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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
increased red blood cell distribution width	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.32×10^-06
small kidney	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased blood urea nitrogen level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	6.59×10^-12
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
abnormal heart morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
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
abnormal liver morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
small testis	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.57×10^-06
increased basophil cell number	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.98×10^-05
decreased locomotor activity	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.26×10^-06
abnormal bone structure	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.01×10^-06
increased circulating creatinine level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	3.24×10^-05
increased circulating cholesterol level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.19×10^-08
decreased mean corpuscular hemoglobin	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	5.04×10^-08
enlarged urinary bladder	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal ovary morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased total body fat amount	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.32×10^-10
enlarged kidney	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal urinary bladder morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
increased fasting circulating glucose level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.13×10^-10
abnormal skin morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal stomach morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged liver	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	6.16×10^-07
abnormal heart shape	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
increased lean body mass	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.90×10^-10
abnormal lymph node morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal cholesterol homeostasis	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	8.14×10^-08
increased circulating alkaline phosphatase level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	2.28×10^-18
shortened QRS complex duration	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.48×10^-05
abnormal spleen morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Clcnkb^em1(IMPC)Mbp	HOM	Middle aged adult	6.64×10^-10
increased blood urea nitrogen level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.34×10^-23
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
decreased heart weight	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.54×10^-11
shortened QT interval	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.35×10^-05
enlarged spleen	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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Histopathology

Images

4 Images

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Histopathology

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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	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri...	OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal...	OMIM:613090
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism...	ORPHA:89938
Gitelman Syndrome	Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Renal tubular acid...	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	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri...	OMIM:607364
Familial Hypoaldosteronism	Hypotension, Adrenal insufficiency, Hyponatremia, Hypovolemia, Decreased urinary potassium, Decre...	ORPHA:427
Late-Onset Familial Hypoaldosteronism	Hypotension, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decreased circulat...	ORPHA:556037
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyperkale...	OMIM:203400
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Early-Onset Familial Hypoaldosteronism	Hypotension, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decreased circulat...	ORPHA:556030
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal...	OMIM:613090
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal juxtaglomerular cell ...	OMIM:241200
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Metabolic acidosis, Hypokalemia, Hyp...	OMIM:604278
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism...	ORPHA:89938
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hypercalciuria,...	OMIM:602722
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Low-molecular-weight protein...	ORPHA:18
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal...	ORPHA:73224
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc...	OMIM:602522
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal...	OMIM:616963
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Metabolic acidosis, Hypokalemia, Hyponatremia, Po...	OMIM:620152
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Colchicine Poisoning	Hypotension, Oliguria, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Renal insuffi...	ORPHA:31824
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Acute Adrenal Insufficiency	Hypotension, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficie...	ORPHA:95409
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, H...	OMIM:612780
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Hypokalemia, Isothenuria, Sh...	OMIM:611590
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Increased circulating lactate concentration, Hyperechogenic kidneys, Hypo...	OMIM:613845
Gitelman Syndrome	Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Growth delay, Hypomagnesemia, Palp...	OMIM:263800
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Intrauterine growth retardation, Renal insufficiency, Decreased circulating ren...	ORPHA:320
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I...	OMIM:179800
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Nephrocalcinosis, Medullary nephrocalcinosis, Ne...	OMIM:143880
Liddle Syndrome	Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension	ORPHA:526
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal...	OMIM:613677
Variegate Porphyria	Elevated urinary delta-aminolevulinic acid, Tachycardia, Increased urinary porphobilinogen, Porph...	OMIM:176200
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c...	OMIM:613824
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Elevated diastolic blood pressure, Hyperuricemia, Coronary arte...	ORPHA:90041
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:168558
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote...	OMIM:177735
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:289548
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria...	OMIM:145600
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal salt wasting, Hyper...	OMIM:264350
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Hype...	OMIM:611489
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Hypernatriuria, Abnormal circulating aldosterone, Decreased cir...	OMIM:300539
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Liddle Syndrome 1	Hypokalemia, Hypokalemic alkalosis, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Acidosis, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal ins...	OMIM:137950
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Acidosis, Ketonuria, Glycosuria, Beta 2-microglobulinuri...	OMIM:227810
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis, Polyuria	OMIM:222100
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Growth delay...	OMIM:214700
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, El...	OMIM:617872
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ...	OMIM:232700
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ...	OMIM:256100
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con...	ORPHA:90791
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co...	ORPHA:3337
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H...	OMIM:174000
Renal Tubular Acidosis Iii	Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydroepiandrostero...	ORPHA:90794
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Ventricular arr...	ORPHA:90068
Microvillus Inclusion Disease	Hypovolemia, Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated urinary delta-...	OMIM:121300
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Primary am...	OMIM:612526
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria	ORPHA:428
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Cholesteryl Ester Storage Disease	Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl...	ORPHA:75234
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Familial Renal Glucosuria	Nephropathy, Moderate postnatal growth retardation, Glycosuria, Recurrent urinary tract infection...	ORPHA:69076
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldo...	ORPHA:171876
Lysosomal Acid Lipase Deficiency	Hypotension, Hypernatriuria, Abnormal urine potassium concentration, Adrenal calcification, Bone-...	ORPHA:275761
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid	OMIM:206400
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Adrenal...	ORPHA:85445
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Hypokale...	ORPHA:213
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Intrau...	ORPHA:99885
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco...	ORPHA:97362
Infantile Nephropathic Cystinosis	Aminoaciduria, Acidosis, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal t...	ORPHA:411629
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype...	OMIM:278000
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Nephronophthisis 4	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub...	OMIM:606966
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid	OMIM:612740
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria, Metabolic alkalosis	ORPHA:251274
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepat...	ORPHA:264580
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Hereditary Coproporphyria	Nephropathy, Dark urine, Abnormal circulating porphyrin concentration, Increased urinary porphobi...	ORPHA:79273
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Addison Disease	Adrenal calcification, Hypoparathyroidism, Renal salt wasting, Hyperkalemia, Thymoma, Androgen in...	ORPHA:85138
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Elevated urinary prostaglandin E2 level	OMIM:167100
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho...	ORPHA:405
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa...	OMIM:613388
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Macdermot-Winter Syndrome	Hydronephrosis, Intrauterine growth retardation	OMIM:247990
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte...	OMIM:614492
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Metabolic alkalosis, Increased urinary potassium, Decreased circulating renin level	ORPHA:231580
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Galactokinase Deficiency	Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Premature ovarian insufficiency, Hypercholest...	ORPHA:79237
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Lcat Deficiency	Acute kidney injury, Premature coronary artery atherosclerosis, Decreased HDL cholesterol concent...	ORPHA:650
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary...	ORPHA:231625
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Nephrogenic diabetes insipidus, Polyuria, Short stature, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Megacystis, Polyuria, Short stature, Diabetes insipidus, Hypernatremia	OMIM:304800
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Alkalosis, Nephrolithiasis	OMIM:219090
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Mitral regurgitatio...	OMIM:620300
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Cholera	Acidosis, Acute kidney injury, Abnormal blood ion concentration, Lactic acidosis, Hypocalcemia, H...	ORPHA:173
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Snakebite Envenomation	Epistaxis, Acute kidney injury, Hypotension, Cardiogenic shock, Hypopituitarism, Cerebral ischemi...	ORPHA:449285
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Elevat...	ORPHA:231111
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614495
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate,...	OMIM:242530
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Metabolic acidosis, Hematuria, Hypophosphatemia, E...	OMIM:219800
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Metabolic alkalosis, Decreased circulating renin level, Nephrolithiasis	OMIM:615474
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Helix Syndrome	Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria	OMIM:617671
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I...	ORPHA:3467
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Metabolic alkalosis, Nephrolithiasis	ORPHA:369929
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Increased circulating lactate concentration, Metabolic alkalo...	OMIM:616239
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:79240
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614496
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Metabolic acidosis,...	OMIM:616026
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Relapsing Fever	Epistaxis, Acute kidney injury, Abnormality of the urinary system, Hypotension, Increased total b...	ORPHA:91547
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hypophosphatemi...	OMIM:239200
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, 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	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ...	OMIM:613550
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy...	ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Preeclampsia	Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir...	ORPHA:275555
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy...	ORPHA:398124
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan...	ORPHA:139507
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Xanthelasma, Hepatic steatosis, Polycystic ovaries, Tubuloin...	ORPHA:79259
Congenital Generalized Lipodystrophy	Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external g...	ORPHA:528
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Reduced sperm motility, Recur...	ORPHA:730
Mercury Poisoning	Acute kidney injury, Hypotension, Hypokalemia, Tachycardia, Hypertension	ORPHA:330021
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Mucoid extracellu...	ORPHA:91387
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Hyperammonemia, Eleva...	OMIM:212138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Familial Glucocorticoid Deficiency	Precocious puberty, Hypotension, Decreased circulating dehydroepiandrosterone concentration, Impa...	ORPHA:361
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Nephrotic syndrome, Bone marrow hypocellularity, H...	OMIM:617303
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232200
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic microcytic anem...	OMIM:610198
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hydroneph...	OMIM:617913
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased circulating lactate concentration, Lactic acidosis, Hyperprolinemia, Hyperalaninemia, L...	ORPHA:79246
Cat-Eye Syndrome	Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis, Short stature, Abnorma...	ORPHA:195
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome, Increased circulating lactate concentration, Hypoalbuminemia	OMIM:614652
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ...	ORPHA:99826
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hypogonadism, Amen...	ORPHA:168569
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe...	ORPHA:90795
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Cholestasis, Ascites, Elev...	OMIM:608104
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Renal tubular acidosis	ORPHA:79155
Timothy Syndrome	Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve...	OMIM:601005
