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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
abnormal skin morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased mean corpuscular volume	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.15×10^-08
enlarged kidney	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating cholesterol level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.19×10^-08
increased circulating creatinine level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.93×10^-05
small kidney	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased red blood cell distribution width	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	3.36×10^-06
decreased lymphocyte cell number	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.63×10^-05
improved glucose tolerance	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.93×10^-17
abnormal skin morphology	Clcnkb^em1(IMPC)Mbp	HOM	Early 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
decreased mean corpuscular hemoglobin	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	5.04×10^-08
increased grip strength	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	6.16×10^-07
improved glucose tolerance	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.53×10^-06
abnormal lymph node morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart shape	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating creatinine level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	1.68×10^-14
increased neutrophil cell number	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.46×10^-06
decreased heart weight	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.54×10^-11
enlarged liver	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal pancreas morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal cholesterol homeostasis	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	8.14×10^-08
abnormal spleen morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal stomach morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
shortened QRS complex duration	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	6.47×10^-05
abnormal liver morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating alkaline phosphatase level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	2.28×10^-18
decreased locomotor activity	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.61×10^-05
increased lean body mass	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.90×10^-10
increased blood urea nitrogen level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.34×10^-23
decreased total body fat amount	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.32×10^-10
enlarged heart	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased fasting circulating glucose level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	4.00×10^-10
increased basophil cell number	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	2.89×10^-05
abnormal urinary bladder morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating calcium level	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	3.60×10^-05
abnormal heart morphology	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	0.00
increased blood urea nitrogen level	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	6.59×10^-12
abnormal ovary morphology	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged urinary bladder	Clcnkb^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal bone structure	Clcnkb^em1(IMPC)Mbp	HOM	Early adult	1.01×10^-06

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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

82 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

30 Images

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Histopathology

Images

4 Images

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Histopathology

Images

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Human diseases caused by Clcnkb mutations

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

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

Human diseases associated with Clcnkb (4 diseases)
Human diseases predicted to be associated with Clcnkb (1944 diseases)

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

Disease	Matching phenotypes	Source
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Metabolic alkalosis, Hypomagnesem...	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	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale...	ORPHA:427
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556037
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ...	OMIM:203400
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr...	OMIM:601678
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556030
Hypocalcemia, Autosomal Dominant 1	Short stature, Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, ...	OMIM:601198
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Short stature, Renal salt wasting, ...	OMIM:241200
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Short stature, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-w...	OMIM:604278
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Short stature, Nephrogenic diabetes insipidus, Functional abnor...	ORPHA:223
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Growth delay, Metabolic acidosis, Hypokalemia, Distal renal tub...	OMIM:602722
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:18
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl...	ORPHA:73224
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn...	OMIM:620152
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ...	ORPHA:31824
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev...	OMIM:300539
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Orthostatic hypotension,...	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	Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalci...	OMIM:612780
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Short stature, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal tubul...	OMIM:611590
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, Chronic kidney ...	OMIM:613845
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Short stature, Abnormal urine sodium concen...	ORPHA:320
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Growth delay, ...	OMIM:263800
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Hypovolemia, Bicarbonaturia,...	ORPHA:47159
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec...	OMIM:613677
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Hypoargininemia, Increa...	OMIM:615751
Liddle Syndrome 1	Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:177200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost...	OMIM:264350
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Peripheral arter...	ORPHA:90041
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Type 1 Diabetes Mellitus	Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Growth delay, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Inc...	OMIM:214700
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Postnatal growth retardation, Chronic ac...	OMIM:227810
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci...	ORPHA:90791
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ...	OMIM:232700
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg...	OMIM:308990
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating th...	OMIM:617872
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Sho...	ORPHA:90794
Microvillus Inclusion Disease	Nephrocalcinosis, Hypovolemia, Abnormal renal physiology	ORPHA:2290
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin...	ORPHA:90068
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Primary ...	OMIM:612526
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var...	ORPHA:75234
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism,...	ORPHA:171876
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Renal salt was...	ORPHA:275761
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Hypophosphatemia, Renal tubular dysfunction, Ami...	ORPHA:213
Preeclampsia	Elevated hepatic transaminase, Helicobacter pylori infection, Proteinuria, Abnormality of the kid...	ORPHA:275555
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi...	OMIM:615703
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga...	ORPHA:85450
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Decr...	OMIM:232220
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Ren...	ORPHA:90795
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Short stature, Chronic kidney disease, Hyperkalemia, Oliguria, Renal h...	ORPHA:97362
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Apparent Mineralocorticoid Excess	Short stature, Growth delay, Hypertension, Hypokalemia, Decreased circulating aldosterone level, ...	OMIM:218030
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Elevated urinary prostaglandin E2 level	OMIM:167100
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar...	ORPHA:85138
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Dysmenorrhea, Hepatic fibrosis, Fasting hypog...	ORPHA:264580
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi...	OMIM:276700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Macdermot-Winter Syndrome	Intrauterine growth retardation, Hydronephrosis	OMIM:247990
Familial Hyperaldosteronism Type Iii	Metabolic alkalosis, Hypokalemia, Hypercalciuria	ORPHA:251274
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Nephrolithiasis, Alkalosis	OMIM:219090
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ...	OMIM:620300
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog...	OMIM:611555
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Megacystis, Hypernatremia, Diabetes insipidus	OMIM:304800
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyperal...	OMIM:615474
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala...	OMIM:608836
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Cholera	Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Lactic ...	ORPHA:173
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ...	ORPHA:543
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome...	OMIM:242530
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614495
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Hype...	ORPHA:79237
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop...	OMIM:613388
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria	OMIM:617671
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hyperte...	ORPHA:231632
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur...	OMIM:239200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul...	OMIM:616239
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypertension, Microscopic hematuria	ORPHA:2613
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Metabolic alkalosis, Hypokalemia, Nephrolithiasis	ORPHA:369929
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614496
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventri...	OMIM:212138
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati...	ORPHA:91547
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypoglycemia, Hyperc...	ORPHA:199299
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Malabsorpt...	ORPHA:168569
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Rhabdoid Tumor	Hypercalcemia, Weight loss, Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Macroglossia, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, Neph...	OMIM:617303
