORPHA:124
Congenital Aortic Valve Stenosis	Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ...	ORPHA:3093
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Autosomal Recessive Spastic Paraplegia Type 20	Short stature, Dysuria, Hydronephrosis, Growth delay	ORPHA:101000
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Accessory spleen, Pancreatic cysts, Furrowed tongue...	ORPHA:564
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration, Dysp...	OMIM:313200
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Hematuria, Lymphadenopathy, Abnormality of the urinary...	ORPHA:93552
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis, Hydrocele testis	OMIM:618810
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secretion, High pal...	ORPHA:79330
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hypokalemia, Prominent U wave, Prolonged QTc interval, Short stature, Hype...	OMIM:170390
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Short stature, Hydronephrosis	ORPHA:568
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Renal Nutcracker Syndrome	Hematuria, Orthostatic hypotension, Tachycardia, Renal artery stenosis, Microscopic hematuria, Pr...	ORPHA:71273
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Cleft pa...	OMIM:612541
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Fryns Syndrome	Ureteral duplication, Aganglionic megacolon, Hypospadias, Esophageal atresia, Meckel diverticulum...	OMIM:229850
Alveolar Echinococcosis	Decreased liver function, Abnormal adrenal morphology, Jaundice, Anemia, Cholangitis, Liver absce...	ORPHA:284
Yellow Fever	Hematemesis, Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Eleva...	ORPHA:99829
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Elevated circulating creatine ...	OMIM:619424
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Rhizomelia, Hydronephrosis, Elevated 8(9)-cholestenol, Elevated 8-d...	OMIM:302960
Brucellosis	Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Myocarditis, Thrombocytosis, Leukocyt...	ORPHA:1304
Trisomy 1Q	Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter	ORPHA:261344
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Prolidase Deficiency	Hepatomegaly, Anemia, High palate, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocy...	OMIM:170100
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Elevated ...	OMIM:300257
Structural Heart Defects And Renal Anomalies Syndrome	Atrial septal defect, Tricuspid atresia, Truncus arteriosus, Renal cyst, Tetralogy of Fallot, Par...	OMIM:617478
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Decreased response to growth hormone stimulation test, High, narrow palate, Gast...	OMIM:615873
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Increased circulating deh...	OMIM:201810
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Prolactinoma	Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy...	ORPHA:2965
Zellweger Syndrome	Short stature, Hydronephrosis, Multicystic kidney dysplasia, Hypospadias	ORPHA:912
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hydronephrosis, Short stature, Growth delay	ORPHA:1358
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, High palate, Exocrine panc...	OMIM:617941
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Elevated circulating...	OMIM:266510
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Oncogenic Osteomalacia	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting	ORPHA:352540
Pfeiffer Syndrome Type 3	Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	ORPHA:93260
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Vesicoureteral reflux, Hydronephrosis, Hypoalbuminemia, Mild postnatal growth ret...	OMIM:235510
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Macroglossia, Int...	ORPHA:3376
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Lassa Fever	Oliguria, Shock	ORPHA:99824
Microphthalmia, Syndromic 9	Pelvic kidney, Short stature, Renal hypoplasia, Hydronephrosis, Severe short stature, Intrauterin...	OMIM:601186
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Second...	ORPHA:280365
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Gastr...	OMIM:608779
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,...	ORPHA:96179
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Somatostatinoma	Intestinal obstruction, Steatorrhea, Neoplasm of the pancreas, Gastrointestinal hemorrhage, Ascit...	ORPHA:97283
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Megacystis, Hydronephrosis, Hydroureter	OMIM:619431
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi...	ORPHA:456312
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Anal canal squamous cell carcinoma, Neoplasm of ...	ORPHA:424019
Lead Poisoning	Abnormal T cell morphology, Delayed puberty, Decreased HDL cholesterol concentration, Anemia, Dec...	ORPHA:330015
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Intraalveolar phospholipid accumulation, Cholestasis, Elevated c...	OMIM:615486
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Thoracic aortic aneurysm, Anuria, Fetal ...	OMIM:619351
Refsum Disease, Classic	Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal physiology, Card...	OMIM:266500
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hypertension...	OMIM:615812
Diabetes Mellitus, Transient Neonatal, 3	Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ...	OMIM:610582
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Increased level of hippuric acid in urine, Hepatomegaly, Anemia, Hyperuricemia...	OMIM:246450
Pelvis-Shoulder Dysplasia	Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb shortening, Hydronep...	ORPHA:2839
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Multiple bladder diverticula, Proteinuria, Heart murmur, Intrauteri...	ORPHA:2728
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	OMIM:203800
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine deoxypyridinoline level, Short ...	OMIM:239000
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Short stature, Renal h...	OMIM:614527
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcin...	OMIM:300755
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Oral leukoplakia, Testicu...	OMIM:613987
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Ascites, Leu...	ORPHA:342
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid ...	OMIM:222700
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Pelvic kidney, Vesicoureteral reflux, Short stature, Hydronephrosis, Crossed fused r...	OMIM:300707
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Increased total iron binding capacity, Hepatomegaly, Elevate...	OMIM:613280
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Pancreatic cysts, Renal cyst, Polycystic liver disease, Bile duct proliferation, Nephri...	OMIM:208500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Lymphopenia	ORPHA:277
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Liver Failure, Infantile, Transient	Dicarboxylic aciduria, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circula...	OMIM:613070