Medullary Sponge Kidney	Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis	ORPHA:1309
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Immunodeficiency 104	Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia, Hypertension, Decreased circulating aldosterone l...	OMIM:218030
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Kaposiform Lymphangiomatosis	Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnorma...	ORPHA:464329
X-Linked Intellectual Disability, Schimke Type	Hydronephrosis, Vesicoureteral reflux, Short stature	ORPHA:85285
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Metabolic acido...	OMIM:613404
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroid h...	OMIM:617994
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal...	ORPHA:26793
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Hsd10 Disease, Neonatal Type	Abnormal concentration of acylcarnitine in the urine, Lactic acidosis, Metabolic acidosis	ORPHA:391457
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Lactic acidosis, Hydroureter	OMIM:618240
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Image Syndrome	Hydronephrosis, Intrauterine growth retardation, Hypospadias	ORPHA:85173
Citrullinemia, Classic	Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Elevat...	OMIM:215700
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Hypotension, Elevated circulating creatinine concentration, Reduced left ven...	ORPHA:542323
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph...	ORPHA:340
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch...	ORPHA:247598
Renal Tubular Dysgenesis	Renotubular dysgenesis, Hypotension, Abnormality of the urinary system, Anuria	OMIM:267430
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u...	OMIM:137920
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Glycogen Storage Disease Xi	Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k...	OMIM:612933
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Arrhythmia, Hyperkalemia, Growth delay, Elevated creatine kin...	ORPHA:57
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit...	ORPHA:64743
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,...	ORPHA:75566
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp...	ORPHA:2088
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl...	ORPHA:231226
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C...	ORPHA:470
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Systemic Capillary Leak Syndrome	Hypotension, Oliguria, Renal insufficiency, Arrhythmia, Abnormal renal tubule morphology, Myocard...	ORPHA:188
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Cardiogenic Shock	Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ...	ORPHA:97292
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Hypotension, Increased circulating prolactin concentration, Decreased respons...	ORPHA:91354
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Hi...	OMIM:269920
Brugada Syndrome 4	Atrial fibrillation, Syncope, Shortened QT interval	OMIM:611876
Glucose/Galactose Malabsorption	Glycosuria, Metabolic acidosis	OMIM:606824
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c...	OMIM:620454
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype...	ORPHA:84090
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ...	ORPHA:263501
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Leprechaunism	Nephrocalcinosis, Long penis, Central hypothyroidism, Hypertrophic cardiomyopathy, Postnatal grow...	ORPHA:508
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Hypospadias	OMIM:201710
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Metabolic alkalosis, Decreased circulating renin level, Renal cortical adenoma	ORPHA:231632
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Atherosclerosis, Recurrent urinary tract infections, Decreased glomer...	ORPHA:93598
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita...	OMIM:614736
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated...	ORPHA:57777
Legionnaires Disease	Hypotension, Renal insufficiency, Hyponatremia, Hematuria, Arrhythmia, Proteinuria, Myocarditis, ...	ORPHA:549
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Neuroleptic Malignant Syndrome	Hypertensive crisis, Acute kidney injury, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hyp...	ORPHA:94093
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis, Severe short stature	OMIM:204730
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, ...	OMIM:311250
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi...	ORPHA:66529
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr...	OMIM:237800
Bardet-Biedl Syndrome 17	Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria	OMIM:615994
Idiopathic Hypercalciuria	Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria	ORPHA:2197
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Dilated cardiomyopathy, Decreased circulating carnit...	ORPHA:71212
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Insulin resistance, Hypoglycemia, Abnormal EKG, Elevated circulating creatin...	ORPHA:230
Xanthinuria, Type I	Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin...	OMIM:278300
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:618183
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy...	ORPHA:31826
Muscular Dystrophy, Becker Type	Arrhythmia, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:300376
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, Leukocyto...	ORPHA:90065
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros...	ORPHA:449395
Argininosuccinic Aciduria	Aminoaciduria, Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Increased circulating argin...	OMIM:207900
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Renal insufficiency	OMIM:615996
Meningococcal Meningitis	Hypotension, Shock, Renal insufficiency, Increased circulating procalcitonin concentration, Eleva...	ORPHA:33475
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E...	OMIM:613885
46,Xy Sex Reversal 4	Hypoplasia of the uterus, Renal dysplasia, Gonadal dysgenesis, Elevated circulating creatinine co...	OMIM:154230
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria	OMIM:560000
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Dysmetria,...	OMIM:301310
Pearson Syndrome	Increased circulating lactate concentration, Glycosuria, Hypomagnesemia, Postnatal growth retarda...	ORPHA:699
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hyperten...	OMIM:610947
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Perlman Syndrome	High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Nephroblasto...	ORPHA:2849
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Hyperlipidemia, Glycosuria, Ketonuria	ORPHA:2089
Gitelman Syndrome	Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Renal tubular acid...	ORPHA:358
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Acute myelo...	ORPHA:158057
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent...	ORPHA:79473
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:369
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Polycy...	OMIM:618061
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Teratoma, Pineal	Polyuria	OMIM:273120
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con...	OMIM:274150
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato...	OMIM:606069
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Orthostatic Hypotension 2	Decreased glomerular filtration rate, Orthostatic hypotension	OMIM:618182
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpho...	ORPHA:54251
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper...	ORPHA:439232
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithias...	ORPHA:411543
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria	OMIM:612286
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ...	ORPHA:90301
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hypertension, Hyperaldosteronism	OMIM:605635
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia	OMIM:615361
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con...	OMIM:618892
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature	OMIM:613390
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Hyperprolinemia, Hyperalani...	OMIM:619003
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi...	OMIM:212140
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Hypotension, Methylmalonic ac...	OMIM:277400
Parathyroid Carcinoma	Chondrocalcinosis, Shortened QT interval, Hypophosphatemia, Weight loss, Osteoporosis, Lipoma, Hy...	ORPHA:143
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Elevated circu...	OMIM:614034
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Muscular Dystrophy, Cardiac Type	Carnosinuria, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:309930
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Secondary amenorrhea, Decreased circulating free T4 concentration, Hyperc...	OMIM:301033
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Hyperchloremic acidosis, Proximal ...	OMIM:179830
Cataract 47	Glycosuria	OMIM:612018
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible prim...	ORPHA:403
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Proteinuria, Hypokalemia, Increased serum bile acid concentration	OMIM:619377
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul...	ORPHA:90793
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k...	ORPHA:2364
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen...	OMIM:210250
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con...	OMIM:620366
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoproliferative glom...	ORPHA:251004
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Acidosis, Glycosuria, Elevate...	OMIM:231680
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis	OMIM:612287
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c...	OMIM:616730
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L...	ORPHA:45452
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati...	ORPHA:404
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, A...	ORPHA:465508
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618126
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Varicocele, Acute kidney injury, Impotence, Elevated circulating creatinine co...	ORPHA:49041
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circ...	OMIM:300635
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
N-Acetylglutamate Synthase Deficiency	Alkalosis, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, Hyperalan...	OMIM:237310
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Intrauterine growth ret...	OMIM:617595
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper...	ORPHA:99879
Hyperparathyroidism-Jaw Tumor Syndrome	Chondrocalcinosis, Shortened QT interval, Hypophosphatemia, Osteoporosis, Lipoma, Hypercalcemia	ORPHA:99880
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Supernumerary nipple, Elevated circulating creatinine concentration, Stage 5 ch...	OMIM:614376
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Multiple renal c...	ORPHA:2924
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali...	ORPHA:417
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, Visceromegaly, ...	ORPHA:116
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Decreased serum...	ORPHA:54057
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Septate vagina, ...	OMIM:608978
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Postnatal growth retardation, Intrauterine growth retardation, Hypercalcemia, Hypercalciuria, Mic...	OMIM:614732
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Dica...	OMIM:201475
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutrope...	ORPHA:79312
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Left ventricular hypertrophy, Flexion contracture,...	OMIM:616733
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly, Pyloric stenosis	ORPHA:664
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo...	OMIM:600649
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Arima Syndrome	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, ...	OMIM:243910
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Congenital Isolated Acth Deficiency	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circula...	ORPHA:199296
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Scrub Typhus	Myocarditis, Hypotension, Renal insufficiency	ORPHA:83317
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Nephrotic syndrome, Abnormal heart morphology, Hepa...	ORPHA:505248
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren...	OMIM:130650
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo...	ORPHA:157215
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Long penis, Intrauterine growth retardation, Hypokalemia, Severe postnatal grow...	ORPHA:769
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ...	OMIM:252150
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Muscular ventricular se...	ORPHA:66634
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu...	OMIM:230400
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Porphyria, Acute Intermittent	Urinary retention, Hypertension, Urinary incontinence, Elevated urinary delta-aminolevulinic acid...	OMIM:176000
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Lymphadenopathy	ORPHA:99976
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Short stature	OMIM:193100
Mody	Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m...	ORPHA:552
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem...	ORPHA:79276
Hypotonia-Cystinuria Syndrome	Increased circulating lactate concentration, Cystine crystalluria, Postnatal growth retardation, ...	OMIM:606407
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Ventricular septal defect, Anisocyto...	OMIM:258900
Primary Biliary Cholangitis	Xanthelasma, Cirrhosis, Hepatomegaly, Jaundice, Celiac disease, Esophageal varix, Ascites, Abnorm...	ORPHA:186
Transient Neonatal Diabetes Mellitus	Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Abnormal heart morphol...	ORPHA:99886
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,...	OMIM:209950
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an...	OMIM:202010
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hepatic ste...	ORPHA:79083
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Congenital Myopathy 19	Hydronephrosis, Renal atrophy	OMIM:618578
Scorpion Envenomation	Acute kidney injury, Ketonuria, Respiratory alkalosis, Glycosuria, Hypokalemia, Increased circula...	ORPHA:466677
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia	ORPHA:369873
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Temple Syndrome	Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Decreased testicular size,...	OMIM:616222
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper...	OMIM:619111
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Ovarian Hyperstimulation Syndrome	Increased circulating gonadotropin level, Increased serum testosterone level, Capillary leak, Hyp...	ORPHA:64739
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Bicuspid aortic valve, Atrial septal defe...	OMIM:617744
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hypercalcemia, Reduced bone mineral density, Multiple lipomas, Weight loss...	ORPHA:652
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Hypertriglyceridemia, Spleno...	OMIM:613327
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Metabolic alkalosis, Hypokalemia	ORPHA:786
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conce...	OMIM:201910
Immunodeficiency 47	Accessory spleen, Hepatic bridging fibrosis, Hepatic fibrosis, Normocytic anemia, Elevated circul...	OMIM:300972
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi...	ORPHA:75563
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Combined Malonic And Methylmalonic Acidemia	Acidosis, Ketoacidosis, Methylmalonic aciduria, Dicarboxylic aciduria, Dicarboxylic acidemia, Met...	ORPHA:289504
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Increased circulating free T4 c...	OMIM:613239
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Lactic acidosis, Hyperphosphaturia, Renal tubular dysfunction, Protein...	ORPHA:436271