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As...	OMIM:615415
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,...	ORPHA:159
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor...	ORPHA:91387
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, ...	ORPHA:79259
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal...	ORPHA:528
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin...	ORPHA:3467
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Decreased glomerular filt...	OMIM:232200
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Pituitary growth hormone cell adenoma, Recurrent u...	ORPHA:730
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoaciduria, Hypoka...	OMIM:617913
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Nephrotic Syndrome, Type 17	Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M...	OMIM:618176
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret...	ORPHA:195
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate, Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Marburg Hemorrhagic Fever	Shock, Renal insufficiency, Tachycardia, Pericarditis, Elevated circulating creatine kinase conce...	ORPHA:99826
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia, Anemia	ORPHA:2668
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Citrullinemia, Classic	Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated...	OMIM:215700
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Metabolic acidos...	OMIM:615605
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine	ORPHA:391457
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Image Syndrome	Intrauterine growth retardation, Hypospadias, Hydronephrosis	ORPHA:85173
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydroureter, Hydronephrosis	OMIM:618240
Hypophosphatasia	Anemia, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis	ORPHA:436
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Cryptorchidism, Elevated circulating creatinine concentration, Ch...	OMIM:608104
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Short stature, Hydronephrosis	ORPHA:85285
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Hydroxykynureninuria	Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension	ORPHA:79155
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Short stature, Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone leve...	OMIM:202010
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Hyperkalemia, Growth delay, Arrhythmia, Elevated creatine kinase after exercise, A...	ORPHA:57
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Kaposiform Lymphangiomatosis	Metrorrhagia, Pericardial effusion, Splenomegaly, Pancreatic cysts, Thrombocytopenia, Abnormality...	ORPHA:464329
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Dominant Beta-Thalassemia	Diabetes mellitus, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:231226
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Hepatoportal Sclerosis	Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei...	ORPHA:64743
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c...	OMIM:311250
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Leprechaunism	Postnatal growth retardation, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidis...	ORPHA:508
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp...	ORPHA:263501
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis, Severe short stature	OMIM:204730
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria	OMIM:239199
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas...	ORPHA:94093
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm...	OMIM:137920
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal...	ORPHA:188
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,...	ORPHA:94086
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Anemia	OMIM:610539
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h...	ORPHA:31826
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia	OMIM:615996
Argininosuccinic Aciduria	Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaci...	OMIM:207900
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hematuria, Hypotension...	ORPHA:549
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co...	OMIM:618183
Meckel Syndrome, Type 8	Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechoge...	OMIM:613885
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca...	OMIM:601005
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria	OMIM:560000
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Prostate cancer, Neutropenia, Hepatospleno...	ORPHA:158057
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Teratoma, Pineal	Polyuria	OMIM:273120
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat...	ORPHA:230
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Meningococcal Meningitis	Hypotension, Renal insufficiency, Shock, Elevated circulating C-reactive protein concentration	ORPHA:33475
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Hyperinsulinemia, Abnorma...	ORPHA:2849
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Metabolic alkalosis, Hypomagnesem...	ORPHA:358
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti...	ORPHA:199296
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Ethanolaminosis	Cardiomegaly	OMIM:227150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, A...	OMIM:154230
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated c...	ORPHA:54251
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu...	OMIM:274150
Pearson Syndrome	Elevated lactate:pyruvate ratio, Renal insufficiency, Proteinuria, Increased serum lactate, Postn...	ORPHA:699
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Intracranial hemorrhage, Decrease...	OMIM:241500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Short stature, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, ...	OMIM:616026
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Obesity, Hypertension, Increa...	ORPHA:251004
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki...	OMIM:300009
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:94080
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc...	ORPHA:90301
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Abnormality of the kidney...	ORPHA:369
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ...	OMIM:224120
Fanconi Anemia, Complementation Group O	Hydronephrosis, Short stature, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Muscular Dystrophy, Becker Type	Cardiomyopathy, Arrhythmia, Abnormal EKG, Elevated circulating creatine kinase concentration	OMIM:300376
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno...	OMIM:214900
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Hyperalaninemia, Lactica...	OMIM:619003
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Myocardial infarction, Sudden cardiac death, Os...	OMIM:610947
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Growth delay...	OMIM:617595
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Short stature, Hypotension	ORPHA:369873
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con...	OMIM:620366
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce...	OMIM:210250
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Beckwith-Wiedemann Syndrome	Ureteral duplication, Neonatal hypoglycemia, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma,...	ORPHA:116
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Osteootohepatoenteric Syndrome	Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration	OMIM:619377
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro...	OMIM:301033
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca...	ORPHA:439232
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,...	OMIM:608978
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph...	ORPHA:417
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ...	ORPHA:465508
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret...	OMIM:614732
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy...	OMIM:616733
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration, Carnosinuria	OMIM:309930
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,...	ORPHA:99147
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Renal corticomedu...	OMIM:243910
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo...	OMIM:300554
Adamantinoma	Hypercalcemia	ORPHA:55881
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hyperammonemia, Cardiomyopathy...	ORPHA:79312
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Macroglossia, Heparan sulfate excretion in urine, Thrombocytopenia, Abnormal heart m...	ORPHA:505248
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Rabson-Mendenhall Syndrome	Short stature, Long penis, Nephrocalcinosis, Diabetic ketoacidosis, Severe postnatal growth retar...	ORPHA:769
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration...	ORPHA:157215
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Hypotonia-Cystinuria Syndrome	Increased serum lactate, Postnatal growth retardation, Nephrolithiasis, Cystinuria, Lactic acidos...	OMIM:606407
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated...	OMIM:201475
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Decreased serum creati...	ORPHA:54057
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Monosomy 13Q34	Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Common at...	ORPHA:96168
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Neonatal hypoglycemia,...	OMIM:130650
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Short stature, Hypophosphatemia	OMIM:193100
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia	OMIM:615863
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Scrub Typhus	Myocarditis, Renal insufficiency, Hypotension	ORPHA:83317
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Ovarian Hyperstimulation Syndrome	Increased circulating gonadotropin level, Capillary leak, Hypovolemia, Increased serum testostero...	ORPHA:64739
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy	ORPHA:99976
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis	OMIM:179010
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Metabolic alkalosis, Hypokalemia	ORPHA:786
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypoh...	OMIM:617744
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate...	ORPHA:2088
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, C...	OMIM:616222
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu...	OMIM:300972
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic...	ORPHA:289504
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg...	ORPHA:79083
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Card...	OMIM:618278
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ...	OMIM:232400
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,...	ORPHA:45452
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Bacterial Toxic-Shock Syndrome	Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ...	ORPHA:36234
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Short stature	OMIM:613312
Citrullinemia Type I	Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia	ORPHA:247525
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome...	ORPHA:79301
Scorpion Envenomation	Respiratory alkalosis, Abnormality of acid-base homeostasis, Ketonuria, Increased circulating NT-...	ORPHA:466677
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t...	OMIM:314390