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Cat Eye Syndrome	Vesicoureteral reflux, Renal agenesis, Short stature, Hydronephrosis, Horseshoe kidney	OMIM:115470
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Intrauterine growth retardation, Hydronephrosis, Postnatal growth retardation	ORPHA:254528
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, High palate, Abnormality of the hypothalamus-pit...	ORPHA:251066
Vipoma	Neoplasm of the pancreas, Normochromic anemia, Ascites, Abnormal gastrointestinal motility, Pitui...	ORPHA:97282
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Osteopetrosis With Renal Tubular Acidosis	Metabolic acidosis, Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Elevated circulating c...	ORPHA:2785
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Short stature, Hydrone...	ORPHA:2473
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Short stature, Hydronephrosis, Severe intrauterine growth retardation, Vesicoureteral reflux	OMIM:620663
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Macrocephaly/Autism Syndrome	Hepatomegaly, High palate, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Hypospadias, High palate, Cryptorchidism, Microcytic anemia	ORPHA:98791
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Vesicoureteral reflux, Renal cyst, Short stature, Renal hypoplasia, Hydrone...	OMIM:618460
Mosaic Trisomy 8	Short stature, Hydronephrosis, Vesicoureteral reflux	ORPHA:96061
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Dysphagia, Car...	OMIM:608013
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Elevated circulating hepatic transa...	OMIM:214950
Distal Deletion 12Q	Annular pancreas, Maturity-onset diabetes of the young, High, narrow palate, Ectopic kidney, Bili...	ORPHA:96149
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Intestinal pseudo-obstruction, Impotence...	ORPHA:273
Duane-Radial Ray Syndrome	Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis, Crossed fused renal ecto...	OMIM:607323
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Argininemia	Hepatomegaly, Oroticaciduria, Portal fibrosis, Reduced erythrocyte arginase activity, Cholestasis...	OMIM:207800
Hoxha-Aliu Syndrome	Hydronephrosis, Vesicoureteral reflux	OMIM:620662
Dpagt1-Cdg	Akinesia, Anemia, Inability to walk, Prolonged QT interval, Camptodactyly, Osteoporosis, Failure ...	ORPHA:86309
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Red...	ORPHA:60
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Hydronephrosis, Micropenis	OMIM:617798
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Ventricular hypertrophy, Mitral valve calcification, Aortic valve stenosis,...	ORPHA:363618
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Ly...	ORPHA:486
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Exocrine pancrea...	OMIM:616263
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Abnormal tricuspid valve morphology, Ascite...	ORPHA:90308
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Hepatomegaly, Neutropenia, Myoglobinuria, Elevated circulating creat...	OMIM:251900
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Genitopatellar Syndrome	Short stature, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Tarp Syndrome	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	OMIM:311900
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Elevated circulating C-reactive protein concentration, Increased proportion of CD4-...	OMIM:617099
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Aganglionic megacolon, Anemia, Gastroesophageal reflux, Hypoplasia of ...	ORPHA:847
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ...	ORPHA:79404
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Reduced bone mineral density, Hypocalce...	ORPHA:79443
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria, Gastroesophageal reflux	ORPHA:3137
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, El...	ORPHA:308552
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Hydronephrosis, Short stature, Vesicoureteral reflux	ORPHA:250989
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:167
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias...	OMIM:614866
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc, Decrea...	OMIM:201100
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Anemia, Generalized lymphadenopathy, Pancytopenia, Hypertrophic cardio...	OMIM:615846
Papa Syndrome	Lymphadenopathy, Type I diabetes mellitus, Proteinuria, Crohn's disease	ORPHA:69126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis, Renal dysplasia...	OMIM:614080
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,...	ORPHA:39812
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Elevated circulating long chain fatty acid concentration, Renal cortical microcysts,...	OMIM:214100
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren...	OMIM:614748
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal...	ORPHA:261318
Dyskeratosis Congenita	Abnormality of neutrophils, Neoplasm of the pancreas, Cirrhosis, Hepatomegaly, Anemia, Anorectal ...	ORPHA:1775
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of ...	ORPHA:33276
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis, Hepatic artery hyperplasia,...	OMIM:619433
Feingold Syndrome	Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia	ORPHA:1305
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Hennekam-Beemer Syndrome	Hypotension, Telangiectasia of the skin, Short stature, Arrhythmia	ORPHA:2135
Carpenter Syndrome 1	Short stature, Hydronephrosis, Hydroureter	OMIM:201000
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Methylmalonic acidemia, Neutropeni...	OMIM:251100
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Enuresis nocturna, Vesico...	OMIM:301111
Glucagonoma	Intestinal obstruction, Steatorrhea, Neoplasm of the pancreas, Gastrointestinal hemorrhage, Normo...	ORPHA:97280
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Intestinal malrotation, Duodenal...	ORPHA:1759
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus	OMIM:620365
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca...	OMIM:608612
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Enterocolit...	ORPHA:2686
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Hypospadias	OMIM:616449
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Abno...	ORPHA:33226
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Cellulitis, Neutrophilia	OMIM:266265
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Lymphadenop...	ORPHA:635
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin...	OMIM:250790
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Visceral Myopathy 1	Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis	OMIM:155310
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney, Nephrolithiasis	ORPHA:2953
Mosaic Trisomy 9	Hypoplasia of penis, Intrauterine growth retardation, Hydronephrosis, Multiple renal cysts, Renal...	ORPHA:99776
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, Hypospadias, Renal agenesis, Growth delay, Hydronephrosis, Micropenis	OMIM:301040