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Hypophosphatemic Rickets, Autosomal Recessive, 2	Short stature, Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia	OMIM:613312
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Citrullinemia Type I	Hyperammonemia, Elevated plasma citrulline, Respiratory alkalosis	ORPHA:247525
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Increased circulating lactate concentration, Glycosuria, Lactic acidosis, Hyperpho...	OMIM:220110
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Decreased liver function, Increased circulating fer...	ORPHA:158061
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Ketonuria, Glycosuria	OMIM:618857
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd...	OMIM:607554
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hypotension, Recurrent urinary tract infections, Shock, Elevated circulating cre...	ORPHA:36234
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit...	ORPHA:228308
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, An...	OMIM:618278
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Failure to thrive, Anisocytosis, Camptodactyly, Flexion contracture	OMIM:604273
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon...	ORPHA:90647
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosi...	OMIM:613179
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal heart morphology, Hepatosplenom...	ORPHA:79333
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int...	ORPHA:210122
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Respiratory alkalosis, Oroticaciduria, Abnormal circulating citrulline concentration, Hyperornith...	ORPHA:415
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Beta-Ketothiolase Deficiency	Hypotension, Ketonuria, Hyperammonemia, Hyperuricemia, Hypertension	ORPHA:134
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Pseudohypoaldosteronism Type 2	Short stature, Hyperkalemia, Hypertension, Growth delay	ORPHA:757
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Tracheoesophageal fistula, Esophageal atresia, Ure...	OMIM:314390
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Metabolic acidosis, Blue urine, Hypercalcemia	ORPHA:94086
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Hyperammonemia, Low plasma citrulline, Hypoargininemia, Episodic ammonia i...	OMIM:237300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Renal insuf...	ORPHA:281090
Desmoplastic Small Round Cell Tumor	Ascites, Ileus, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neoplasm, Hep...	ORPHA:83469
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy...	OMIM:308240
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc...	OMIM:620282
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries, Proteinuria, Hem...	OMIM:608709
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Increased circulating lactate concentration, Hyponatremia, Oligo...	ORPHA:534
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Chronic noninfecti...	ORPHA:100083
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Proximal tubulopathy, Hepatic fail...	OMIM:602579
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Jaundice, Uncon...	ORPHA:447
Distal Duplication 6P	Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardation, Hydronephro...	ORPHA:1745
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypogonadism	OMIM:608540
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Throm...	ORPHA:2123
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Webb-Dattani Syndrome	Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Short stature, Hypernat...	OMIM:615926
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne...	ORPHA:2470
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Second degree atrioventricular block, Urinary retention, Graves disease, Hy...	ORPHA:79102
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Multiple Myeloma	Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Elevated ...	ORPHA:29073
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont...	OMIM:310300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Hypokalemia, Hyperthyroidism, Tachycardia	OMIM:188580
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Protei...	ORPHA:263455
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypertrophic cardiomyopathy, Tors...	OMIM:616878
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Cockayne Syndrome Type 1	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Renal insufficiency, ...	ORPHA:90321
Post-Traumatic Pituitary Deficiency	Hypotension, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased...	ORPHA:95619
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, In...	ORPHA:160
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Cryptorchidism, Hyperchole...	ORPHA:96184
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili...	OMIM:301068
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, High palate, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux, Short stature	OMIM:618265
Rhabdoid Tumor	Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hype...	ORPHA:69077
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti...	ORPHA:860
Tetraploidy	Hydronephrosis, Intrauterine growth retardation, Renal hypoplasia/aplasia	ORPHA:3305
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency, Hyperammonemia	ORPHA:28
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase...	OMIM:608600
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P...	OMIM:618886
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypotension, Abnormal pulse pressure, Sinus tac...	ORPHA:466650
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Metabolic acidosis, Myoglobinuria, Hyperkalemia, Elevated...	ORPHA:423
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Abnormality ...	ORPHA:247691
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia, Hypopla...	ORPHA:633
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Shock, Renal insufficiency, Myocarditis, Bradycardia, Elevated circulating...	ORPHA:319213
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276575
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperpl...	OMIM:603909
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276580
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclero...	OMIM:209010
Hellp Syndrome	Acute kidney injury, Hypotension, Proteinuria, Internal hemorrhage, Cerebral hemorrhage, Hemoglob...	ORPHA:244242
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Elevated circ...	OMIM:615895
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Dengue Fever	Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hypoproteinemia	ORPHA:99828
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Hyperkalemic Periodic Paralysis	Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona...	ORPHA:682
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi...	OMIM:603903
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired...	ORPHA:811
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Labial pseudohypert...	OMIM:151660
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr...	OMIM:620632
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Recombinant Chromosome 8 Syndrome	Hydronephrosis, Postnatal growth retardation, Growth delay	OMIM:179613
Propionic Acidemia	Organic aciduria, Hypoglycemia, Cardiomyopathy, Hyperammonemia, Hepatomegaly	ORPHA:35
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l...	ORPHA:397596
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia	OMIM:619164
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Xanthelasma, He...	ORPHA:412
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Hyperparathyroidism, Gastroesophageal reflux, Splenic cyst, Ovarian cy...	OMIM:618188
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Cleft palate, Enlarged kidney, Cystic re...	OMIM:608022
Seckel Syndrome 10	Severe short stature, Elevated circulating luteinizing hormone level, Glycosuria, Congestive hear...	OMIM:617253
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Ham...	OMIM:310200
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Pde4D Haploinsufficiency Syndrome	Hypotension, Elevated circulating parathyroid hormone level, Postnatal growth retardation, Intrau...	ORPHA:439822
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ...	ORPHA:324575
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca...	ORPHA:199244
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal ce...	ORPHA:97290
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovar...	ORPHA:2348
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Right ventricular dilatation, Hypoplas...	ORPHA:79328
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra...	ORPHA:234
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Jau...	ORPHA:93111
Sepsis In Premature Infants	Hypotension, Oliguria, Reversible renal failure, Bradycardia, Elevated circulating C-reactive pro...	ORPHA:90051
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Hepatomegaly, 3-Methylglutar...	OMIM:557000
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal trac...	OMIM:301110
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Calcium nephrolithiasis, Hypophosphatemic rickets, Renal tubular dysfunc...	OMIM:241530
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Nocturia, Elevated circula...	OMIM:223360
Wolman Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Acute hepatic failure	OMIM:620151
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ...	OMIM:252160
Propionic Acidemia	Hyperglycinuria, Failure to thrive, Cardiomyopathy, Hypoglycemia, Pancytopenia, Hyperglycinemia, ...	OMIM:606054
Serotonin Syndrome	Hypotension, Tachycardia, Acute kidney injury, Hypertension	ORPHA:43116
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis, Congenital hypothyroidism, Hypoalbuminemia	ORPHA:88643
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Short stature	OMIM:620141
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension, Weigh...	ORPHA:90060
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Anemia, Pancr...	ORPHA:27
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena...	ORPHA:890
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectas...	ORPHA:1655
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Lactic acidosis, Hyperbilirubinemia, H...	OMIM:229600
Mitchell-Riley Syndrome	Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ...	OMIM:615710
Wolcott-Rallison Syndrome	Chronic kidney disease, Acute hepatic failure, Hyperbilirubinemia, Atrial septal defect, Neutrope...	ORPHA:1667
Smith-Magenis Syndrome	Abnormality of the urinary system, Velopharyngeal insufficiency, Abnormal heart morphology, Abnor...	OMIM:182290
Infant Botulism	Hyponatremia, Cardiac arrest, Hypotension, Hypertension	ORPHA:178478
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification...	OMIM:208000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Anemia, Pancreatitis, Neutropenia...	ORPHA:289916
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre...	OMIM:603553
Cranioectodermal Dysplasia 1	Chronic kidney disease, Rhizomelia, Renal magnesium wasting, Stage 1 chronic kidney disease, Stag...	OMIM:218330
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney, Short stature	ORPHA:634
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic...	ORPHA:276556
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Elevated circulating amyl...	OMIM:619750
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran...	OMIM:602347
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Wolman Disease	Hepatic failure, Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegal...	ORPHA:75233
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula...	OMIM:618838
Lesch-Nyhan Syndrome	Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Short stature	OMIM:300322
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatosplenomegaly, Hemolytic an...	OMIM:618935
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Postnatal growth retardation, Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Hyperammonemia, Hyperu...	ORPHA:20
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Spider hemangioma, Decreased glomerular filtration rate, Rena...	OMIM:232240
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Late-Onset Isolated Acth Deficiency	Hypotension, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin def...	ORPHA:199299
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis, Short stature	OMIM:609757
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph...	ORPHA:319487
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular...	OMIM:145981
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab...	OMIM:251120
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Hyperalan...	OMIM:619064
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Abnormality of the liver, Pancytopenia, Macrocytic anemia, Hyp...	ORPHA:2169
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Hypoglycemic seizures, Hypoglycemia, Abnormal E...	ORPHA:480864
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato...	ORPHA:79084
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro...	OMIM:600740
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Elevated circulating C-reactive ...	OMIM:607115
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El...	OMIM:613812
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased seru...	OMIM:619046
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Lymphocytic in...	ORPHA:436159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Joint contracture, Elevated circulating creatine kinase concentration	OMIM:615351
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenom...	OMIM:618495
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Glucose...	OMIM:615630
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Kerion Celsi	Lymphadenopathy	ORPHA:499
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Elevated ci...	OMIM:614576
Acute Liver Failure	Acidosis, Acute kidney injury, Alkalosis, Hyperammonemia	ORPHA:90062
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Intrauterine growth retardation, Hypoplasia of penis, Growth delay	ORPHA:2083
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Muc...	OMIM:252500
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Increased circulating procalcitonin concentration, Elevated circulating C-rea...	ORPHA:36238
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced hapto...	OMIM:611881
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula...	OMIM:194380
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Il...	OMIM:304790
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros...	ORPHA:2237
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Ascites, Hypocholesterolemia, Pericardial effusion, Villous atrophy, Splenomegal...	OMIM:608776
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly...	ORPHA:824
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Ogden Syndrome	Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	OMIM:300855
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux	OMIM:613735
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J...	ORPHA:108
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc...	ORPHA:157798
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Conjugated hyperbilirub...	OMIM:601847
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Postnatal growth retardation	ORPHA:531151
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm...	OMIM:610199
Immunodeficiency 54	Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo...	OMIM:609981
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Endove Syndrome, Limb-Only Type	Hydronephrosis, Vesicoureteral reflux	OMIM:619217
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase	ORPHA:681
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Necrotizing Enterocolitis	Hypotension, Abnormal heart morphology, Shock, Hyperglycemia, Leukocytosis, Abnormal glucose home...	ORPHA:391673
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Perineal fistula, Renal hyp...	ORPHA:2538
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney, Short stature	ORPHA:1920
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Hypotension	OMIM:615668
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblas...	OMIM:222300
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine ...	OMIM:251110