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79333
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Respiratory alkalosis, Hyperammonemia, Hyperornithinemia, Oroticaciduria, Abnormal circulating ci...	ORPHA:415
Pseudohypoaldosteronism Type 2	Growth delay, Hypertension, Hyperkalemia, Short stature	ORPHA:757
Infantile Myofibromatosis	Bone cyst, Osteolysis, Hypercalcemia, Chondrocalcinosis	ORPHA:2591
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Flexion contracture, Aminoaciduria, Camptodactyly, Failure to thrive	OMIM:604273
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Short stature, Proximal renal tubular acidosis	OMIM:179830
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles...	ORPHA:69663
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Diabetes mellitus, Cardiomyopathy, Progressive gait ataxia, Progressive cerebellar ...	ORPHA:1177
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ...	ORPHA:228308
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Fibrous Dysplasia Of Bone	Thin bony cortex, Antalgic gait, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous dysplasi...	ORPHA:249
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Beta-Ketothiolase Deficiency	Ketonuria, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension	ORPHA:134
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Falls, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosi...	OMIM:602579
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypoammonemia, Inc...	ORPHA:534
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Hypo...	OMIM:237300
Distal Duplication 6P	Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati...	ORPHA:1745
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ...	ORPHA:2470
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:540
Galactosemia I	Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated ci...	OMIM:619048
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic...	ORPHA:447
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydroneph...	OMIM:615926
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc...	ORPHA:100083
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Abnormality...	ORPHA:210110
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut...	ORPHA:281090
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia...	ORPHA:681
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Tetraploidy	Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Leukocytosis, Neutropenia, Abnormal heart morphol...	ORPHA:391673
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Short stature, Hydronephrosis	OMIM:618265
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp...	ORPHA:466650
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, In...	ORPHA:90321
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat...	OMIM:209010
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy	ORPHA:42642
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Pyloric stenosis, Cleft...	ORPHA:96184
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized lymphadenopathy, Abdo...	ORPHA:160
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, H...	ORPHA:276580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo...	ORPHA:244242
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia	ORPHA:99828
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy	OMIM:608540
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Renal insufficiency, Hyperammonemia	ORPHA:28
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic seizure...	ORPHA:276575
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Metabolic acidosis, Hyperphosphatemia, Myo...	ORPHA:423
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Intrahepatic cholestasi...	OMIM:602347
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, High palate, Maturity-onset diabetes of the young	ORPHA:254531
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypocalcemia, Cystinuria	ORPHA:163693
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O...	ORPHA:319213
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat...	OMIM:613179
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Oculoskeletodental Syndrome	Hypercalcemia, Enamel hypoplasia, Hypocalcemia	ORPHA:557003
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of ...	ORPHA:247691
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Gastroesophageal reflux, Splenic cy...	OMIM:618188
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i...	ORPHA:397596
Laron Syndrome	Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercho...	ORPHA:633
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Abnormal liver lobulation,...	OMIM:608022
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri...	ORPHA:263297
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Elevated circulating creatine kinase concentration, First degree atrioventricular ...	OMIM:310300
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon...	OMIM:557000
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria	ORPHA:35
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal...	OMIM:610198
Pde4D Haploinsufficiency Syndrome	Hypospadias, Postnatal growth retardation, Elevated circulating parathyroid hormone level, Hypote...	ORPHA:439822
Recombinant Chromosome 8 Syndrome	Growth delay, Postnatal growth retardation, Hydronephrosis	OMIM:179613
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non...	OMIM:603909
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue...	OMIM:194080
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Oliguria, Bradycardia, Hypote...	ORPHA:90051
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Oculoskeletodental Syndrome	Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Lacunar stroke...	OMIM:618440
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Villous atrophy, Ventricular septal defect, Hepatic cyst...	ORPHA:79328
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Renal cortical adenoma, Pa...	ORPHA:97290
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Infant Botulism	Hyponatremia, Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Neon...	OMIM:223360
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficiency, Abnormal re...	OMIM:182290
Serotonin Syndrome	Hypertension, Tachycardia, Acute kidney injury, Hypotension	ORPHA:43116
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly...	ORPHA:2348
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm...	ORPHA:860
Propionic Acidemia	Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, Hyperglycinuri...	OMIM:606054
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Hydronephrosis	OMIM:620141
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Waddling gait, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphat...	OMIM:156400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Colitis, Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormal fallopian tube morphology, Splenomegaly, Pancre...	ORPHA:1655
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hepatic steatosis, Hypothyroidis...	ORPHA:93111
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Cardiomyopathy, ...	ORPHA:746
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Coronary artery calcification, Myocardial infarction, Carotid artery calcification...	OMIM:208000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Primary Intestinal Lymphangiectasia	Pericardial effusion, Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbumi...	ORPHA:90362
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Leukopeni...	ORPHA:27
Cranioectodermal Dysplasia 1	Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubu...	OMIM:218330
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Wolcott-Rallison Syndrome	Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno...	ORPHA:1667
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Leuk...	OMIM:251000
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, N...	ORPHA:289916
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Lym...	OMIM:619750
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid...	ORPHA:276556
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis	OMIM:617219
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:616050
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:276621
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morp...	ORPHA:234
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis...	OMIM:618935
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Cardiac arrest, Dilated cardiomyopathy, Hyperammonemia, 3-Methylglutaric aciduria, Hyp...	ORPHA:20
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Hematuria, Focal segmental g...	OMIM:232240
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to...	ORPHA:890
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Williams-Beuren Region Duplication Syndrome	Short stature, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab...	OMIM:251120
Muscular Dystrophy, Duchenne Type	Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart...	OMIM:310200
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Netherton Syndrome	Aminoaciduria, Short stature, Hydronephrosis, Ectopic kidney	ORPHA:634
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio...	ORPHA:69076
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Pancytopenia, In...	OMIM:603553
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Asci...	ORPHA:75233
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Acu...	ORPHA:99812
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Osteolysis, Sclerosis of skull base, Osteosclerosis of the ulna, Hydroxyprolinuria	OMIM:602080
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Chronic kidney...	OMIM:615630
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci...	OMIM:614576
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Growth delay, Intrauterine growth retardation, Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg...	OMIM:222300
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Pulmonary venou...	ORPHA:90060
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Severe postnatal growth retardati...	ORPHA:2237
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Acute Liver Failure	Acidosis, Hyperammonemia, Acute kidney injury, Alkalosis	ORPHA:90062
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Failure to thrive, Hypercalcemia, Gait ataxia	ORPHA:476126
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E...	ORPHA:2394
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Hy...	ORPHA:2169
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Hydronephrosis	ORPHA:531151
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Neut...	ORPHA:47
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Macroglossia, Muco...	OMIM:252500
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Bone cyst, Osteolysis, Gait disturbance, Hypocalcemia, Abnormal adipose tissue morp...	ORPHA:93160
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Toluene Embryopathy	Short stature, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria	OMIM:145980
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasti...	OMIM:612089
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal...	ORPHA:53035
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619064
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp...	OMIM:301045
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Ne...	OMIM:619418
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Hypotension, Inc...	ORPHA:36238