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased H...	OMIM:256040
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly, Spherocytosis	ORPHA:66518
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Short stature, Hydronephrosis, Intraut...	OMIM:610443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis	OMIM:615398
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splenomegaly, Smal...	OMIM:270400
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, High palate, Nephrotic syndrome, Prolonged ne...	ORPHA:499009
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Anemia, Panniculitis, B lymphocytopenia, Noncompaction cardiomyopathy, ...	ORPHA:508542
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein thrombosis, Pulmoni...	OMIM:616028
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea,...	ORPHA:2795
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Elevated circulating C-reactive protein concentration, L...	ORPHA:32960
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology...	ORPHA:1606
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria,...	ORPHA:77297
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Hypokalemia	OMIM:174900
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, High palate, Cryptorchidism, Thrombocytopenia, Dysphagia, Dila...	ORPHA:261250
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Increased bone mineral de...	ORPHA:79444
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
15Q Overgrowth Syndrome	Abnormal renal morphology, Intrauterine growth retardation, Hydronephrosis, Nephroblastoma, Urete...	ORPHA:314585
2P15P16.1 Microdeletion Syndrome	Intrauterine growth retardation, Hydronephrosis, Multicystic kidney dysplasia, Growth delay	ORPHA:261349
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Thakker-Donnai Syndrome	Intrauterine growth retardation, Hydronephrosis	ORPHA:1780
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Abnormal intestine morphology, Cleft palate, Multiple...	ORPHA:1318
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly	ORPHA:349
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Short stature, Hydronephrosis, Intrauterine growth retardation	OMIM:300712
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Gastrointestinal stroma...	ORPHA:1572
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Teebi-Shaltout Syndrome	Short stature, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Cleft palate, Hepatic fibrosis, Multicystic kidney dysplas...	OMIM:607361
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, T lymphocytopenia, Cellulitis, Leukopenia, Hepatosplenomegaly, L...	OMIM:618986
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Renal cyst, Microphallus, Short stature, Renal hypoplasia, Hydronephrosis	OMIM:618454
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation, Increased serum pyruvate, Gait disturbance, Ataxia, Limb dysmetria, Dysmetria	ORPHA:94125
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Prolonged QT interval, Inguinal hernia, Ca...	ORPHA:373
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Asymmetric septal hypertrophy, Dysphagia, Splenomegaly, Heparan sulfate excretion i...	OMIM:252930
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Patent foramen ovale, Secundum atrial septal defect, Lymphopenia, Ne...	OMIM:614868
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Hyperphosphatasia-Intellectual Disability Syndrome	Growth delay, Hydronephrosis	ORPHA:247262
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Pallister-Hall Syndrome	Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Short stature, Renal hypopl...	OMIM:146510
Neuhauser Syndrome	Primary hypothyroidism, High palate, Bifid uvula, Dysphagia, Hypercholesterolemia	OMIM:249310
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Fryns Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux	ORPHA:2059
Hereditary Orotic Aciduria	Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hepatomegaly, Generalized ...	ORPHA:289157
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Jacobsen Syndrome	Annular pancreas, Duodenal atresia, Ectopic anus, Cryptorchidism, Aortic valve stenosis, Bone mar...	ORPHA:2308
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Glucose intolerance, Inability to walk, Dysdiadochokinesis, Hypopl...	OMIM:208900
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Enlarged ...	ORPHA:744
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co...	ORPHA:33402
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas...	ORPHA:91500
Bohring-Opitz Syndrome	Narrow palate, Hyperechogenic pancreas, Gastroesophageal reflux, Bilateral cleft palate, Vesicour...	OMIM:605039
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc...	ORPHA:797
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Mitral valv...	ORPHA:324410
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Villous atrophy, Chronic hepatitis, Decreased circulating iron concentra...	OMIM:614602
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Pyloric stenosis, Ventricular septal defect, Horseshoe kidney	OMIM:218350
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin 1, Elevated cir...	OMIM:263700
Baraitser-Winter Cerebrofrontofacial Syndrome	Growth delay, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract	ORPHA:2995
Congenital Myopathy 17	Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction	OMIM:618975
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Erdheim-Chester Disease	Dysuria, Renal insufficiency, Hydronephrosis	ORPHA:35687
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop...	ORPHA:90362
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco...	ORPHA:100079
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Ascites, Pyloric stenosis, Pericardial effusion, L...	ORPHA:2136
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hydronephrosis, Hypospadias	OMIM:616737
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Ventricular septal defect, Persistence of hemoglobin F, Atrial septal de...	OMIM:619769
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Hydronephrosis, Short stature	OMIM:300968
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas...	ORPHA:348
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Alexander Disease	Hypertension, Hypotension, Hypothyroidism, Precocious puberty, Diabetes mellitus, Sudden cardiac ...	ORPHA:58
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, High palate, Hypercholesterolemia	ORPHA:2479
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, High palate, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria	OMIM:619053
Poliomyelitis	Hypovolemic shock, Hypertension, Hypotension	ORPHA:2912
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Gastrointestinal atresia, Esophageal atresia, Accessory sple...	OMIM:164280
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Acute Promyelocytic Leukemia	Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Met...	ORPHA:520
Cockayne Syndrome Type 3	Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Mil...	ORPHA:90324