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia	OMIM:145980
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf...	OMIM:300200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Postnatal growth retardation, Intrauterine growth retardation, Hyperammonemia, H...	OMIM:617093
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Ventricular arrhythm...	ORPHA:36913
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, D...	OMIM:614921
Tetrasomy 15Q26	Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis	OMIM:614846
Joubert Syndrome 37	Hydronephrosis, Micropenis, Short stature	OMIM:619185
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hyp...	OMIM:612089
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Ventricular septal defect,...	OMIM:616589
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H...	OMIM:255160
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Al Amyloidosis	Hypoalbuminemia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Howell-Jolly...	ORPHA:85443
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:145260
Smith-Magenis Syndrome	Precocious puberty, Gastroesophageal reflux, Abnormality of the ureter, Renal hypoplasia/aplasia,...	ORPHA:819
Aromatic L-Amino Acid Decarboxylase Deficiency	Short stature, Hypotension, Increased circulating prolactin concentration	ORPHA:35708
9Q31.1Q31.3 Microdeletion Syndrome	Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, Hypercholesterolemia, R...	ORPHA:401923
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Hepatomegal...	ORPHA:85414
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures	ORPHA:94090
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia	OMIM:614741
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Alagille Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy...	OMIM:118450
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Morgagni-Stewart-Morel Syndrome	Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, Abnormalit...	ORPHA:77296
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi...	OMIM:269700
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	OMIM:246900
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Unsteady gait, Type II diabetes mellitus, Cardiomyopathy	OMIM:520000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Cardiomyopathy, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Cer...	OMIM:251000
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Hyponatremia, Hypothyroidism, Myocarditis, Myocardial i...	ORPHA:3452
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Elevated cir...	ORPHA:77259
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled...	ORPHA:480520
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis ...	OMIM:211600
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to ...	OMIM:602782
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Arterial oc...	ORPHA:100078
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Congenital Erythropoietic Porphyria	Osteopenia, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reti...	ORPHA:79277
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, ...	OMIM:235255
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,...	ORPHA:94089
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f...	OMIM:251880
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis...	ORPHA:276280
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Hypothyroidism,...	ORPHA:39041
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid...	ORPHA:416
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism, Hypertension, Pollakisuria	ORPHA:93256
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia...	OMIM:614702
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein conc...	ORPHA:1451
Combined Immunodeficiency Due To Zap70 Deficiency	Nephrotic syndrome, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-po...	ORPHA:911
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, ...	ORPHA:290
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Abnormality of the liver, Hepatomegaly, Macrogloss...	ORPHA:254864
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal intestine morphology, Neutropenia, Tubulointerstitial nephritis, Nephrotic syndrome, Abn...	ORPHA:37042
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Diamond-Blackfan Anemia 6	Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobi...	OMIM:612561
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate aminotransfera...	OMIM:257200
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine...	OMIM:619534
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
22Q11.2 Duplication Syndrome	Hydronephrosis, Urethral stenosis, Growth delay, Displacement of the urethral meatus	ORPHA:1727
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Type II diabetes mellitus, Hypothyroi...	ORPHA:99812
Stevens-Johnson Syndrome	Dysuria, Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormality of the urethra	ORPHA:36426
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Hyperammonemia, Cryptorchidism,...	ORPHA:1194
Crimean-Congo Hemorrhagic Fever	Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Adrenal insufficiency, ...	ORPHA:99827
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elev...	OMIM:618805
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Barth Syndrome	Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Conges...	OMIM:302060
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph...	ORPHA:1834
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thr...	OMIM:226990
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite...	ORPHA:2198
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excre...	OMIM:211900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S...	OMIM:612714
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Elevated circulating creatine kinase concentration...	OMIM:500009
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ...	ORPHA:228305
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom...	OMIM:301078
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Intrauterine growth retardation, Hypospadias	OMIM:220210
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Increased circu...	ORPHA:97289
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	OMIM:300280
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Hypophosphatasia, Infantile	Nephrocalcinosis, Disproportionate short-limb short stature, Phosphoethanolaminuria, Elevated pla...	OMIM:241500
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Glomerular scleros...	OMIM:619487
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hamartoma of tongue, Intestinal malrotation, Ambiguous genitalia, Micropenis, Bi...	OMIM:613091
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ...	ORPHA:79403
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemic alkalosis	OMIM:202110
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Absent circulating B cell...	OMIM:619705
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Increased circulating lactate concentration, Glycosuria, Lactic acidosis, Renal tubular dysfuncti...	OMIM:616539
Trisomy 17P	Growth delay, Intrauterine growth retardation, Hydronephrosis, Short stature, Hypoplasia of penis...	ORPHA:261290
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Glucocorticoid Resistance, Generalized	Metabolic alkalosis	OMIM:615962
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Immunodeficiency 10	Hypoglycemia, Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic anemia, Abno...	OMIM:612783
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid...	OMIM:619471
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Increased c...	ORPHA:97287
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Growth delay	ORPHA:488613
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Cardiomyopathy, Hyperammonemia, Myocarditis	ORPHA:292
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Renal ins...	ORPHA:727
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Leukemia, Renal agen...	OMIM:227646
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Neoplasm of th...	ORPHA:100026
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Growth delay, Hyperphosphaturia, Hypocalcemia	ORPHA:89937
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,...	OMIM:616100
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal la...	ORPHA:435660
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti...	OMIM:620501
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def...	OMIM:620210
Leptospirosis	Acute kidney injury, Hypotension, Pulmonary hemorrhage, Arrhythmia, Cellular urinary casts, First...	ORPHA:509
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic ste...	ORPHA:79085
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	OMIM:616651
Endocrine-Cerebroosteodysplasia	Small scrotum, Microphallus, Hyperechogenic kidneys, Median cleft palate, Cryptorchidism, Ambiguo...	OMIM:612651
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism...	ORPHA:98850
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep...	ORPHA:263297
Isolated Atp Synthase Deficiency	Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypogonadism, Hyperammonem...	ORPHA:254913
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpi...	ORPHA:100080
Kury-Isidor Syndrome	Hydronephrosis, Growth delay	OMIM:619762
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Intrauterine growth retardation, Vesicoureteral reflux, Elevated circulating creatine kinase conc...	OMIM:301056
Diabetic Embryopathy	Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia	ORPHA:1926
Noonan Syndrome 12	Tetralogy of Fallot, Lymphopenia, Supravalvular aortic stenosis, Ventricular septal defect, Throm...	OMIM:618624
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate	ORPHA:760
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Postnatal growth retardation, Intrauterine growth retardation, Renal insufficiency, H...	OMIM:611209
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Trisomy 13	Abnormality of the ureter, Intrauterine growth retardation, Displacement of the urethral meatus, ...	ORPHA:3378
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Oliguria, Congestive heart failure, Heart murmur, Dilatation of the sinus o...	ORPHA:1054
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly	ORPHA:99931
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Nipah Virus Disease	Hypotension	ORPHA:99825
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia	OMIM:618494
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intestine...	OMIM:226300
Retinitis Pigmentosa 59	Elevated circulating hepatic transaminase concentration, Renal insufficiency, Cryptorchidism, Hep...	OMIM:613861
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ...	ORPHA:220393
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Hyperkalemia	OMIM:141000
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La...	OMIM:608594
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff...	ORPHA:91138
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Elevated circulating creatinine concentration, Glomerular sclerosis, Inc...	OMIM:223900
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia	ORPHA:721
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con...	OMIM:619313
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Splenomegaly, Cryptorchidism, Hypocalcemia, Hypercalc...	OMIM:618440
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurg...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurg...	ORPHA:100082
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate...	ORPHA:367
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr...	ORPHA:2137
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou...	OMIM:610644
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Short stature, Uric acid nephr...	OMIM:300661
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli...	ORPHA:2457
Hsd10 Disease, Infantile Type	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Abnormality of the lower urinary tract...	ORPHA:391428
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Renal tubular dysfunction, Hypophosphatemia, S...	OMIM:307800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Ventricular septal defect, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia	OMIM:619170
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph...	OMIM:617591
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Perry Syndrome	Hypotension	ORPHA:178509
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Cardiomyopath...	ORPHA:157
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Intrauterine growth retardation, Hydronephrosis, Decreased serum zinc, Duplicated collecting syst...	ORPHA:541423
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrop...	ORPHA:156
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Hypocomplementemic Urticarial Vasculitis	Ascites, Abnormal heart valve morphology, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Roifman Syndrome	Hepatosplenomegaly, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Ly...	ORPHA:353298
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ...	OMIM:618858
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Elevated circulating long chain fatty acid concentration, Clitoral hypertrophy, Ab...	OMIM:214110
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Type II diabetes mellitus, Telangiectasia of the skin, Gait distu...	ORPHA:100
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Hemolytic anemia, ...	ORPHA:809
Acquired Generalized Lipodystrophy	Insulin resistance, Abnormal circulating lipid concentration, Cardiomyopathy, Insulin-resistant d...	ORPHA:79086
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Colitis...	ORPHA:84064
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated circulating cre...	OMIM:617713
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Eleva...	OMIM:216360
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Hypergalactosemia, Decreased liver function	ORPHA:570422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Hypogonadism...	ORPHA:2905
Kennedy Disease	Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu...	ORPHA:481
Prader-Willi Syndrome	Precocious puberty, Small scrotum, Decreased HDL cholesterol concentration, Decreased response to...	OMIM:176270
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Elevated circulating hepatic tr...	ORPHA:26791
Amyloidosis, Finnish Type	Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Decreased hear...	OMIM:105120
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Elevated circulating asparta...	OMIM:620609
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, At...	OMIM:229300
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Intrauterine growth retardation, Nephroblastoma...	ORPHA:314588
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ...	ORPHA:2930
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata...	OMIM:614377
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Nephrocalcinosis, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hype...	OMIM:156400
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Attrv30M Amyloidosis	Nephropathy, Cardiomyopathy, Cardiomegaly, Impotence, Abnormal renal physiology	ORPHA:85447
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Increa...	ORPHA:90674
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc...	ORPHA:64753
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating hepatic transa...	OMIM:620138
Mesomelia-Synostoses Syndrome	Hydronephrosis, Short stature	ORPHA:2496
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension, Diabetic ketoacidosis	ORPHA:70578
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep...	ORPHA:3386
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes...	OMIM:248370
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Lactic acidosis, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Pancytopenia, ...	OMIM:614700
Fliedner-Zweier Syndrome	Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia	OMIM:620511
Johanson-Blizzard Syndrome	Intrauterine growth retardation, Hydronephrosis, Short stature, Hypoplasia of penis, Hypospadias,...	ORPHA:2315
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Ventricular septal defect...	OMIM:312870
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr...	OMIM:266150