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Joubert Syndrome 37	Micropenis, Short stature, Hydronephrosis	OMIM:619185
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Abnormal heart morpho...	ORPHA:369837
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri...	OMIM:614921
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Autoimmune Hypoparathyroidism	Prolonged QT interval, Increased bone mineral density, Ventricular arrhythmia, Abnormal left vent...	ORPHA:36913
Tetrasomy 15Q26	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	OMIM:614846
Babesiosis	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Postnatal growth retardation, Conjugated hyperbilirubinemia, Hypera...	OMIM:617093
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro...	OMIM:613404
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper...	OMIM:619046
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal...	ORPHA:100078
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Hypotension	OMIM:615668
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Gastroesophageal reflux, Atrial septal defect, Microgastria, Hepatomeg...	ORPHA:2538
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Ileus, Hepatitis,...	OMIM:304790
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, Type II diabetes mellit...	ORPHA:401923
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Alagille Syndrome 1	Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Atrial ...	OMIM:118450
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, ...	ORPHA:79303
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypo...	ORPHA:3452
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob...	ORPHA:1333
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-...	ORPHA:85443
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperur...	ORPHA:77296
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Smith-Magenis Syndrome	Hypertriglyceridemia, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Ab...	ORPHA:819
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, Splenomegaly, O...	OMIM:259700
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism	ORPHA:93256
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia	OMIM:614741
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf...	OMIM:618805
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Macroglossia, Abnormality of the liver, High palate, Decreased circulating carnitin...	ORPHA:254864
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcem...	OMIM:212750
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, ...	ORPHA:37042
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hy...	OMIM:235555
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism,...	ORPHA:90065
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Weight loss	ORPHA:97289
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Thrombocytopenia, Type I diabete...	ORPHA:290
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Generalized osteosclerosis, Hypocalcemia, Anemia	ORPHA:53
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Axial Mesodermal Dysplasia Spectrum	Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localiza...	ORPHA:1834
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Nephrotic s...	ORPHA:39041
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Crypto...	ORPHA:1194
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ...	ORPHA:436271
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, H...	OMIM:619487
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hypospadias, Hydronephrosis	OMIM:220210
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft palate, Mitral valve...	OMIM:612561
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc...	OMIM:255160
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
22Q11.2 Duplication Syndrome	Growth delay, Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular...	OMIM:307800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos...	OMIM:220110
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c...	OMIM:614702
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati...	ORPHA:228305
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Stevens-Johnson Syndrome	Abnormality of the urethra, Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria	ORPHA:36426
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemic alkalosis	OMIM:202110
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse bon...	OMIM:264700
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive...	ORPHA:29072
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Hyperglycemia, Unsteady gait, Type II diabetes mellitus	OMIM:520000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Difficulty walkin...	OMIM:600081
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Trisomy 17P	Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k...	ORPHA:261290
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Ambiguous...	OMIM:613091
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas...	OMIM:610377
Congenital Enterovirus Infection	Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension	ORPHA:292
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Malabsorption, Hypothyroidism, Iron deficiency anemia, Hypo...	OMIM:226300
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges...	ORPHA:727
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Vipoma	Diabetes mellitus, Hypercalcemia, Weight loss, Hematochezia, Hypokalemia, Normochromic anemia, Su...	ORPHA:97282
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Glucocorticoid Resistance, Generalized	Metabolic alkalosis	OMIM:615962
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam...	OMIM:246450
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase...	OMIM:300946
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Atrial s...	OMIM:619471
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Cleft ...	OMIM:620210
Leptospirosis	Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su...	ORPHA:509
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron...	OMIM:606003
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop...	OMIM:227646
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Diabetic Embryopathy	Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:1926
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Congestive heart...	ORPHA:247353
Trisomy 13	Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus, Hydronephro...	ORPHA:3378
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Growth delay, Hydronephrosis	ORPHA:488613
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Kury-Isidor Syndrome	Growth delay, Hydronephrosis	OMIM:619762
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig...	OMIM:612651
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Hypochromic microcytic anemia, Wei...	ORPHA:97283
Nipah Virus Disease	Hypotension	ORPHA:99825
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Esophag...	ORPHA:367
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis	OMIM:613861
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Acanthocytosis, Weight loss, Normo...	ORPHA:97280
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glo...	ORPHA:91138
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Short stature, Elevated circulating creatine kinase co...	OMIM:301056
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Hemolytic-uremic syndrome, Postnatal...	OMIM:611209
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased...	ORPHA:435660
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp...	ORPHA:567983
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Dilatation of the sinus o...	ORPHA:1054
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of the urinary system	ORPHA:2204
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar...	ORPHA:220393
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Increased serum seroton...	ORPHA:100080
Double Outlet Right Ventricle	Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m...	ORPHA:3426
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect...	ORPHA:2306
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Abnormal h...	OMIM:214110
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ...	OMIM:248370
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia	OMIM:244460
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H...	OMIM:610644
Perry Syndrome	Hypotension	ORPHA:178509
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Isolated Atp Synthase Deficiency	Hepatomegaly, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic acidur...	ORPHA:254913
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin ...	ORPHA:79085
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Sp...	ORPHA:30391
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Increased...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Increased...	ORPHA:100082
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hemolytic anemia, Gastritis, Splenomegal...	ORPHA:809
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Gastrointestinal dysmotility, Hyperammonemia, Dysphagia, Hypertrophic...	ORPHA:391428
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Growth delay, Decreased serum zinc, Intrauterine growth retardation...	ORPHA:541423
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype...	ORPHA:156
Adult Acute Respiratory Distress Syndrome	Shock, Diabetic ketoacidosis, Vasculitis, Hypotension	ORPHA:70578
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Gastroesophageal reflux, Increased blood urea nitr...	OMIM:223900
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypo...	ORPHA:84064
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Exaggerated median tongue furrow,...	OMIM:312870
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Glo...	ORPHA:2137
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o...	OMIM:619705
Mesomelia-Synostoses Syndrome	Short stature, Hydronephrosis	ORPHA:2496
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Noonan Syndrome 12	Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Supravalvular aort...	OMIM:618624
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Cln3 Disease	Ataxia, Vacuolated lymphocytes, Bradykinesia, T-wave inversion, Shuffling gait, Bradycardia, Left...	ORPHA:228346
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy...	ORPHA:314588
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur...	ORPHA:289157
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia...	OMIM:617591
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev...	OMIM:620138
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Intrauterine growth retardation, Hypoproteinemia...	ORPHA:2315
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Microglossia, Myocardial fibrosis, Pericardial constriction, Nephrobl...	OMIM:253250
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia	OMIM:612736
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Cryptorchid...	OMIM:615381
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:79319
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Budd-Chiari Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ...	ORPHA:131
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Ataxia, Telangiectasia of the skin, Gait disturbance, Type ...	ORPHA:100
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circul...	OMIM:615688
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diabetes mellitus, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypoc...	ORPHA:544482