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Recurrent urinary tract infections, Decreased proportion of naive T...	ORPHA:83471
Campomelic Dysplasia	Short stature, Hydronephrosis	ORPHA:140
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Osteopenia, Anemia, Pancytopenia, Hypertension, Waddling gait, Cerebr...	OMIM:242900
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Oral leukoplakia, Testicular a...	OMIM:618165
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Card...	ORPHA:98907
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Hydronephrosis, Micropenis	ORPHA:96092
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,...	OMIM:275350
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Hypertension, Hyperlipidemia, Precocious atherosclerosis, Peripheral ...	ORPHA:391665
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Male infertility, Ileus, Hypercalciuria, Rect...	OMIM:219700
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia...	ORPHA:980
Granulomatosis With Polyangiitis	Glomerulopathy, Hematuria, Elevated circulating C-reactive protein concentration, Ureteral stenos...	ORPHA:900
Raine Syndrome	Short stature, Hydronephrosis, Hydroureter, Hypophosphatemia	OMIM:259775
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Postnatal growth retardation, Hypercholesterole...	OMIM:309000
Jacobsen Syndrome	Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchidism, Pyloric st...	OMIM:147791
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Polycystic kidney dysplasia, Pancreatic fibrosis, Intestinal malrotation, C...	OMIM:263520
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Familial Pseudohyperkalemia	Hyperkalemia, Hypertension	ORPHA:90044
Vater/Vacterl Association	Postnatal growth retardation, Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis,...	OMIM:192350
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Hypocalcemia, Sialadenitis, Thyroiditis, Abnormal pitui...	ORPHA:64744
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Trisomy 8P	Annular pancreas, Abnormal left ventricle morphology, Dysplastic aortic valve, Nephrocalcinosis, ...	ORPHA:264450
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Anemia, Abnormal proportion of naive CD4 T cells, Hype...	ORPHA:1830
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Intrauterine g...	ORPHA:464311
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Dysphagia, Pa...	ORPHA:355
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein...	OMIM:619381
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Jaundice, Dicarboxylic aciduria, ...	OMIM:614887
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin...	OMIM:261515
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, ...	ORPHA:77261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Intrauterine growth retardation, Abnormal bladder morphology, Hydronephrosis, Vesicoureteral reflux	ORPHA:453499
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Sweet Syndrome	Small vessel vasculitis, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein ...	ORPHA:3243
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary...	ORPHA:97278
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic an...	OMIM:619488
Penile Agenesis	Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ...	ORPHA:49
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Renal cyst	OMIM:614862
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Atelosteogenesis Type I	Cleft palate, Abnormal pancreatic duct morphology, Multiple renal cysts, Malrotation of colon	ORPHA:1190
Disabling Pansclerotic Morphea Of Childhood	Joint contracture, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia	OMIM:620443
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Elevated circulating hepatic transaminase concentration, Renal insuffic...	ORPHA:261265
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Nodular goiter, Dysphag...	ORPHA:142
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem...	OMIM:259720
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Short stature, Hydronephrosis, Mild intrauterine growth retardation, E...	OMIM:308050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Short stature, Hydronephrosis, Micropenis	ORPHA:163979
Hypercholesterolemia, Familial, 3	Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:603776
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp...	ORPHA:779
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Severe short stature, Infancy onset short-tru...	ORPHA:444072
Biotinidase Deficiency	Hyperammonemia, Hepatomegaly, Organic aciduria, Splenomegaly	OMIM:253260
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased B cell count, Increased T cell ...	ORPHA:98813
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, Hydronephrosis, Micropenis, Vesicoureteral reflux	OMIM:618653
Lethal Congenital Contracture Syndrome 10	Narrow palate, High palate, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular...	OMIM:617022
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Stea...	OMIM:613471
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept...	OMIM:243800
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Reni Syndrome	Hypertriglyceridemia, Ataxia, Lymphopenia, Hypoalbuminemia, Hypoglycemia	OMIM:617575
Myotonic Dystrophy 1	Hypogonadism, Dysphagia, Testicular atrophy, Cholelithiasis	OMIM:160900
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Metachromatic Leukodystrophy	Abnormal stomach morphology, Urinary incontinence, Hemobilia, Abnormal duodenum morphology, Neopl...	ORPHA:512
Atypical Werner Syndrome	Delayed puberty, Hypertriglyceridemia, Hypertension, Aortic valve stenosis, Hypogonadism, Periphe...	ORPHA:79474
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Gastroesophageal reflux, Hilar lymph node enlargement,...	OMIM:620233
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Short s...	ORPHA:2322
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Short stature, Hydronephrosis,...	ORPHA:464306
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Congenital pyloric atresia	ORPHA:2617
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Goodpasture Syndrome	Anemia, Glomerular crescent formation, Renal insufficiency, Increased blood urea nitrogen, Protei...	OMIM:233450
Marden-Walker Syndrome	High, narrow palate, Dextrocardia, Hypospadias, High palate, Pyloric stenosis, Renal hypoplasia, ...	OMIM:248700
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Thyroid Lymphoma	Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dysphagia, Goiter	ORPHA:97285
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c...	OMIM:167800
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Hyperinsulinemia, Prolonged QT interval, Reduced bone mineral density, Hypertension, ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Hyperinsulinemia, Prolonged QT interval, Reduced bone mineral density, Hypertension, ...	ORPHA:99228
Monosomy X	Osteopenia, Hyperinsulinemia, Prolonged QT interval, Reduced bone mineral density, Hypertension, ...	ORPHA:99226
Turner Syndrome	Osteopenia, Hyperinsulinemia, Prolonged QT interval, Reduced bone mineral density, Hypertension, ...	ORPHA:881