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Decreased serum creatinine, Iron deficiency anemia, Pineal cyst, Decreased H...	OMIM:618885
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d...	OMIM:614859
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Mulibrey Nanism	Microglossia, Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myoc...	OMIM:253250
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydronephrosis, Intrauterine growth retardation, Micropenis, Hypospadias	OMIM:616897
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Elevated circulating hepatic transaminase ...	OMIM:615688
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:620376
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Secundum atrial septal defect, Horseshoe kidney, Tetralogy of ...	OMIM:612562
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Decre...	ORPHA:79319
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ho...	ORPHA:293978
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ...	OMIM:261680
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Igg4-Related Aortitis	Hydronephrosis, Elevated circulating C-reactive protein concentration	ORPHA:449400
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased...	ORPHA:544482
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Biventricular hypertrophy, Hepatic steatosis, ...	OMIM:619573
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased...	ORPHA:91349
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux, Short stature	ORPHA:2484
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp...	OMIM:620044
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Lactic acidosis, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated circulating creat...	ORPHA:79332
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He...	OMIM:610717
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Glycogen Storage Disease Ii	Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc...	OMIM:232300
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Ataxia	OMIM:612736
Mirage Syndrome	Microphallus, Recurrent urinary tract infections, Intrauterine growth retardation, Hyponatremia, ...	OMIM:617053
Micro Syndrome	Intrauterine growth retardation, Hydronephrosis, Delayed puberty, Short stature, Abnormal localiz...	ORPHA:2510
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ...	ORPHA:79239
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Zaki Syndrome	Hydronephrosis, Short stature, Renal agenesis	OMIM:619648
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Pulmonary arteriovenous malformation, Pulmonary arterial hypertension, ...	OMIM:606721
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:14
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia	OMIM:619051
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis, Short stature	ORPHA:364028
Sneddon Syndrome	Atrophic scars, Lymphopenia, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, Hyperte...	OMIM:182410
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Elevated circulating erythropoietin concentration, ...	OMIM:263400
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno...	OMIM:267010
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A...	ORPHA:199310
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal EKG	ORPHA:1177
Congenital Myopathy 8	Cardiomegaly, High palate	OMIM:618654
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid r...	ORPHA:100075
Systemic Lupus Erythematosus 17	Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy...	OMIM:301080
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, P...	OMIM:260400
Felty Syndrome	Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ...	ORPHA:47612
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Intrauterine growth retardation, Hydronephrosis, Sh...	ORPHA:1297
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, Short stature	ORPHA:3079
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr...	OMIM:613507
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hep...	OMIM:615238
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Chromosome 2P16.1-P15 Deletion Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis, Micropenis, Short ...	OMIM:612513
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ...	OMIM:613489
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu...	OMIM:222470
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Intrauterine growth retardation	OMIM:620327
Zttk Syndrome	Unilateral renal agenesis, Horseshoe kidney, Intrauterine growth retardation, Polyuria, Short sta...	OMIM:617140
Hawkinsinuria	Metabolic acidosis, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyph...	OMIM:140350
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Intrauterine growth ret...	ORPHA:887
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ga...	ORPHA:131
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Abnormal EKG, Inability to walk, Reduced left ventricular ejection fraction, Elevat...	ORPHA:268
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal...	ORPHA:391641
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal...	OMIM:606367
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Renal insufficiency, Congenital nephrotic syndrome, Hyp...	OMIM:256300
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ...	ORPHA:94059
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple...	ORPHA:565612
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Intestinal obstruction, Lymphadenopathy, Abnormal p...	ORPHA:26790
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Ell...	ORPHA:288
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hyperphosphaturia, Sho...	ORPHA:289176
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia, Abnormal circulating C-reactive prote...	OMIM:620514
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension, Urinary inconti...	ORPHA:441
ERI1-related disease	Hydronephrosis, Intrauterine growth retardation, Vesicoureteral reflux, Short stature	OMIM:608739
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Increased circulating lactate concentration, Increased total bilirubin, Metaboli...	OMIM:618528
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, ...	ORPHA:79456
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E...	OMIM:605911
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Short stature	OMIM:619179
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Short stature, Growth delay	ORPHA:457193
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album...	ORPHA:90291
Immunodeficiency 31C	Protein-losing enteropathy, Lymphopenia, Villous atrophy, Splenomegaly, Autoimmune hemolytic anem...	OMIM:614162
Aredyld Syndrome	Type I diabetes mellitus, Abnormality of the ureter, Type II diabetes mellitus, Splenomegaly, Hep...	ORPHA:1133
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Alkaptonuria	Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi...	OMIM:203500
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Broad-based gait, Dilated cardiomyopathy, Abnormal circulating lipid concentr...	OMIM:616541
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio...	ORPHA:1666
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal pericardium morphology, Abnormal esophagus morphology, Abno...	ORPHA:2357
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Failure to thrive, Elevated circulating creatine concentration, Gait disturbanc...	OMIM:300352
Myasthenia Gravis	Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Raynaud phenomenon, Hyperthyroi...	ORPHA:589
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo...	ORPHA:781
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ...	OMIM:265380
Schimmelpenning-Feuerstein-Mims Syndrome	Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Short stature, Growth delay	OMIM:163200
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
3C Syndrome	Postnatal growth retardation, Hydronephrosis, Short stature, Hypoplasia of penis, Hypospadias	ORPHA:7
Baller-Gerold Syndrome	Abnormality of the ureter, Intrauterine growth retardation, Vesicoureteral reflux, Hydronephrosis...	ORPHA:1225
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Bladder polyp...	OMIM:175200
Koolen-De Vries Syndrome	Vesicoureteral reflux, Renal duplication, Hydronephrosis, Short stature, Ureteral duplication, Hy...	ORPHA:96169
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly, Abnormal urinary color	ORPHA:90037
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Splenomegaly, Hepatomegaly, Delayed puberty, Anemia, Nephrotic sy...	ORPHA:575
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg...	OMIM:277410
Carcinoid Syndrome	Increased serum serotonin, Abnormal circulating B-type natriuretic peptide concentration, Elevate...	ORPHA:100093
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Hypogonadism	ORPHA:1875
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat...	OMIM:614582
Kleefstra Syndrome	Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Short stature, Micropenis...	ORPHA:261494
Bardet-Biedl Syndrome 1	High, narrow palate, Hepatic fibrosis, Insulin resistance, Abnormality of the ovary, Decreased te...	OMIM:209900
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Severe postnatal growth retardation, Short stature	ORPHA:35173
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu...	OMIM:618549
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Growth delay, Proportionate short stature	OMIM:619269
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Noonan Syndrome 4	Hydronephrosis, Ureteral duplication, Short stature	OMIM:610733
Congenital Sialidosis Type 2	Umbilical hernia, Abnormal heart morphology, Abnormal EKG, Hepatosplenomegaly, Inguinal hernia, D...	ORPHA:93400
Atrial Standstill 2	Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Transketolase Deficiency	Increased level of ribose in urine, Type I diabetes mellitus, Elevated circulating ribitol concen...	ORPHA:488618
Czeizel-Losonci Syndrome	Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis	ORPHA:2437
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Crohn's disease, O...	OMIM:249100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro...	ORPHA:500095
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas...	OMIM:212065
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ...	ORPHA:124
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia	OMIM:211890
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure...	ORPHA:3093
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Ascites, Lymphop...	ORPHA:93552
Rett Syndrome	Abnormal T-wave, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia, Prolonged QTc interval	OMIM:312750
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria, Short stature, Growth delay	ORPHA:101000
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue...	ORPHA:564
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Mogs-Cdg	Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Hypo...	ORPHA:79330
Microphthalmia, Lenz Type	Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis, Short stature, Hypospadias	ORPHA:568
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Syncope, Short sta...	OMIM:170390
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Syncope, Orthostatic hypotension, Tachycardia, Mic...	ORPHA:71273
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, High palate, Erythroi...	OMIM:612541
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Fryns Syndrome	Ectopic pancreatic tissue, Meckel diverticulum, Renal agenesis, Polysplenia, Bifid scrotum, Intes...	OMIM:229850
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Alveolar Echinococcosis	Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnormal pericardium ...	ORPHA:284
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postnatal growth retardation, Elevated 8(9)-cholestenol, Hydronephrosis, Elevated 8-d...	OMIM:302960
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr...	OMIM:313200
Trisomy 1Q	Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261344
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j...	OMIM:170100
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Splenomegaly, Sclerosing cholangitis, Hepatomeg...	OMIM:308230
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hypocholesterolemia, Hepatomegaly, Micropenis, Hydrocele testis	OMIM:618810
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Brucellosis	Hypersplenism, Glomerulonephritis, Hepatomegaly, Elevated circulating C-reactive protein concentr...	ORPHA:1304
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Neut...	OMIM:617941
Zellweger Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Short stature	ORPHA:912
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g...	ORPHA:2494
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating aspartate aminotransfer...	ORPHA:99829
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hydronephrosis, Short stature, Growth delay	ORPHA:1358
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Gastroesophageal reflux, Recurrent urinary tract infectio...	OMIM:615873
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re...	ORPHA:83313
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Structural Heart Defects And Renal Anomalies Syndrome	Tetralogy of Fallot, Elevated circulating creatinine concentration, Renal insufficiency, Ventricu...	OMIM:617478
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate	ORPHA:85212
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Hypoadrenocorticism, Familial	Hyponatremia, Adrenal insufficiency, Hyperkalemia, Adrenal hypoplasia	OMIM:240200
Oncogenic Osteomalacia	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Hypocalcemia	ORPHA:352540
Prolactinoma	Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Adrenocorticotropin deficien...	ORPHA:2965
Pfeiffer Syndrome Type 3	Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux	ORPHA:93260
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Mild postnatal growth retardation, Hydr...	OMIM:235510
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I...	OMIM:201810
Triploidy	Intestinal malrotation, Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancre...	ORPHA:3376
Microphthalmia, Syndromic 9	Severe short stature, Renal hypoplasia, Horseshoe kidney, Intrauterine growth retardation, Hydron...	OMIM:601186
Lassa Fever	Shock, Oliguria	ORPHA:99824
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Recurrent infection of the gastrointestinal tract, Absence of lymph ...	OMIM:608184
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Insulin resistance, Decreased HDL cholesterol concentration, Hypertr...	ORPHA:280365
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged...	OMIM:614049
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Peroxisome Biogenesis Disorder 3B	Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatomegaly, Steatorrhea,...	OMIM:266510
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Secundum atrial septal defect, Decreased liver function, Hypoglycemia, E...	OMIM:608779
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97283
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,...	ORPHA:456312
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Decreased response to growth hormone stimulation test,...	ORPHA:96179
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
Lead Poisoning	Chronic kidney disease, Decreased male libido, Imbalanced hemoglobin synthesis, Decreased HDL cho...	ORPHA:330015
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Thorac...	OMIM:619351
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Choles...	OMIM:615486
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Pelvis-Shoulder Dysplasia	Hydronephrosis, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb shortening, Short s...	ORPHA:2839
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Refsum Disease, Classic	Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph...	OMIM:266500
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto...	OMIM:246450
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Postnatal growth retardation, Intrauterine growth retardation, Prot...	ORPHA:2728
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete...	OMIM:615812
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia, Hydroxyprolinemia, Hypercalciuria, Short sta...	OMIM:239000