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna...	OMIM:601346
Melnick-Needles Syndrome	Vesicoureteral reflux, Short stature, Hydronephrosis	ORPHA:2484
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-...	ORPHA:79086
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Igg4-Related Aortitis	Hydronephrosis, Elevated circulating C-reactive protein concentration	ORPHA:449400
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Galactose Mutarotase Deficiency	Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function	ORPHA:570422
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat...	ORPHA:353298
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, ...	ORPHA:3386
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Micropenis, Hypospadias, Hydronephrosis	OMIM:616897
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, Cl...	OMIM:612562
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Zaki Syndrome	Renal agenesis, Hydronephrosis, Short stature	OMIM:619648
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce...	OMIM:614859
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptak...	ORPHA:90674
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ventricular sept...	OMIM:615673
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:94090
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Micro Syndrome	Hypoplasia of penis, Short stature, Abnormal localization of kidney, Delayed puberty, Intrauterin...	ORPHA:2510
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:203800
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Hypersplenism, Throm...	ORPHA:77259
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt...	OMIM:150550
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, L...	ORPHA:47612
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Short stature, Hydronephrosis	ORPHA:364028
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:435651
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79332
Parathyroid Carcinoma	Hypercalcemia, Shortened QT interval, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondr...	ORPHA:143
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo...	OMIM:263400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani...	OMIM:266150
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Iron deficiency anemi...	OMIM:618885
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd...	ORPHA:1297
Intellectual Disability, Buenos-Aires Type	Short stature, Hydronephrosis	ORPHA:3079
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminot...	OMIM:261680
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Pulmonary arteriovenous malformation, Hy...	OMIM:606721
Sarcoidosis	Hemolytic anemia, Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Eosi...	ORPHA:797
Chromosome 2P16.1-P15 Deletion Syndrome	Short stature, Postnatal growth retardation, Intrauterine growth retardation, Micropenis, Hydrone...	OMIM:612513
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid...	OMIM:140350
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria...	OMIM:619573
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial...	ORPHA:904
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Reticulocyt...	ORPHA:14
Glycosylphosphatidylinositol Biosynthesis Defect 1	Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension	OMIM:610293
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr...	OMIM:617052
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Atro...	OMIM:614700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Zttk Syndrome	Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growth delay, Intrauterine ...	OMIM:617140
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,...	ORPHA:391641
Mccune-Albright Syndrome	Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert...	ORPHA:562
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc...	OMIM:608776
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Acute myeloid leukemia, Pancyto...	OMIM:260400
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Recurrent ...	OMIM:613489
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Glossitis, Dextrocardia, Megaloblastic anemia...	OMIM:277380
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Hyperkalemia, Micro...	OMIM:617053
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased serum lactate, Conjugated hyperbilirubinemia, Hyperkalemia, Metabolic acidosis, Hypoalb...	OMIM:618528
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Hydronephrosis	OMIM:620327
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Cardiogenic shock, Increased cir...	ORPHA:100075
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Short stature, Horseshoe kidney, Growth delay, Hypophosphatemic rickets	OMIM:163200
Pure Autonomic Failure	Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating catecholamine ...	ORPHA:441
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Small for gestational age, Hypocalcemia, Lethargy, Failure to thrive, Patent forame...	OMIM:607143
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Intestinal bleeding, Interstitial cardiac fib...	ORPHA:90291
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, H...	ORPHA:79239
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Hydronephrosis	OMIM:619179
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Growth delay, Short stature, Hydronephrosis	ORPHA:457193
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg...	ORPHA:26790
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl...	OMIM:256300
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Biliary tr...	OMIM:175200
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula...	OMIM:615238
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+...	OMIM:606367
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
3C Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Postnatal growth retardation, Hydronephrosis	ORPHA:7
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Shortened QT interval, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis	ORPHA:99880
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S...	ORPHA:289176
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Sneddon Syndrome	Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Atrophic scars, Ischemic stroke, Lympho...	OMIM:182410
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Short stature, Vesicoureteral reflux, Hydronephrosis, Renal du...	ORPHA:96169
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Incre...	OMIM:222470
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type I diabetes...	ORPHA:1133
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Abnormality of the gastrointestinal tract, Generaliz...	ORPHA:50918
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr...	ORPHA:71212
Baller-Gerold Syndrome	Short stature, Abnormality of the ureter, Abnormal localization of kidney, Growth delay, Vesicour...	ORPHA:1225
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of...	ORPHA:1666
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi...	ORPHA:615
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent...	ORPHA:263455
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he...	OMIM:617253
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Glucose intolerance, Atrial septal defect...	OMIM:194050
Alkaptonuria	Coronary artery calcification, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glo...	OMIM:203500
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys...	ORPHA:2357
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites	ORPHA:2414
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Short stature, Hydronephrosis	ORPHA:35173
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Insulin resistance, Di...	OMIM:616541
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Delayed puberty, Nephropathy, ...	ORPHA:575
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Renal cyst, Vesicoureteral ...	ORPHA:261494
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis...	ORPHA:342
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk...	ORPHA:268
Noonan Syndrome 4	Ureteral duplication, Short stature, Hydronephrosis	OMIM:610733
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Diaphyseal sclerosis, Hyperpho...	ORPHA:94089
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Hypercalcemia, Weight loss, Hematochezia, Multiple lipomas, Lipoma, ...	ORPHA:913
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, N...	OMIM:209900
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Atrial septal def...	ORPHA:124
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia	OMIM:612462
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:614582
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Dysphagi...	OMIM:300322
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Friedreich Ataxia	Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Hype...	OMIM:229300
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Growth delay, Moderate albuminuria, Hydronephrosis, Proportionate short stature	OMIM:619269
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration, Dysp...	OMIM:313200
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ...	ORPHA:1304
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas...	ORPHA:171
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic...	ORPHA:71273
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Short stature, Bidirectional ventricular ectopy, Hypokale...	OMIM:170390
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Growth delay, Short stature, Dysuria	ORPHA:101000
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros...	ORPHA:449432
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno...	OMIM:302960
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Growth delay, Short stature, Glandular hypospadias	ORPHA:1358
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Proteinuria, Hypergon...	OMIM:212065
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He...	OMIM:612541
Trisomy 1Q	Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hyposp...	OMIM:229850
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Hydronephrosis	ORPHA:568
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Pericard...	ORPHA:93552
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Renal cyst, Abnormal...	ORPHA:488618
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Hydronephrosis, Short stature	ORPHA:912
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ...	OMIM:617941
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence	OMIM:268800
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Hypertrophic cardiomyopathy	OMIM:618810
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Yellow Fever	Acute pancreatitis, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase concent...	ORPHA:99829
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secretion, Cardiome...	ORPHA:79330
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Abnormality of the pancre...	ORPHA:3376
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat...	OMIM:617478
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating creatine kinase concentratio...	OMIM:608779
Microphthalmia, Syndromic 9	Renal malrotation, Severe short stature, Short stature, Renal hypoplasia, Horseshoe kidney, Intra...	OMIM:601186
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Postnatal growth retardation, Heart murmur, Multiple bladder diverticula, Intrauteri...	ORPHA:2728
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ...	OMIM:619424
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicourete...	OMIM:235510