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho...	ORPHA:2978
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Gr...	OMIM:304150
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Cousin Syndrome	Disproportionate short stature, Hydronephrosis, Rhizomelia	OMIM:260660
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve...	ORPHA:363705
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Intestinal malrotation, Splenomegaly, Cystic renal dysplasia, Abnormal...	OMIM:249000
3Mc Syndrome 1	Growth delay, Hydronephrosis, Postnatal growth retardation	OMIM:257920
Multiple Endocrine Neoplasia Type 2	Elevated urinary vanillylmandelic acid, Pheochromocytoma, Elevated urinary epinephrine level, Par...	ORPHA:653
Opsismodysplasia	Disproportionate short-limb short stature, Rhizomelia, Hypophosphatemia, Renal phosphate wasting	OMIM:258480
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Au-Kline Syndrome	Dilatation of the renal pelvis, Chronic kidney disease, Hydronephrosis, Vesicoureteral reflux	OMIM:616580
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Renal a...	ORPHA:247768
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Trisomy 18	Abnormality of the upper urinary tract, Growth delay, Short stature, Hydronephrosis, Intrauterine...	ORPHA:3380
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Patent foramen ovale, Hypoplastic nipples, Ascites, Median cle...	OMIM:269860
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Elevated circulating C-reactive protein concentration, Neutrophilia, Spl...	OMIM:612852
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Abnorm...	ORPHA:538
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Congestive heart failure, Osteopenia, B lymphocytopenia, Neutropenia...	ORPHA:391487
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c	OMIM:609812
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Umbilical hernia, ...	OMIM:617237
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Eec Syndrome	Renal hypoplasia/aplasia, Hypospadias, Vesicoureteral reflux, Short stature, Hydronephrosis, Uret...	ORPHA:1896
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Gastroesophageal r...	OMIM:619525
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Frontometaphyseal Dysplasia 1	Hydronephrosis, Hydroureter	OMIM:305620
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Grange Syndrome	Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis, Coronary artery stenosis	OMIM:602531
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Pheochromocytoma, Impaired glucose tolerance, Adrenal hyperplasia, Pulmo...	ORPHA:99889
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pulmonary arterial hypertension, Prolonged QT interval, Flexion contracture, Camptodactyly	OMIM:620029
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Splenomegal...	OMIM:306400
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus	ORPHA:65288
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	ORPHA:98908
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Vesicoureteral reflux, Anomal...	OMIM:616368
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Pure red cell aplasia, Neoplas...	ORPHA:99867
Pancreatic And Cerebellar Agenesis	Anemia, Failure to thrive, Reduced subcutaneous adipose tissue, Secundum atrial septal defect, Hy...	OMIM:609069
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Tracheoesophageal fistula, Pulmoni...	ORPHA:904
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Dubowitz Syndrome	Postnatal growth retardation, Hypospadias, Short stature, Hydronephrosis, Intrauterine growth ret...	ORPHA:235
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis	ORPHA:2092
Congenital Tracheal Stenosis	Abnormality of the kidney, Duodenal atresia, Meckel diverticulum, Abnormal gastrointestinal tract...	ORPHA:141127
Coccidioidomycosis	Abnormality of the female genitalia, Abnormality of the kidney, Mediastinal lymphadenopathy, Panc...	ORPHA:228123
Mckusick-Kaufman Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula	OMIM:236700
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Macroglossia, High palate, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventri...	ORPHA:96191
Tarp Syndrome	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	ORPHA:2886
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Enuresis, Short stature, Growth delay, Hydronephrosis	ORPHA:96121
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Cardiofaciocutaneous Syndrome 1	Short stature, Hydronephrosis	OMIM:115150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia...	ORPHA:469
Nijmegen Breakage Syndrome	Intrauterine growth retardation, Recurrent urinary tract infections, Hydronephrosis, Short stature	OMIM:251260
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Cornelia De Lange Syndrome 1	Ectopic kidney, Abnormal renal morphology, Malrotation of colon, Hypospadias, Cleft palate, Reduc...	OMIM:122470
Cardiofaciocutaneous Syndrome	Short stature, Hydronephrosis	ORPHA:1340
Opitz Gbbb Syndrome	Hypospadias, Vesicoureteral reflux, Short stature, Hydronephrosis, Abnormality of the urinary system	ORPHA:2745
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysacchariduria, Abn...	ORPHA:581
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy...	OMIM:604292
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin...	ORPHA:3260
Orofaciodigital Syndrome Type 1	Hydronephrosis, Multicystic kidney dysplasia, Proteinuria, Renal insufficiency	ORPHA:2750
Generalized Pustular Psoriasis	Congestive heart failure, Elevated circulating C-reactive protein concentration, Hypocalcemia, Le...	ORPHA:247353
17Q24.2 Microdeletion Syndrome	Pulmonic stenosis, Failure to thrive in infancy, Truncal obesity, Prolonged QT interval	ORPHA:529962
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Cleft soft palate, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Re...	OMIM:619321
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Weight loss	ORPHA:1302
Digeorge Syndrome	Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Hypocalce...	OMIM:188400
Congenital Heart Defects, Multiple Types, 9	Left axis deviation, Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, ...	OMIM:620294
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas, Duodenal atresia	ORPHA:1203
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Cleft palate, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Po...	ORPHA:137675
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Postnatal growth retardation, Unilateral renal agenesis, Hydronephrosis, Hypospadias	ORPHA:487796
Otopalatodigital Syndrome Type 2	Ureteral obstruction, Hydronephrosis, Hypospadias	ORPHA:90652
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Gastroesophageal reflux, Patent foramen ovale, Vesicoureteral refl...	OMIM:616975
Ulnar-Mammary Syndrome	Delayed puberty, Hypoplasia of penis, Breast aplasia, Ectopic anus, Hypoplastic nipples, Ventricu...	ORPHA:3138
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia	OMIM:271520
Cutis Laxa, Autosomal Recessive, Type Ic	Rectal prolapse, Multiple bladder diverticula, Gastroesophageal reflux, Accessory spleen, Patent ...	OMIM:613177