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome...	OMIM:203800
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab...	OMIM:123550
Marden-Walker Syndrome	Abnormal penis morphology, Severe short stature, Multicystic kidney dysplasia, Abnormality of the...	ORPHA:2461
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Agammaglobulinemia, X-Linked	Cor pulmonale, Recurrent urinary tract infections, Lymph node hypoplasia, Prostatitis, B lymphocy...	OMIM:300755
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Oral leukoplakia, Ascites, Gastrointestinal infarctions, Acute hep...	ORPHA:342
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu...	OMIM:613987
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Intrauterine growth retardat...	OMIM:300707
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Lymphopenia, B lymphocytopenia, Pulmonary insufficiency, T lymphocytopenia	ORPHA:277
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Short stature	OMIM:115470
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis, Postnatal growth retardation, Intrauterine growth retardation	ORPHA:254528
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Increas...	OMIM:222700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade...	ORPHA:31150
8P11.2 Deletion Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Splenomegaly, Cryptorc...	ORPHA:251066
Osteopetrosis With Renal Tubular Acidosis	Distal renal tubular acidosis, Renal tubular acidosis, Metabolic acidosis, Nephrolithiasis, Hydro...	ORPHA:2785
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture...	ORPHA:2473
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Hydronephrosis, Vesicoureteral reflux, Short stature, Severe intrauterine growth retardation	OMIM:620663
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac...	ORPHA:79404
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, High palate, Hydrocele testis	OMIM:605309
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:613070
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t...	OMIM:308700
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia, Cryptorchidism, High palate, Hypospadias	ORPHA:98791
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Intrauterine growth retardation, Vesicoureteral reflux, Hydronephrosis, Renal c...	OMIM:618460
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c...	OMIM:201450
Mosaic Trisomy 8	Hydronephrosis, Vesicoureteral reflux, Short stature	ORPHA:96061
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopeni...	OMIM:608013
Distal Deletion 12Q	High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Congenital hypertrophy of...	ORPHA:96149
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulati...	OMIM:214950
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r...	OMIM:607323
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Hoxha-Aliu Syndrome	Hydronephrosis, Vesicoureteral reflux	OMIM:620662
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepatomegaly, Hypothyroid...	OMIM:616263
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, ...	ORPHA:273
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Micropenis, Growth delay	OMIM:617798
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv...	ORPHA:70591
Argininemia	Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Hyperammonemia, Hyperargini...	OMIM:207800
Dpagt1-Cdg	Failure to thrive, Inability to walk, Akinesia, Anemia, Lipodystrophy, Camptodactyly, Ataxia, Pro...	ORPHA:86309
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Microcytic anemia, Ascites, Abnormality of the menstrual cycle, Abno...	ORPHA:90308
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Autosomal Dominant Severe Congenital Neutropenia	Cellulitis, Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutr...	ORPHA:486
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Papillary renal cell carcinoma, Abnormal intrahep...	ORPHA:363618
Chronic Granulomatous Disease	Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophils,...	ORPHA:379
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Short stature	ORPHA:85201
Tarp Syndrome	Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis	OMIM:311900
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele...	OMIM:618048
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Volvulus, Abnormality of the male genitalia, Recurrent urinary tract inf...	ORPHA:847
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T ce...	OMIM:617099
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, J...	ORPHA:60
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive pro...	OMIM:617388
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly...	OMIM:201100
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Gastroesophageal reflux, Oligosacchariduria	ORPHA:3137
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Pseudohypoparathyroidism Type 1A	Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Reduced bone mineral densi...	ORPHA:79443
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Intrauterine growth retardation, Vesicoureteral reflux, Short stature	ORPHA:250989
Papa Syndrome	Proteinuria, Type I diabetes mellitus, Lymphadenopathy, Crohn's disease	ORPHA:69126
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c...	OMIM:251900
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma	ORPHA:654
Ovarian Fibroma	Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri...	ORPHA:314473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral duplication, Ureteral hypo...	OMIM:614080
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Ventricular septal defect,...	OMIM:614866
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Abnormality ...	ORPHA:2035
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Albuminu...	OMIM:214100
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati...	ORPHA:308552
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism...	OMIM:308750
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Lymph...	ORPHA:167
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Hy...	ORPHA:39812
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Hepatitis, Increased circulating ferritin concentration, Hypert...	OMIM:615846
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor...	ORPHA:261318
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Abnormality of neutrophils, Oral leukoplakia, Abnor...	ORPHA:1775
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatome...	OMIM:619433
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Abnormality of the gastrointestinal tract, G...	ORPHA:33276
Feingold Syndrome	Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas	ORPHA:1305
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Metrorrhagia, Abnormal endometrium morp...	ORPHA:314478
Hennekam-Beemer Syndrome	Short stature, Hypotension, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Carpenter Syndrome 1	Hydronephrosis, Hydroureter, Short stature	OMIM:201000
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Gastroesophageal reflux, Enuresis, Volvulus, Dilatation of the renal pelvis, H...	OMIM:301111
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Elevated urine ...	OMIM:251100
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney	OMIM:613001
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos...	ORPHA:97280
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Hep...	ORPHA:1759
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Hypospadias	OMIM:616449
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ...	OMIM:608612
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Leukemia, Renal insufficiency, Splenomegaly, Lymp...	ORPHA:33226
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian...	OMIM:250790
Visceral Myopathy 1	Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis	OMIM:155310
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Mosaic Trisomy 9	Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Multiple renal cysts, Hypoplas...	ORPHA:99776
Musculocontractural Ehlers-Danlos Syndrome	Horseshoe kidney, Hydronephrosis, Functional abnormality of the bladder, Nephrolithiasis	ORPHA:2953
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, Renal agenesis, Postnatal growth retardation, Hydronephrosis, Micropenis, Hypospadias	OMIM:301040
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Intrauterine growth retardation, Vesicoureteral reflux, Hydro...	OMIM:610443
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Increased circulati...	ORPHA:635
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume...	OMIM:127550
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria	OMIM:615398
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Elevated circulating hepatic transaminase concentration, Elevated circula...	OMIM:256040
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Congenital Syphilis	Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Anemia, Pancreatitis, Lymphadenop...	ORPHA:499009
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonic stenosis, Rig...	OMIM:616028
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Amen...	ORPHA:2795
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leukopenia, Noncompaction cardiom...	ORPHA:508542
Smith-Lemli-Opitz Syndrome	Small scrotum, Hepatic steatosis, Cryptorchidism, Ventricular septal defect, Cirrhosis, Atrial se...	OMIM:270400
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Abnormality of the spleen, Hepatic steatosis, Cryp...	ORPHA:1606
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Congenital hypoplastic anemia, Hypochrom...	ORPHA:77297
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Ventricular septal def...	ORPHA:261250
Gaucher Disease, Type I	Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Abnormal myocardium mo...	ORPHA:32960
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
15Q Overgrowth Syndrome	Ureterovesical stenosis, Horseshoe kidney, Intrauterine growth retardation, Nephroblastoma, Hydro...	ORPHA:314585
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Intrauterine growth retardation, Multicystic kidney dysplasia, Growth delay	ORPHA:261349
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Thakker-Donnai Syndrome	Hydronephrosis, Intrauterine growth retardation	ORPHA:1780
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypop...	ORPHA:79444
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Campomelia, Cumming Type	Multicystic kidney dysplasia, Abnormal intestine morphology, Abnormality of the pancreas, Multipl...	ORPHA:1318
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Hypokalemia	OMIM:174900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia...	OMIM:608885
Craniofacioskeletal Syndrome	Intrauterine growth retardation, Hypocalcemia, Hydronephrosis, Short stature, Hypospadias	OMIM:300712
Fucosidosis	Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Mucopolysacchariduria, Hepatomegaly	ORPHA:349
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, Ureteral triplication	OMIM:104350
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97261
Teebi-Shaltout Syndrome	Horseshoe kidney, Hydronephrosis, Short stature, Ureteral stenosis	OMIM:272950
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn...	ORPHA:1332
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating creatinine concentr...	ORPHA:91500
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Short stature	OMIM:618454
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Cellulitis, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly...	OMIM:618986
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Dy...	OMIM:252930
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Growth delay, Distal urethral duplication, Intrauterine growth ret...	OMIM:146510
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis, Growth delay	ORPHA:247262
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Fryns Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias	ORPHA:2059
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne...	OMIM:614868
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect...	OMIM:115197
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Umbilical hernia, Polysplenia, Hypo...	ORPHA:373
Recessive Mitochondrial Ataxia Syndrome	Limb dysmetria, Dysmetria, Gait disturbance, Ataxia, ST segment elevation, Increased serum pyruvate	ORPHA:94125
Jacobsen Syndrome	Aortic valve stenosis, Bone marrow hypocellularity, Multicystic kidney dysplasia, Hypoplastic lef...	ORPHA:2308
Neuhauser Syndrome	Bifid uvula, Primary hypothyroidism, Hypercholesterolemia, High palate, Dysphagia	OMIM:249310
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia	OMIM:605479
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, Ca...	ORPHA:289157
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Failure to thrive, Inability to walk, Lymphope...	OMIM:208900
Proteus Syndrome	Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarge...	ORPHA:744
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Bohring-Opitz Syndrome	Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Vesicoureteral reflux, Bil...	OMIM:605039
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Peritonitis, Lymphadenopathy, Hepatomegaly	ORPHA:343
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Sarcoidosis	Abnormal lymph node morphology, Abnormal reproductive system morphology, Hepatomegaly, Tubulointe...	ORPHA:797
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Hypospadias, Pyloric stenosis	OMIM:218350
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Abnormal atriovent...	ORPHA:324410
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Tricuspid stenosis, Persistence of hemoglobi...	OMIM:105650
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Growth delay	ORPHA:2995
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatome...	OMIM:614602
Congenital Myopathy 17	Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction	OMIM:618975
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin...	OMIM:263700
Erdheim-Chester Disease	Hydronephrosis, Dysuria, Renal insufficiency	ORPHA:35687
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Takenouchi-Kosaki Syndrome	Hydronephrosis, Unilateral renal agenesis, Hypospadias	OMIM:616737
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Tricuspid ste...	ORPHA:100079
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:259700
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary ly...	ORPHA:2136
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Persistence of hemoglobin F, Ventricular septal defect, Hiatus hernia, A...	OMIM:619769
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypopituitarism, Decr...	ORPHA:90695
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Short stature, Renal dysplasia	OMIM:300968
Acute Radiation Syndrome	Telangiectasia, Hypotension	ORPHA:454831
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u...	ORPHA:348
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233710
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Hepatomegaly, High palate	OMIM:619053
Poliomyelitis	Hypovolemic shock, Hypotension, Hypertension	ORPHA:2912
Alexander Disease	Precocious puberty, Hypotension, Hypothyroidism, Sudden cardiac death, Hypertension, Diabetes mel...	ORPHA:58
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Jejunal atresia, Ventricular...	OMIM:164280
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Megalocornea-Intellectual Disability Syndrome	High palate, Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Hematuria, Lymphadenopathy, Neutropenia, Th...	ORPHA:520
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,...	ORPHA:90324
Campomelic Dysplasia	Hydronephrosis, Short stature	ORPHA:140
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Hypocalcemic tetany, Recurrent infection of the gastrointesti...	ORPHA:83471
Schimke Immunoosseous Dysplasia	Osteopenia, Lymphopenia, Transient ischemic attack, Cerebral ischemia, Pancytopenia, Abnormal T c...	OMIM:242900
Gabriele-De Vries Syndrome	Hydronephrosis, Intrauterine growth retardation, Ureteropelvic junction obstruction	OMIM:617557
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell a...	OMIM:618165
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Cystic Fibrosis	Cor pulmonale, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, R...	OMIM:219700