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Immunodeficiency With Hyper-Igm, Type 4	Recurrent infection of the gastrointestinal tract, Autoimmune hemolytic anemia, Absence of lymph ...	OMIM:608184
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Postnata...	ORPHA:96179
Alveolar Echinococcosis	Liver abscess, Abnormal pericardium morphology, Portal hypertension, Cholangitis, Pancreatic cyst...	ORPHA:284
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmo...	OMIM:619351
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Heart block, Neutropenia, Cardiomyopathy, Abnormal cardiac septum ...	ORPHA:175
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm...	OMIM:613987
Osteopetrosis With Renal Tubular Acidosis	Short stature, Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal rena...	ORPHA:2785
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Malabsorption, Splenome...	ORPHA:77297
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Obesity	OMIM:603233
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp...	OMIM:239000
Tularemia	Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical l...	ORPHA:3392
Lassa Fever	Shock, Oliguria	ORPHA:99824
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Pelvis-Shoulder Dysplasia	Neonatal short-trunk short stature, Short stature, Hydronephrosis, Mesomelic/rhizomelic limb shor...	ORPHA:2839
Autoimmune Lymphoproliferative Syndrome	Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg...	ORPHA:3261
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Le...	ORPHA:83313
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor...	OMIM:614527
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula...	OMIM:613507
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Congenital Sialidosis Type 2	Abnormal EKG, Inguinal hernia, Ataxia, Dysmetria, Telangiectasia, Abnormal heart morphology, Hepa...	ORPHA:93400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis...	OMIM:300755
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Short stature, Vesicoureteral reflux, Intrauterine growth...	OMIM:300707
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D...	ORPHA:280365
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary...	ORPHA:100093
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo...	ORPHA:456312
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy...	ORPHA:330015
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis	ORPHA:254528
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Abnormality of...	ORPHA:33226
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intraut...	OMIM:618460
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, High pa...	OMIM:251290
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Thromboc...	OMIM:222700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cat Eye Syndrome	Short stature, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	OMIM:115470
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Mosaic Trisomy 8	Vesicoureteral reflux, Short stature, Hydronephrosis	ORPHA:96061
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev...	OMIM:615486
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card...	OMIM:266500
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Hematemesis, Shortened QT interval, Osteolysis, Reduced bone mineral density, Mele...	ORPHA:652
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcytic anemia, Cryptorchidism, High palate, HbH hemoglobin	ORPHA:98791
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne...	ORPHA:96149
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Dysphagia, Hepatosplenomegaly, Hepati...	OMIM:608013
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Esophageal stenosis, Abnormality of ne...	ORPHA:1775
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ataxia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Nephroblastoma	Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy	ORPHA:654
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Glandu...	ORPHA:2473
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95512
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei...	OMIM:617099
Genitopatellar Syndrome	Multicystic kidney dysplasia, Short stature, Hydronephrosis	ORPHA:85201
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Tarp Syndrome	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	OMIM:311900
Poems Syndrome	Diabetes mellitus, Pericardial effusion, Hypothyroidism, Abnormality of the endocrine system, Pri...	ORPHA:2905
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Micropenis, Hydronephrosis	OMIM:617798
Familial Isolated Hypoparathyroidism	Arrhythmia, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric...	ORPHA:167
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm...	ORPHA:330001
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Myocardi...	ORPHA:139402
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Conjugated hyper...	OMIM:208500
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ...	OMIM:251110
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H...	OMIM:251900
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:308552
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Lymphopenia	OMIM:605309
Familial Melanoma	Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach	ORPHA:618
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration...	OMIM:214100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ...	OMIM:614080
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Pulmonary carcinoid tu...	ORPHA:363618
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn...	ORPHA:273
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Intrauterine growth retardation, Short stature, Hydronephrosis	ORPHA:250989
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Gracile Bone Dysplasia	Asplenia, Decreased skull ossification, Hypocalcemia, Hypoplastic spleen, Failure to thrive	OMIM:602361
Alpha-N-Acetylgalactosaminidase Deficiency	Gastroesophageal reflux, Oligosacchariduria, Cardiomegaly	ORPHA:3137
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Microcytic anemia, Abnormality of the menstrual cycle,...	ORPHA:90308
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopet...	OMIM:618476
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Pancytopenia, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal hypert...	OMIM:613658
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased serum testosterone conc...	OMIM:201100
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the...	ORPHA:314473
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, High palate, Atrial septal defect, Intrahepatic biliar...	OMIM:614866
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormal hemoglobin...	ORPHA:847
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Dextrocardia, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve m...	ORPHA:1759
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Arrhythmia, Short stature, Hypotension	ORPHA:2135
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recurrent tonsilliti...	ORPHA:2686
Feingold Syndrome	Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia	ORPHA:1305
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Hydronephrosis	OMIM:616449
Carpenter Syndrome 1	Hydroureter, Short stature, Hydronephrosis	OMIM:201000
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, G...	ORPHA:33276
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Papa Syndrome	Type I diabetes mellitus, Proteinuria, Crohn's disease, Lymphadenopathy	ORPHA:69126
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Orch...	ORPHA:32960
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Lymphadenopathy, ...	ORPHA:39812
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J...	OMIM:214500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrh...	OMIM:616263
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Lymphopenia, T lymphocytopenia, B lymphocytopenia, Failure to thrive	ORPHA:277
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Atrophic gastritis, Pe...	OMIM:615846
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,...	ORPHA:3097
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Increased bone mineral density, Obesity, Reduced bone mineral ...	ORPHA:79443
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Intrauterine growth...	ORPHA:99776
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Elevated circulating C-reactive pro...	ORPHA:97214
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Short stature, Distal urethral duplication, Ectopic kidney, Renal h...	OMIM:146510
Musculocontractural Ehlers-Danlos Syndrome	Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney	ORPHA:2953
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Postnatal growth retardation, Growth delay, Micropenis, Hydronephrosis	OMIM:301040
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormality ...	ORPHA:2035
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased glucagon level,...	ORPHA:276152
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell m...	ORPHA:760
Neuhauser Syndrome	High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Bifid uvula	OMIM:249310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Hypoalbuminemia, Gastroes...	OMIM:270400
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating...	ORPHA:314478
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol...	ORPHA:261250
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Intrauterine growth retarda...	ORPHA:314585
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Aortic valve stenosis,...	OMIM:230800
Thakker-Donnai Syndrome	Intrauterine growth retardation, Hydronephrosis	ORPHA:1780
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone mineral density...	ORPHA:667
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Short stature, Vesicoureteral reflux, Intrauterine growth ret...	OMIM:610443
2P15P16.1 Microdeletion Syndrome	Growth delay, Intrauterine growth retardation, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Hennekam Syndrome	Ectopic kidney, Pericardial effusion, Splenomegaly, Malabsorption, Pyloric stenosis, Pulmonary ly...	ORPHA:2136
Grfoma	Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ...	ORPHA:97261
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Craniofacioskeletal Syndrome	Hypospadias, Short stature, Hypocalcemia, Intrauterine growth retardation, Hydronephrosis	OMIM:300712
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Mitral valve prolapse	ORPHA:1563
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis	OMIM:104350
Teebi-Shaltout Syndrome	Ureteral stenosis, Short stature, Hydronephrosis, Horseshoe kidney	OMIM:272950
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97278
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Increased bone mineral density, Obesity, Hyperphosphatemia, Hy...	ORPHA:79444
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly...	OMIM:256040
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Esophageal varix, ...	OMIM:616028
Argininemia	Postnatal growth retardation, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria	OMIM:207800
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph...	ORPHA:1606
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Hyperphosphatasia-Intellectual Disability Syndrome	Growth delay, Hydronephrosis	ORPHA:247262
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Hypercalcemia, Palpitations, Hypertensive crisis, Hypertensi...	ORPHA:653