Wiskott-Aldrich Syndrome	Hematemesis, Abnormal platelet morphology, Epistaxis, Hematochezia, Lymphopenia, Neutropenia, Abn...	ORPHA:906
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis	OMIM:618042
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Interrupted aortic arch, Pulmonary artery stenosis, Glycosuria, Pulmonic st...	OMIM:600001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus...	ORPHA:2255
Oeis Complex	Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena...	OMIM:258040
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Pancreas, Annular	High intestinal obstruction, Annular pancreas, Duodenal stenosis	OMIM:167750
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Annular Pancreas	High intestinal obstruction, Annular pancreas, Duodenal stenosis	ORPHA:675
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Nephrolithiasis, Cervicitis, Decreased level ...	ORPHA:722
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Down Syndrome	Atrioventricular canal defect, Leukemia, Gait disturbance, Umbilical hernia, Polycythemia, Neutro...	ORPHA:870
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentr...	ORPHA:2331
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Immunodeficiency 23	Failure to thrive, Vasculitis in the skin, Ataxia, Lymphopenia, Eosinophilia, Abscess, Hemolytic ...	OMIM:615816
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia, Abnormal pul...	ORPHA:667
Intellectual Developmental Disorder, Autosomal Dominant 42	Growth delay, Ureteropelvic junction obstruction, Neurogenic bladder, Hydronephrosis	OMIM:616973
White-Kernohan Syndrome	Hydronephrosis, Hydroureter, Horseshoe kidney	OMIM:619426
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Carney Triad	Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Adrenocortical...	ORPHA:139411
Tropical Pancreatitis	Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr...	ORPHA:103918
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Atrioventricular canal defect, Meckel diverticul...	OMIM:274000
Malakoplakia	Prostate neoplasm, Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency...	ORPHA:556
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Polycythemi...	OMIM:193300
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Schinzel-Giedion Midface Retraction Syndrome	Postnatal growth retardation, Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Microp...	OMIM:269150
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Macroglossia, Hepatomegaly, Cryptorchidism	OMIM:618143
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Short stature, Renovascular hypertension, Bladder diverticulum, Cystocele	ORPHA:286
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Hyperc...	ORPHA:369837
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Anorectal anomaly, Intestinal malrotation, Multiple renal cysts, Spl...	ORPHA:567
Schinzel-Giedion Syndrome	Annular pancreas, Aganglionic megacolon, Hypospadias, Anteriorly placed anus, Macroglossia, High ...	ORPHA:798
Hamamy Syndrome	Osteopenia, Inguinal hernia, Enamel hypoplasia, Microcytic anemia, Prolonged QRS complex, Cranios...	OMIM:611174
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Ureteral duplication, Nephronophthisis, Cholangitis, Anemia, Hepatomegaly, R...	OMIM:266920
Alkaptonuria	Prostatitis, Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral v...	ORPHA:56
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Elev...	ORPHA:449563
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Anal atresia, Clitoral hypoplasi...	OMIM:618419
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Rhizomelia, Hypospadias, Hypoplasia of penis, Short stature, Growth del...	ORPHA:818
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Short stature, Growth delay...	ORPHA:2044
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Leukocytosis, Portal hypertension, Por...	ORPHA:729
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Testicular atrophy	OMIM:601163
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Reduced C-peptide l...	OMIM:260370
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypocalciuria, Growth delay, Hypophosphatemia, Disproportionate short st...	ORPHA:89936
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia	OMIM:207731
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy, Impotence	OMIM:105210
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Thrombocytopenia, Splenomegaly, Dysphagia	OMIM:230900
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Vici Syndrome	Atrial septal defect, Congestive heart failure, Cardiomyopathy, Elevated circulating creatine kin...	OMIM:242840
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy...	OMIM:129900
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cleft palate, Cardiomegaly, Urinary retention, Nephroblastoma, ...	ORPHA:97297
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, Decreased ...	ORPHA:90790
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem...	ORPHA:289390
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Apert Syndrome	Hydronephrosis, Rhizomelic arm shortening	OMIM:101200
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, High palate	OMIM:618798
Frontometaphyseal Dysplasia	Growth delay, Ureteral obstruction, Hydronephrosis, Urethral stenosis	ORPHA:1826
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Rena...	OMIM:619522
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Monosomy 22Q13.3	Renal dysplasia, Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux	ORPHA:48652
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo...	OMIM:153670
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Pancreatitis, Splenic cyst, Patent foramen ovale, High palate, Hepatic sinusoidal ...	OMIM:620371
Von Hippel-Lindau Disease	Myocarditis, Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic endocrine...	ORPHA:892
Gray Platelet Syndrome	Menorrhagia, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Behçet Disease	Glomerulopathy, Gastrointestinal hemorrhage, Pancreatitis, Lymphadenopathy, Pericarditis, Endocar...	ORPHA:117
Robinow Syndrome, Autosomal Recessive 1	Hypospadias, Nephrolithiasis, Short stature, Hydronephrosis, Renal duplication, Nephrocalcinosis,...	OMIM:268310
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Neurogenic bl...	ORPHA:110
Immunodeficiency 9	Amelogenesis imperfecta, Difficulty walking, Abnormal natural killer cell count, Hypoplasia of th...	OMIM:612782
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, El...	ORPHA:365
Mesomelia-Synostoses Syndrome	Hydronephrosis, Mesomelic short stature	OMIM:600383
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepati...	OMIM:619127
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Hypospadias, Recurrent urinary tract infections, Vesicoureteral ref...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Hypospadias, Recurrent urinary tract infections, Vesicoureteral ref...	ORPHA:363958
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, High palate, Abnormal thymus morphology	ORPHA:2463