8P Inverted Duplication/Deletion Syndrome	Hydronephrosis, Abnormality of the urinary system, Micropenis	ORPHA:96092
Transcobalamin Ii Deficiency	Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Anemia, Reticulocy...	OMIM:275350
Raine Syndrome	Hydronephrosis, Hypophosphatemia, Hydroureter, Short stature	OMIM:259775
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis, E...	ORPHA:900
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Postn...	OMIM:309000
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Thrombocytopen...	OMIM:147791
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced...	ORPHA:980
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d...	OMIM:263520
Vater/Vacterl Association	Renal agenesis, Postnatal growth retardation, Intrauterine growth retardation, Vesicoureteral ref...	OMIM:192350
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Abnormal female e...	ORPHA:95699
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Mitral regurgitation, Renal steatosis, Premature arterio...	ORPHA:391665
Familial Pseudohyperkalemia	Hyperkalemia, Hypertension	ORPHA:90044
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly...	ORPHA:331206
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Has...	ORPHA:64744
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Annular pancreas, Tetralogy of Fallot,...	ORPHA:264450
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Intrauterine growth retardation, Hydronephrosis, Renal cy...	ORPHA:464311
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Abnormal proportion of naive CD4 T cells, Congestive heart failure, Lymphopeni...	ORPHA:1830
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal bladder morphology, Intrauterine growth retardation, Hydronephrosis, Vesicoureteral reflux	ORPHA:453499
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver...	OMIM:261515
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo...	OMIM:614887
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Failure to thrive, Cutaneous abscess, ...	ORPHA:443811
Gaucher Disease	Aortic valve calcification, Pancytopenia, Hematuria, Cirrhosis, Elevated circulating C-reactive p...	ORPHA:355
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrop...	OMIM:619381
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia,...	ORPHA:3243
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Ppoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97278
Atelosteogenesis Type I	Multiple renal cysts, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology	ORPHA:1190
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel...	ORPHA:261265
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia, Joint contracture	OMIM:620443
Anaplastic Thyroid Carcinoma	Goiter, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Lymphadenopathy, Nodular goiter,...	ORPHA:142
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Elevated 8(9)-cholestenol, Hydronephrosis, Short stature, Elevated 8-d...	OMIM:308050
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocy...	OMIM:259720
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Cirrhosis, Hepa...	ORPHA:779
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Short stature, Micropenis, Hypospadias	ORPHA:163979
Cerebellar-Facial-Dental Syndrome	Hydronephrosis, Infancy onset short-trunk short stature, Ureteropelvic junction obstruction, Seve...	ORPHA:444072
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Hypopituitarism, Absent peripheral lymph nodes in presence o...	ORPHA:98813
Biotinidase Deficiency	Hepatomegaly, Splenomegaly, Hyperammonemia, Organic aciduria	OMIM:253260
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hydronephrosis, Micropenis, Vesicoureteral reflux, Pelvic kidney	OMIM:618653
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, High palate,...	OMIM:617022
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami...	OMIM:243800
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Glycopeptid...	OMIM:230000
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent...	OMIM:613471
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Dysphagia, Hypogonadism	OMIM:160900
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Lymphopenia, Hypertriglyceridemia, Ataxia	OMIM:617575
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin...	ORPHA:100085
Senior-Loken Syndrome 8	Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Hepatic cyst...	OMIM:616307
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina...	ORPHA:512
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Ventricular septal defect, ...	OMIM:243150
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Gastrointestinal hemorrhage, Hepatic amyloidosis	OMIM:142680
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve pr...	OMIM:620233
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Intrauterine growth retardation, Hydronephrosis, Renal cy...	ORPHA:464306
Kabuki Syndrome	Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic junction obstruction,...	ORPHA:2322
Atypical Werner Syndrome	Aortic valve stenosis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes me...	ORPHA:79474
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc...	OMIM:619774
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Cryptorchidism	ORPHA:2617
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ...	OMIM:167800
Marden-Walker Syndrome	High, narrow palate, Renal hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, Dextrocardia, ...	OMIM:248700
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism, Dysphagia	ORPHA:97285
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten...	ORPHA:2978
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat...	OMIM:620306
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Occipital Horn Syndrome	Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased circulating ceruloplasmin c...	OMIM:304150
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Cousin Syndrome	Hydronephrosis, Rhizomelia, Disproportionate short stature	OMIM:260660
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve...	ORPHA:363705
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Obes...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic left heart, Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Obes...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Obes...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Obes...	ORPHA:881
3Mc Syndrome 1	Hydronephrosis, Postnatal growth retardation, Growth delay	OMIM:257920
Opsismodysplasia	Renal phosphate wasting, Rhizomelia, Hypophosphatemia, Disproportionate short-limb short stature	OMIM:258480
Au-Kline Syndrome	Chronic kidney disease, Hydronephrosis, Vesicoureteral reflux, Dilatation of the renal pelvis	OMIM:616580
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Meckel Syndrome, Type 1	Abnormality of the ureter, Cryptorchidism, Anal atresia, Polycystic kidney dysplasia, Bile duct p...	OMIM:249000
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated u...	ORPHA:653
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary, Increased serum testosteron...	ORPHA:247768
Trisomy 18	Intrauterine growth retardation, Hydronephrosis, Abnormality of the upper urinary tract, Short st...	ORPHA:3380
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Periportal fibrosis, Hamartoma of tongue, Intestinal malrotation, Ascites, Medi...	OMIM:269860
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Renal insufficiency, Leukoc...	ORPHA:293173
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Ascites, Abnormal morphology of female inter...	ORPHA:538
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia, Eleva...	OMIM:612852
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Congestive heart failure, Lymphopenia, Hepatosplenomegaly, ...	ORPHA:391487
Eec Syndrome	Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Short stature,...	ORPHA:1896
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia...	OMIM:617237
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Type I diabetes mellitus, Gastroesophageal reflux, Elevated circulating hep...	OMIM:619525
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros...	OMIM:201750
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Hypospadias, Male urethral meatus stenosis	ORPHA:464738
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Frontometaphyseal Dysplasia 1	Hydronephrosis, Hydroureter	OMIM:305620
Grange Syndrome	Renal artery stenosis, Renovascular hypertension, Coronary artery stenosis, Carotid artery stenosis	OMIM:602531
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Increased circulating cortisol level, Abnormal lymph nod...	ORPHA:99889
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Macrocytic anemia, Prolonged neon...	OMIM:615512
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Flexion contracture, Pulmonary arterial hypertension, Camptodactyly	OMIM:620029
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Horseshoe kidney, Vesicoureteral reflux, Splenomega...	OMIM:616368
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neoplasm of the thyroid gla...	ORPHA:99867
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneo...	OMIM:609069
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnormal circulating cre...	ORPHA:98908
Williams Syndrome	Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular...	ORPHA:904
Focal Dermal Hypoplasia	Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:2092
Dubowitz Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis, Short stature, Hyp...	ORPHA:235
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach m...	ORPHA:141127
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Coccidioidomycosis	Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the liver, Renal ins...	ORPHA:228123
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid...	ORPHA:96191
Tarp Syndrome	Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis	ORPHA:2886
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Growth delay, Hydronephrosis, Short stature, Enuresis	ORPHA:96121
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Cardiofaciocutaneous Syndrome 1	Hydronephrosis, Short stature	OMIM:115150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemol...	OMIM:102700
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Telangiectasia, Anemia, Raynaud phenomenon, Thrombocy...	OMIM:615934
Nijmegen Breakage Syndrome	Hydronephrosis, Intrauterine growth retardation, Short stature, Recurrent urinary tract infections	OMIM:251260
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi...	ORPHA:469
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Cornelia De Lange Syndrome 1	Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, High palate, Ectopic kidney,...	OMIM:122470
Cardiofaciocutaneous Syndrome	Hydronephrosis, Short stature	ORPHA:1340
Opitz Gbbb Syndrome	Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis, Short stature, Hypospadias	ORPHA:2745
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, A...	ORPHA:581
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydronephrosis, Blad...	OMIM:604292
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Dilated c...	ORPHA:3260
Orofaciodigital Syndrome Type 1	Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency	ORPHA:2750
Generalized Pustular Psoriasis	Hypoalbuminemia, Congestive heart failure, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hypo...	ORPHA:247353
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hydronephrosis, Unilateral renal agenesis, Hypospadias, Postnatal growth retardation	ORPHA:487796
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Truncal obesity, Failure to thrive in infancy, Pulmonic stenosis	ORPHA:529962
Digeorge Syndrome	Hepatic steatosis, Ovarian cyst, Ventricular septal defect, High palate, Renal dysplasia, High, n...	OMIM:188400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Cleft soft palate, Leukocyto...	OMIM:619321
Histiocytoid Cardiomyopathy	Hypoglycemia, Polycystic ovaries, Cardiomegaly, Renal cyst, Ventricular septal defect, Hepatomega...	ORPHA:137675
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Otopalatodigital Syndrome Type 2	Hydronephrosis, Ureteral obstruction, Hypospadias	ORPHA:90652
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism...	OMIM:616975
Cranioectodermal Dysplasia 2	Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Poly...	OMIM:613610
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia...	OMIM:620294
Ulnar-Mammary Syndrome	Renal hypoplasia, Abnormality of the uterus, Breast aplasia, Decreased fertility, Cryptorchidism,...	ORPHA:3138
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia	OMIM:271520
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Multiple bladder diverticula, Gastroesophageal reflux, Ascites, Right ventricul...	OMIM:613177
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrhythmia, Abnor...	ORPHA:906
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Hypoplastic tricuspid ...	ORPHA:2255
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content	OMIM:619259
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid...	OMIM:258040
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation	OMIM:618042
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Glycosuria, Intrauterine growth retardation, Pulmonary artery stenosis, ...	OMIM:600001
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Down Syndrome	Secundum atrial septal defect, Polycythemia, Umbilical hernia, Tetralogy of Fallot, Atrioventricu...	ORPHA:870
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:309120
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Hypoplasminogenemia	Abnormality of the ovary, Nephrolithiasis, Decreased level of plasminogen, Abnormal fallopian tub...	ORPHA:722
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph...	OMIM:617718
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Neurogenic bladder, Ureteropelvic junction obstruction, Growth delay	OMIM:616973
White-Kernohan Syndrome	Horseshoe kidney, Hydronephrosis, Hydroureter	OMIM:619426
Immunodeficiency 23	Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Vasculitis in the skin, Neutropenia, Ataxi...	OMIM:615816
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia, Lympha...	ORPHA:667
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Ascites, Pheochromocyt...	ORPHA:139411
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Urinary bla...	ORPHA:280633
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Kawasaki Disease	Hypoalbuminemia, Strawberry tongue, Sterile pyuria, Hepatitis, Double outlet right ventricle with...	ORPHA:2331
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Dilatation of the renal pelvis, Horseshoe kidney, Tetralogy of Fallot, Hepat...	OMIM:274000
Malakoplakia	Urinary bladder inflammation, Abnormality of the menstrual cycle, Neoplasm of the colon, Urinary ...	ORPHA:556
Von Hippel-Lindau Syndrome	Polycythemia, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Renal cell carcinoma, Hepati...	OMIM:193300
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary...	ORPHA:95494
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Ureteral stenosis, Postnatal growth retardation, Hydronephrosis, Micropenis, Hypospa...	OMIM:269150
Vascular Ehlers-Danlos Syndrome	Cystocele, Hypokalemia, Bladder diverticulum, Short stature, Renovascular hypertension, Hypospadias	ORPHA:286
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Macroglossia, Cardiomegaly, Cryptorchidism	OMIM:618143
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Hypertriglycerid...	ORPHA:369837
Schinzel-Giedion Syndrome	Hypospadias, Annular pancreas, Central hypothyroidism, Anteriorly placed anus, Abnormal heart mor...	ORPHA:798
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Anal atresia...	ORPHA:567
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Hamamy Syndrome	Osteopenia, Hypochromic anemia, Microcytic anemia, Prolonged QRS complex, Mitral regurgitation, C...	OMIM:611174
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Immunodeficiency 92	Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of class-s...	OMIM:619652
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Bifid uvula, Acute kidney injury, Nephronophthisis, Hepatic fibrosis, Cholestasis, Pancreatic cys...	OMIM:266920
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a...	ORPHA:56