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia	OMIM:620365
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, ...	ORPHA:2308
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ...	ORPHA:1318
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Diabetes mellitus, Ataxia, Elevated circulating a...	OMIM:208900
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short stature, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis	OMIM:618454
Gonadoblastoma	Gonadal calcification, Dysgerminoma, Increased serum testosterone level, Gonadal dysgenesis with ...	ORPHA:206484
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Lymphadenopathy, Abno...	ORPHA:1332
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy	ORPHA:2221
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Dy...	OMIM:252930
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy	ORPHA:343
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ...	OMIM:605039
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Persistence of hemoglobin F, Increased size of nasophar...	OMIM:619769
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v...	ORPHA:70591
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Short stature, Renal dysplasia	OMIM:300968
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Hypothyroidism	ORPHA:349
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Takenouchi-Kosaki Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney	OMIM:218350
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Baraitser-Winter Cerebrofrontofacial Syndrome	Growth delay, Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Erdheim-Chester Disease	Hydronephrosis, Renal insufficiency, Dysuria	ORPHA:35687
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect...	ORPHA:100079
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Hypothyro...	ORPHA:58
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia...	ORPHA:508542
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypocalcemia,...	ORPHA:163979
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Campomelic Dysplasia	Short stature, Hydronephrosis	ORPHA:140
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Hypertrophic cardiomyopathy	OMIM:619053
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal left ventricular function, Premature ...	ORPHA:391665
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice...	ORPHA:348
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, High palate, Hypothyroidism	ORPHA:2479
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ...	OMIM:618165
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
8P Inverted Duplication/Deletion Syndrome	Micropenis, Abnormality of the urinary system, Hydronephrosis	ORPHA:96092
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia, La...	OMIM:147791
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retardation, Unilater...	ORPHA:90324
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react...	ORPHA:900
Sotos Syndrome	Hip contracture, Inguinal hernia, Ventricular septal defect, Hypercalcemia, Craniosynostosis, Ank...	ORPHA:821
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Lymphopenia	OMIM:617575
Trisomy 8P	Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis, Malrotation of small bow...	ORPHA:264450
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Raine Syndrome	Hydroureter, Short stature, Hydronephrosis, Hypophosphatemia	OMIM:259775
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Hematuria, Neutrop...	ORPHA:520
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Renal cyst, Birth length less than 3rd percentile, Intrau...	ORPHA:464311
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm...	ORPHA:90695
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intesti...	OMIM:263520
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Intrauterine growth retardation, Abnormal bladder morphology, Hydronephrosis	ORPHA:453499
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Atrial sep...	OMIM:243800
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Pancytopenia, Transient ischemic attack, Small for gestational age, Th...	OMIM:242900
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno...	OMIM:308050
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Cardio...	ORPHA:98907
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Increased fecal coproporphyrin...	OMIM:263700
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellit...	ORPHA:261265
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu...	OMIM:619381
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ...	ORPHA:779
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive ...	OMIM:612852
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Organic aciduria, Hyperammonemia	OMIM:253260
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Primary adrenal insuffi...	OMIM:261515
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Stromme Syndrome	Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat...	ORPHA:95699
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Transient ischemic attack, Small for gestational age, Congestive heart failure...	ORPHA:1830
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox...	OMIM:201450
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten...	OMIM:192350
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Severe short stature, Hydronephrosis, Infancy onset short-tru...	ORPHA:444072
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia, Nodular goit...	ORPHA:142
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased T cell count, Inflammation of t...	ORPHA:98813
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala...	OMIM:617022
Atelosteogenesis Type I	Malrotation of colon, Multiple renal cysts, Abnormal pancreatic duct morphology, Cleft palate	ORPHA:1190
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia	OMIM:160900
Recessive Mitochondrial Ataxia Syndrome	Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Limb dysmetria	ORPHA:94125
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p...	OMIM:619488
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous genitalia, female, Lobulated...	OMIM:249000
Cystic Fibrosis	Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Biliary ci...	OMIM:219700
3Mc Syndrome 1	Growth delay, Postnatal growth retardation, Hydronephrosis	OMIM:257920
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor...	ORPHA:2322
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,...	ORPHA:333
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinop...	ORPHA:443811
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, T...	ORPHA:391487
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Short stature, Unilateral renal agenesis, Renal cyst, Intrauterine growth retardatio...	ORPHA:464306
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
Cousin Syndrome	Disproportionate short stature, Rhizomelia, Hydronephrosis	OMIM:260660
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Grange Syndrome	Coronary artery stenosis, Renal artery stenosis, Renovascular hypertension, Carotid artery stenosis	OMIM:602531
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Au-Kline Syndrome	Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis	OMIM:616580
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne...	ORPHA:512
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne...	OMIM:619774
Opsismodysplasia	Renal phosphate wasting, Rhizomelia, Disproportionate short-limb short stature, Hypophosphatemia	OMIM:258480
Trisomy 18	Short stature, Abnormality of the upper urinary tract, Growth delay, Intrauterine growth retardat...	ORPHA:3380
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren...	OMIM:260920
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val...	ORPHA:363705
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Congenital pyloric atresia	ORPHA:2617
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Eec Syndrome	Hypospadias, Short stature, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hy...	ORPHA:1896
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal...	OMIM:269860
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis	ORPHA:2323
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru...	OMIM:233450
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi...	OMIM:617237
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Splenomegal...	OMIM:613471
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Diabetes insipidus, Prolonged neonatal...	ORPHA:423479
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defe...	OMIM:609069
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testo...	ORPHA:247768
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Fetal ascites, Abnormal stomach morphology,...	ORPHA:141127
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Dilated cardiomyop...	ORPHA:3260
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulce...	ORPHA:99867
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic...	ORPHA:538
Chops Syndrome	Ventricular septal defect, Splenomegaly, Cryptorchidism, High, narrow palate, Anomalous pulmonary...	OMIM:616368
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:2092
Dubowitz Syndrome	Hypospadias, Short stature, Postnatal growth retardation, Intrauterine growth retardation, Hydron...	ORPHA:235
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
7Q11.23 Microduplication Syndrome	Short stature, Hypospadias, Unilateral renal agenesis, Growth delay, Enuresis, Hydronephrosis	ORPHA:96121
Tarp Syndrome	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	ORPHA:2886
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Glucos...	ORPHA:881
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega...	ORPHA:96191
Cardiofaciocutaneous Syndrome 1	Short stature, Hydronephrosis	OMIM:115150
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Gast...	OMIM:620233
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Adenoiditis, Recurr...	ORPHA:581
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Nijmegen Breakage Syndrome	Intrauterine growth retardation, Recurrent urinary tract infections, Short stature, Hydronephrosis	OMIM:251260
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastroesophageal reflux, Vesicouret...	OMIM:122470
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper...	ORPHA:469
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis	ORPHA:2750
Coccidioidomycosis	Pericarditis, Renal insufficiency, Abnormal sperm morphology, Eosinophilia, Abnormality of the ki...	ORPHA:228123
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Cardiofaciocutaneous Syndrome	Short stature, Hydronephrosis	ORPHA:1340
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum...	OMIM:226730
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Tel...	OMIM:615934
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Inguinal hernia, Failure to thrive, Ventricular septal defect, Abnor...	ORPHA:567
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Opitz Gbbb Syndrome	Hypospadias, Short stature, Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis	ORPHA:2745
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetany, Enamel ...	OMIM:103580
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla...	ORPHA:280633
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Otopalatodigital Syndrome Type 2	Hydronephrosis, Hypospadias, Ureteral obstruction	ORPHA:90652
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate,...	OMIM:616975
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Renal hypoplasi...	ORPHA:3138