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Melkersson-Rosenthal Syndrome	Macroglossia, Oligosacchariduria, Lymphadenopathy, Furrowed tongue	ORPHA:2483
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Clear cell renal cell ...	ORPHA:90340
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Disproportionate short-limb short stature, Hypoplas...	ORPHA:1507
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Thrombocytopenia, Leukopenia, Lymphopenia, Lethargy	ORPHA:319218
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Cleft palate, Elevated circulating follicle stimulatin...	OMIM:305400
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Chime Syndrome	Abnormality of the kidney, Hydronephrosis	ORPHA:3474
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Growth delay, Hydronephrosis, Vesicoureteral reflux	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Growth delay, Hydronephrosis, Vesicoureteral reflux	ORPHA:352665
Okamoto Syndrome	Urinary incontinence, Anal stenosis, Abnormal left ventricle morphology, Gastroesophageal reflux,...	ORPHA:2729
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Hypercalciuria, Nephrocalcinosis, Short stature, Renal dysplasia	OMIM:300990
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Noonan Syndrome	Osteopenia, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Abnormality of the spl...	ORPHA:648
Selective Igm Deficiency	Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Lymphadenopathy, Stomach cancer,...	ORPHA:331235
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Thyroid adenoma, Adenomatous colonic polyposis,...	OMIM:617100
Icf Syndrome	Umbilical hernia, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures, Anemia, Splenomegaly, Hepatomegaly	OMIM:612301
Pancreatic Agenesis 2	Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet...	OMIM:615935
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Obesity, Prolonged QT interval, Tachycardia	ORPHA:1772
Robinow Syndrome	Multicystic kidney dysplasia, Short stature, Hydronephrosis, Webbed penis, Micropenis	ORPHA:97360
Knobloch Syndrome 1	Renal duplication, Hydronephrosis, Bifid ureter, Duplicated collecting system	OMIM:267750
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aorti...	ORPHA:2072
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, High palate, Ankyloglossia, Abnormal heart morphology, Ovarian cyst,...	OMIM:311200
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Osteogenesis Imperfecta, Type Vii	Short stature, Hydronephrosis, Rhizomelia	OMIM:610682
Melnick-Needles Syndrome	Hydronephrosis, Ureteral stenosis	OMIM:309350
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Ileus	ORPHA:163746
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration,...	OMIM:615287
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Vesicoureteral reflux, Short stature, Hydronephros...	ORPHA:138
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Short st...	ORPHA:353281
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Hydronephrosis	OMIM:601776
Carney Complex	Ductal carcinoma in situ, Neoplasm of the stomach, Neoplasm of the pancreas, Pituitary growth hor...	ORPHA:1359
Esophageal Atresia	Maternal diabetes, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract mo...	ORPHA:1199
Hepatoerythropoietic Porphyria	Red urine, Purple urine, Red-brown urine, Abnormal circulating porphyrin concentration, Increased...	ORPHA:95159
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, S...	ORPHA:2636
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Hypothyroidism, Lymphopenia, Aut...	OMIM:607944
Peters Plus Syndrome	Postnatal growth retardation, Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Dispro...	ORPHA:709
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Duplicated collecting system	OMIM:280000
Kabuki Syndrome 1	Postnatal growth retardation, Short stature, Growth delay, Ureteropelvic junction obstruction, Hy...	OMIM:147920
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Abnormal gastric mucosa...	ORPHA:1876
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Intrauterine growth retardation, Postnatal growth retardation, Hydronephrosis, Micropenis	ORPHA:83617
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Annular pancreas, High palate, Decreased serum insulin-like growth factor 1	OMIM:618162
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Atrioventricular canal defect, Aplasia of the epiglottis, Splenom...	OMIM:617088
Lymphatic Malformation 6	Intestinal lymphangiectasia, Gastroesophageal reflux, Ascites, Hypothyroidism, Splenomegaly, Atri...	OMIM:616843
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect	OMIM:615503
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Patent foramen ovale, Portal hypertension, Pulmonary arterial hypertens...	OMIM:620005
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Failure to thrive, Hepatosplenomegaly, Lymphopenia, Abn...	OMIM:242700
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Whim Syndrome	Limb ataxia, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymphopenia, Cellulitis, Neutro...	ORPHA:51636
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Friedreich Ataxia 2	Congestive heart failure, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic ste...	OMIM:601992
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, High palate, Pancreatic aplasia, Absent gallbladder, Reduced C-peptide level, Neo...	ORPHA:556955
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cushing Disease	Decreased eosinophil count, Increased body weight, Hypertension, Leukocytosis, Impaired glucose t...	ORPHA:96253
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Short stature, Nephrocalcinosis, Hydronephrosis, Congenital p...	OMIM:136140
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Failure to thrive, Cardiac conduction abnormality, Ataxia, Arrhythmia, Choreoathe...	ORPHA:2131
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Cleft palate, Mitral valve prolapse, Left ventricula...	OMIM:245600
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Arboleda-Tham Syndrome	Intrauterine growth retardation, Recurrent urinary tract infections, Hydronephrosis, Growth delay	OMIM:616268
African Trypanosomiasis	Myocarditis, Abnormality of renin-angiotensin system, Jaundice, Urinary incontinence, Lymphadenop...	ORPHA:3385
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Vesicoureteral reflux, Nephrolithiasis, Short stature, Hydronephrosis, Decreased circulating iron...	ORPHA:438213
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular ...	OMIM:300967
Tetrasomy 9P	Recurrent urinary tract infections, Intrauterine growth retardation, Hydronephrosis, Multiple ren...	ORPHA:3310
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Coffin-Siris Syndrome 1	Postnatal growth retardation, Hydroureter, Ectopic kidney, Hypospadias, Short stature, Renal hypo...	OMIM:135900
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Hematuria, Testicular microlithiasis, Mitral valve calcification, Increased circula...	ORPHA:60025
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:506358