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Hypo...	OMIM:618419
Igg4-Related Ophthalmic Disease	Colon cancer, Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Pancre...	ORPHA:449563
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Rhizomelia, Growth delay, Intraute...	ORPHA:818
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Growth delay, Stage 5 chronic k...	ORPHA:2044
Polycythemia Vera	Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leu...	ORPHA:729
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Testicular atrophy	OMIM:601163
X-Linked Hypophosphatemia	Renal phosphate wasting, Disproportionate short stature, Hypocalciuria, Hypophosphatemia, Growth ...	ORPHA:89936
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuffic...	OMIM:260370
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy	OMIM:105210
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Dysphagia	OMIM:230900
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:51
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Nephroblastoma, Cardiomegaly, Abnormal cardi...	ORPHA:97297
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Hydronephrosis, Bladder divertic...	OMIM:129900
Vici Syndrome	Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure, Lymphopenia,...	OMIM:242840
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Primary Sjögren Syndrome	Normocytic anemia, Thyroiditis, Biliary cirrhosis, Xerostomia, Vaginal dryness, Parotitis, Chroni...	ORPHA:289390
Apert Syndrome	Hydronephrosis, Rhizomelic arm shortening	OMIM:101200
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Frontometaphyseal Dysplasia	Hydronephrosis, Ureteral obstruction, Growth delay, Urethral stenosis	ORPHA:1826
Beck-Fahrner Syndrome	Cardiomegaly, High palate, Ventricular septal defect	OMIM:618798
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Growth delay, Renal agenesis, Intrauterine growth retardation, Grade III vesicoureteral...	OMIM:619522
Monosomy 22Q13.3	Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux, Renal dysplasia	ORPHA:48652
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Tubular basement membrane disintegration, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increased mean pla...	OMIM:153670
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Hypon...	ORPHA:90790
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ...	OMIM:620371
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Elevated urinary catechol...	ORPHA:892
Gray Platelet Syndrome	Menorrhagia, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Short stature, Micropenis, ...	OMIM:268310
Behçet Disease	Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Orchitis, Glomerulopathy, Pancrea...	ORPHA:117
Bardet-Biedl Syndrome	Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Hypertriglyceridemia, Hydronephr...	ORPHA:110
Immunodeficiency 9	Failure to thrive, Difficulty walking, Lymphopenia, Hypoplasia of the thymus, Amelogenesis imperf...	OMIM:612782
Mesomelia-Synostoses Syndrome	Hydronephrosis, Mesomelic short stature	OMIM:600383
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Gluc...	OMIM:619127
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentrati...	ORPHA:365
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Postnatal growth retardation, Vesicoureteral reflux, Renal du...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Postnatal growth retardation, Vesicoureteral reflux, Renal du...	ORPHA:363958
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, High palate, Cardiomegaly	ORPHA:2463
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Blau Syndrome	Nephropathy, Xerostomia, Abnormality of the liver, Stage 5 chronic kidney disease, Clear cell ren...	ORPHA:90340
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Disproportionate short-limb short stature, Hypoplas...	ORPHA:1507
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Lymphopenia, Leukopenia, Lethargy, Thrombocytopenia, Melena	ORPHA:319218
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hydronephrosis, Vesicoureteral reflux, Growth delay	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hydronephrosis, Vesicoureteral reflux, Growth delay	ORPHA:352665
Okamoto Syndrome	Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ...	ORPHA:2729
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hepatospleno...	ORPHA:64
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Recurrent urinary tract infections, ...	ORPHA:331235
Noonan Syndrome	Osteopenia, Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal...	ORPHA:648
Familial Adenomatous Polyposis 4	Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou...	OMIM:617100
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia	ORPHA:2268
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea...	OMIM:615935
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Short stature	ORPHA:97360
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality...	ORPHA:2072
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Bicuspid aortic valve, Tachycardia, Obesity	ORPHA:1772
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Pericardial effusion...	OMIM:181000
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Orofaciodigital Syndrome I	Hepatic fibrosis, Hamartoma of tongue, Ankyloglossia, Abnormal heart morphology, Hepatic cysts, O...	OMIM:311200
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Osteogenesis Imperfecta, Type Vii	Hydronephrosis, Rhizomelia, Short stature	OMIM:610682
Melnick-Needles Syndrome	Hydronephrosis, Ureteral stenosis	OMIM:309350
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Hepatomegaly	ORPHA:163746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co...	OMIM:615287
Charge Syndrome	Horseshoe kidney, Postnatal growth retardation, Intrauterine growth retardation, Vesicoureteral r...	ORPHA:138
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormality of the urinary system, Growth delay, Recurrent urinary tract infections, Vesicoureter...	ORPHA:353281
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Hydronephrosis, Nephrotic syndrome	OMIM:601776
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Abnormality of the urinar...	ORPHA:1199
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Severe short stature, Abnormality of the urinary system, Hydroureter, Intrauterine growth retarda...	ORPHA:2636
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Hypothyroidism, Tubulointerstitial fibrosis, Lymphadenopathy, Neu...	OMIM:607944
Peters Plus Syndrome	Multicystic kidney dysplasia, Rhizomelia, Disproportionate short-limb short stature, Postnatal gr...	ORPHA:709
Hepatoerythropoietic Porphyria	Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulating porphyrin concentratio...	ORPHA:95159
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hydronephrosis, Duplicated collecting system, Ureteropelvic junction obstruction	OMIM:280000
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnormal mitral valve morpholo...	ORPHA:1876
Kabuki Syndrome 1	Growth delay, Postnatal growth retardation, Crossed fused renal ectopia, Ureteropelvic junction o...	OMIM:147920
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hydronephrosis, Postnatal growth retardation, Intrauterine growth retardation, Micropenis	ORPHA:83617
Spondyloepimetaphyseal Dysplasia, Krakow Type	High palate, Decreased serum insulin-like growth factor 1, Annular pancreas, Atrial septal defect	OMIM:618162
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Aplasia of the e...	OMIM:617088
Lymphatic Malformation 6	Gastroesophageal reflux, Intestinal lymphangiectasia, Ascites, Splenomegaly, Hypothyroidism, 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	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Portal hypertension, Absence of subcutan...	OMIM:620005
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Whim Syndrome	Cellulitis, Tetralogy of Fallot, Lymphopenia, Abnormal neutrophil morphology, Limb ataxia, Neutro...	ORPHA:51636
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Ascites, Chronic noninfectious lymphadenopathy, ...	ORPHA:100086
Friedreich Ataxia 2	Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal EKG, Concentric hypertro...	OMIM:601992
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cushing Disease	Lymphopenia, Dorsocervical fat pad, Capillary fragility, Leukocytosis, Increased body weight, Tru...	ORPHA:96253
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Floating-Harbor Syndrome	Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Short stature, Hypospadias, Congenital p...	OMIM:136140
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Alternating Hemiplegia Of Childhood	Failure to thrive, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, A...	ORPHA:2131
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Reduced C-pepti...	ORPHA:556955
Arboleda-Tham Syndrome	Hydronephrosis, Intrauterine growth retardation, Growth delay, Recurrent urinary tract infections	OMIM:616268
African Trypanosomiasis	Abnormality of the menstrual cycle, Infertility, Hepatosplenomegaly, Renal insufficiency, Splenom...	ORPHA:3385
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis,...	ORPHA:438213
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Intrauterine growth retardation, Hydronephr...	ORPHA:3310
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Left ventricular noncompaction, Left ventricular no...	OMIM:300967
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Postnatal growth retardation, Intrauterine growth retardation, Hyd...	OMIM:135900
Gabriele-De Vries Syndrome	Hydronephrosis, Intrauterine growth retardation, Ureteropelvic junction obstruction	ORPHA:506358
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Gonadal calcification, Decreased fertility, Hematuria, Mitral valve calc...	ORPHA:60025
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the urinary system, Recurrent urinary tract infections, Postnatal growth retardati...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the urinary system, Recurrent urinary tract infections, Postnatal growth retardati...	ORPHA:353277
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Campomelic Dysplasia	Hydronephrosis, Neonatal short-limb short stature, Hypospadias, Disproportionate short-limb short...	OMIM:114290
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Failure to thrive, Umbilical hernia, Microcytic anemia, Leukocytosis, Impaired tand...	ORPHA:99843
Robinow Syndrome, Autosomal Dominant 1	Rhizomelia, Renal duplication, Hydronephrosis, Micropenis, Short stature	OMIM:180700
Knobloch Syndrome	Bifid ureter, Vesicoureteral reflux, Dextrocardia, Lymphangioma, Pyloric stenosis	ORPHA:1571
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope...	OMIM:301000
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Anteriorly placed anus, Hypogonadism, Cryptorchidism, High palate	OMIM:268400
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept...	ORPHA:3384
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Reduced circulating transferrin ...	ORPHA:90363
Doors Syndrome	Hydronephrosis, Nephrocalcinosis, Abnormality of the urinary system, Increased urine alpha-ketogl...	ORPHA:79500
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par...	ORPHA:79078
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Abnorm...	ORPHA:2273
Congenital Tracheomalacia	Gastroesophageal reflux, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defec...	ORPHA:95430
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Disproportionate short-limb short stature, Hydronephrosis, Renal cyst, Hypoplas...	ORPHA:93271
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Ankyloglossia, Annular pancreas, Cleft palate	ORPHA:488642
Rubinstein-Taybi Syndrome 1	Growth delay, Postnatal growth retardation, Hydronephrosis, Short stature, Hypospadias	OMIM:180849
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Yunis-Varon Syndrome	High, narrow palate, Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery sten...	ORPHA:3472
Lacrimoauriculodentodigital Syndrome	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux	ORPHA:2363
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Wiedemann-Rautenstrauch Syndrome	Growth delay, Recurrent urinary tract infections, Wide penis, Intrauterine growth retardation, Ve...	ORPHA:3455
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Cleft palate	ORPHA:158687
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydronephrosis, Abnormal renal morphology, Short stature, Renal hypoplasia/aplasia	ORPHA:363700
Cutaneous Neuroendocrine Carcinoma	Merkel cell skin cancer, Lymphoid leukemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:79140
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Adrenal calcificat...	ORPHA:51608
Hydrolethalus Syndrome 1	Hydronephrosis, Intrauterine growth retardation, Hypospadias	OMIM:236680
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, Secondary ame...	OMIM:157640
Peters-Plus Syndrome	Renal hypoplasia, Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retarda...	OMIM:261540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade...	ORPHA:424016
Woodhouse-Sakati Syndrome	Osteopenia, Insulin-resistant diabetes mellitus, Abnormal T-wave, Hyperinsulinemia, Hyperlipidemi...	ORPHA:3464
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Hypocalcemia	OMIM:620330
Charge Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Postnatal growth retardation, Hypocalcemia, H...	OMIM:214800
Sotos Syndrome	Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction...	ORPHA:821
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Testicular atrophy, High palate,...	ORPHA:3063
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly, Aplasia of the swe...	OMIM:612132
Malt Lymphoma	Anemia, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Viss Syndrome	Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Celiac...	OMIM:619472
Focal Dermal Hypoplasia	Horseshoe kidney, Bifid ureter, Hydronephrosis, Short stature, Ureteral duplication	OMIM:305600
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Reduced bone mineral density, Inguinal hernia	ORPHA:935
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Intrauterine growth retar...	OMIM:194050
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Otopalatodigital Syndrome, Type Ii	Hydronephrosis, Postnatal growth retardation, Hypospadias, Short stature	OMIM:304120
Plague	Inflammation of the large intestine, Lymphadenitis, Splenomegaly, Ileitis, Enterocolitis, Hematem...	ORPHA:707
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic...	ORPHA:536
Woodhouse-Sakati Syndrome	Hyperlipidemia, Choreoathetosis, Diabetes mellitus, Abnormal T-wave	OMIM:241080
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Delayed puberty, Short stature, Renal dysplasia	ORPHA:480880
Riddle Syndrome	Enuresis nocturna, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration	ORPHA:420741
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai...	ORPHA:35078
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:606170
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Acrofacial Dysostosis, Cincinnati Type	Hydronephrosis, Intrauterine growth retardation, Short stature	OMIM:616462
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Bicuspid aortic valve, Chord...	ORPHA:2152
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Small scrotum, Im...	OMIM:181450
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro...	ORPHA:261537
Osteogenesis Imperfecta	Rhizomelia, Intrauterine growth retardation, Nephrolithiasis, Hypercalciuria, Short stature, Grow...	ORPHA:666
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypophosphaturia, Hypocalciuria	ORPHA:73223
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, R...	ORPHA:261552
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, 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 chronic inflammation	Clcnkb^em1(IMPC)Mbp	HOM	Late adult
Kidney - MPATH pathological process term hyperplasia	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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
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

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X-ray

X-ray

X-ray

Histopathology

Histopathology

Human diseases caused by Clcnkb mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data