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Postnatal growth retardation, Abnormality of the kidney, Hypospadias, Recurrent urinary tract inf...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Postnatal growth retardation, Abnormality of the kidney, Hypospadias, Recurrent urinary tract inf...	ORPHA:353277
Campomelic Dysplasia	Neonatal short-limb short stature, Hydronephrosis, Hypospadias, Disproportionate short-limb short...	OMIM:114290
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Leukocyte Adhesion Deficiency Type Ii	Scarring, Anemia, Leukocytosis, Failure to thrive, Neutrophilia, Ataxia, Umbilical hernia, Small ...	ORPHA:99843
Robinow Syndrome, Autosomal Dominant 1	Rhizomelia, Short stature, Hydronephrosis, Renal duplication, Micropenis	OMIM:180700
Knobloch Syndrome	Dextrocardia, Vesicoureteral reflux, Pyloric stenosis, Lymphangioma, Bifid ureter	ORPHA:1571
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai...	OMIM:301000
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, High palate, Hypogonadism, Cryptorchidism, Anteriorly placed anus	OMIM:268400
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
Secondary Intestinal Lymphangiectasia	Decreased circulating prealbumin concentration, Right ventricular failure, Intestinal bleeding, L...	ORPHA:90363
Doors Syndrome	Hydronephrosis, Abnormality of the urinary system, Increased urine alpha-ketoglutarate concentrat...	ORPHA:79500
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Xeros...	ORPHA:79078
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Growth delay, Hyd...	ORPHA:2273
Congenital Tracheomalacia	Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology...	ORPHA:95430
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Hypoplasia of penis, Renal cyst, Renal hypoplasia, Ure...	ORPHA:93271
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Cleft palate, Ankyloglossia, Duplicated collecting system	ORPHA:488642
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Rubinstein-Taybi Syndrome 1	Postnatal growth retardation, Hypospadias, Short stature, Growth delay, Hydronephrosis	OMIM:180849
Yunis-Varon Syndrome	Clitoral hypertrophy, High, narrow palate, Hypospadias, Renal artery stenosis, Cardiomyopathy, Gl...	ORPHA:3472
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux	ORPHA:2363
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Dilatation of renal calices, Recurrent urinary tract infection...	ORPHA:3455
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cleft palate, Cardiomyopathy	ORPHA:158687
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Short stature, Abnormal renal morphology, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:363700
Woodhouse-Sakati Syndrome	Osteopenia, Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Choreoathetosi...	ORPHA:3464
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Adrenal c...	ORPHA:51608
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Hydronephrosis, Hypospadias	OMIM:236680
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Dysphagia,...	OMIM:157640
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
Peters-Plus Syndrome	Postnatal growth retardation, Ureteral duplication, Rhizomelia, Hypospadias, Disproportionate sho...	OMIM:261540
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal adenocarcinom...	ORPHA:424016
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Hydronephrosis	OMIM:620330
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Hypocalcemia, Renal agenesis, Renal hypoplasia, Hy...	OMIM:214800
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, High palate, Abnormality of the Leydig cells, Cleft palate, Cryptorc...	ORPHA:3063
Sotos Syndrome	Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Re...	ORPHA:821
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Hepatomegaly, Aplasia of the sweat glands, Spl...	OMIM:612132
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormality of the thyroid gland	ORPHA:52417
Viss Syndrome	Coronary sinus enlargement, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysp...	OMIM:619472
Focal Dermal Hypoplasia	Ureteral duplication, Short stature, Hydronephrosis, Bifid ureter, Horseshoe kidney	OMIM:305600
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Anemia, Inguinal hernia, Lymphopenia	ORPHA:935
Williams-Beuren Syndrome	Renal insufficiency, Hypercalciuria, Abnormal renal morphology, Recurrent urinary tract infection...	OMIM:194050
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Otopalatodigital Syndrome, Type Ii	Short stature, Hydronephrosis, Postnatal growth retardation, Hypospadias	OMIM:304120
Plague	Hematemesis, Hepatomegaly, Glossitis, Lymphadenitis, Inflammation of the large intestine, Enteroc...	ORPHA:707
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Leukopenia, Proteinuria, Thrombocytopenia, Hemolytic anemia, ...	ORPHA:536
Woodhouse-Sakati Syndrome	Abnormal T-wave, Diabetes mellitus, Hyperlipidemia, Choreoathetosis	OMIM:241080
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Hydronephrosis, Delayed puberty, Short stature	ORPHA:480880
Riddle Syndrome	Enuresis nocturna, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration	ORPHA:420741
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Genitopatellar Syndrome	Hydronephrosis, Micropenis, Multicystic kidney dysplasia	OMIM:606170
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Acrofacial Dysostosis, Cincinnati Type	Intrauterine growth retardation, Hydronephrosis, Short stature	OMIM:616462
Mowat-Wilson Syndrome	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor...	ORPHA:2152
Ulnar-Mammary Syndrome	Delayed puberty, Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nip...	OMIM:181450
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261537
Osteogenesis Imperfecta	Rhizomelia, Hypercalciuria, Nephrolithiasis, Short stature, Growth delay, Intrauterine growth ret...	ORPHA:666
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypophosphaturia, Hypocalciuria	ORPHA:73223
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261552
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700

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.

Phenotype	Allele	Zygosity	Life Stage
Kidney - MPATH pathological process term hyperplasia	Clcnkb^em1(IMPC)Mbp	HOM	Early adult
Kidney - MPATH pathological process term hyperplasia	Clcnkb^em1(IMPC)Mbp	HOM	Late adult
Kidney - MPATH pathological process term chronic inflammation	Clcnkb^em1(IMPC)Mbp	HOM	Late adult

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 Clcnkb.

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

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MGI Allele	Allele Type	Produced
Clcnkb^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Clcnkb^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Clcnkb^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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Gene: Clcnkb MGI:1930643

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

X-ray

X-ray

X-ray

Histopathology

X-ray

Human diseases caused by Clcnkb mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data