Robinow Syndrome, Autosomal Recessive 1	Short stature, Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-d...	ORPHA:2255
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Postnatal growth retardation, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus...	OMIM:613177
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst, Polycystic ovari...	ORPHA:137675
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Hypocalcemia, Umbilical hernia, Tetralogy of Fallot	OMIM:192430
White-Kernohan Syndrome	Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Leukocytosis, Renal hypoplasia, Hypoplasia of the ovar...	OMIM:619321
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal...	ORPHA:449563
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Meckel diverticulum, Ventricular septal defect, Eosinoph...	OMIM:274000
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan...	ORPHA:98908
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Malabsorption, Or...	ORPHA:117
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Micropenis, Hydronephr...	OMIM:269150
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian t...	ORPHA:722
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili...	OMIM:613610
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Growth delay, Neurogenic bladder	OMIM:616973
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Vascular Ehlers-Danlos Syndrome	Short stature, Hypospadias, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokalemia	ORPHA:286
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, High, narrow palate, Hepatoblastoma, Atrial septal def...	ORPHA:373
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic hypoplasia...	OMIM:600001
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Macroglossia, Cardiomegaly	OMIM:618143
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Abnormality...	ORPHA:556
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Adrenal ...	ORPHA:139411
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Intestinal malrotation	OMIM:601163
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Schinzel-Giedion Syndrome	Myeloid leukemia, Hypospadias, Streak ovary, Nephroblastoma, Aganglionic megacolon, Abnormality o...	ORPHA:798
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c...	OMIM:193300
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Short stature, Dilatation of the renal pelvis, Stage 5 chronic kidne...	ORPHA:2044
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pylo...	OMIM:618419
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ...	OMIM:607625
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal ...	ORPHA:818
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S...	OMIM:266920
X-Linked Hypophosphatemia	Disproportionate short stature, Renal phosphate wasting, Growth delay, Hypocalciuria, Hypophospha...	ORPHA:89936
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff...	OMIM:260370
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Thrombocytopenia	OMIM:230900
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Apert Syndrome	Rhizomelic arm shortening, Hydronephrosis	OMIM:101200
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Ataxia, Abscess, Eosinophilia, Vasculitis in the skin, Neutr...	OMIM:615816
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased resp...	ORPHA:95494
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction, Growth delay	ORPHA:1826
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Grade III v...	OMIM:619522
Vici Syndrome	Lymphopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Congestive he...	OMIM:242840
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytope...	ORPHA:51
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology, Urinary retention...	ORPHA:97297
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Cardiomegaly	OMIM:618798
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ...	ORPHA:90790
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ...	OMIM:129900
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly	OMIM:105210
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:365
Carney Complex	Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Thyroid carcinoma, Papillary thyr...	ORPHA:1359
Hamamy Syndrome	Osteopenia, Inguinal hernia, Prolonged QRS complex, Craniosynostosis, Microcytic anemia, Complete...	OMIM:611174
Mesomelia-Synostoses Syndrome	Mesomelic short stature, Hydronephrosis	OMIM:600383
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Lymphadenopathy, Oligosacchariduria	ORPHA:2483
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p...	OMIM:305400
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Glomerulonephritis, ...	ORPHA:289390
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr...	OMIM:619127
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules	OMIM:139090
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Flexion contracture, Knee flexion contracture, Hypocalcemia, Hemolytic anemia, Portal hypertensio...	OMIM:619503
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Postnatal growth retardation, Fetal pyelectasis,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Postnatal growth retardation, Fetal pyelectasis,...	ORPHA:363958
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Autosomal Recessive Robinow Syndrome	Disproportionate short-limb short stature, Hypoplasia of penis, Multicystic kidney dysplasia, Hyd...	ORPHA:1507
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro...	OMIM:153670
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Hyperlipidemia, Hyperkalemia, Enuresis, Delayed puberty	ORPHA:293987
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Rett Syndrome	Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Xerostomia, Stage 5 chronic kidney d...	ORPHA:90340
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo...	OMIM:620294
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pancytopenia, Splenomegaly, Aortic valve calcification, Abnormality o...	ORPHA:2072
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Growth delay, Hydronephrosis	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Growth delay, Hydronephrosis	ORPHA:352665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co...	OMIM:615287
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, High palate, Cardiomegaly	ORPHA:2463
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Short stature, Renal dysplasia	OMIM:300990
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Charge Syndrome	Short stature, Postnatal growth retardation, Horseshoe kidney, Delayed puberty, Vesicoureteral re...	ORPHA:138
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Hepatomegaly	OMIM:601979
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Ventricular ...	ORPHA:2729
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hepatomegaly, Anemia, Hypocalcemic seizures	OMIM:612301
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Robinow Syndrome	Multicystic kidney dysplasia, Short stature, Webbed penis, Micropenis, Hydronephrosis	ORPHA:97360
Muir-Torre Syndrome	Endometrial carcinoma, Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm...	ORPHA:587
Pancreatic Agenesis 2	Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in...	OMIM:615935
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Stomach cancer,...	ORPHA:331235
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Short stature, Hydronephrosis	OMIM:610682
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Icf Syndrome	Anemia, Umbilical hernia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Melnick-Needles Syndrome	Ureteral stenosis, Hydronephrosis	OMIM:309350
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Short stature, Nephrolithiasis, Growth delay, Ab...	ORPHA:353281
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr...	ORPHA:2636
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Micropenis, Hydronephrosis	ORPHA:83617
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decre...	ORPHA:93325
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Leukopenia, Lethargy, Lymphopenia, Thrombocytopenia	ORPHA:319218
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Jaundice, Leu...	ORPHA:2331
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart morphology, Tong...	OMIM:311200
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis	OMIM:280000
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon	ORPHA:163746
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Aplasia of the epiglottis, Atriov...	OMIM:617088
Esophageal Atresia	Barrett esophagus, Abnormal external genitalia, Ventricular septal defect, Maternal diabetes, Ren...	ORPHA:1199
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Atrial septal defect, Intestinal lymphan...	OMIM:616843
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth...	OMIM:607944
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal...	ORPHA:709
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Hydronephrosis	OMIM:601776
Hepatoerythropoietic Porphyria	Hemolytic anemia, Splenomegaly, Abnormal circulating porphyrin concentration, Red-brown urine, Re...	ORPHA:95159
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Decreased serum insulin-like growth factor 1, Annular pancreas, High palate	OMIM:618162
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ambiguous genitalia, Ventricular septal defect	OMIM:615503
Kabuki Syndrome 1	Crossed fused renal ectopia, Short stature, Postnatal growth retardation, Micropenis, Growth dela...	OMIM:147920
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Mitral valve calcification, Calcium nephrolithiasis, Abnormal circulating calcium c...	ORPHA:60025
Whim Syndrome	Cellulitis, Tetralogy of Fallot, Abnormal neutrophil morphology, Limb ataxia, Neutropenia, Lympho...	ORPHA:51636
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Floating-Harbor Syndrome	Hypospadias, Short stature, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethra...	OMIM:136140
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Hypoam...	ORPHA:556955
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Arboleda-Tham Syndrome	Growth delay, Intrauterine growth retardation, Recurrent urinary tract infections, Hydronephrosis	OMIM:616268
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Intr...	ORPHA:3310
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Craniosynostosis, Thrombocytopen...	OMIM:620005
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Short stature, Decreased serum iron, Nephrolithiasis, Vesicoureteral reflux, Hydronephrosis	ORPHA:438213
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Short stature, Ectopic kidney, Postnatal growth retardation, Renal hypo...	OMIM:135900
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:506358
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Abnormality of the menstru...	ORPHA:3385
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, Atrial septal defect, L...	OMIM:245600
Cushing Disease	Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Myocardial infarction, Leuk...	ORPHA:96253
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Postna...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Postna...	ORPHA:353277
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Campomelic Dysplasia	Disproportionate short-limb short stature, Neonatal short-limb short stature, Hypospadias, Hydron...	OMIM:114290
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa...	OMIM:300967
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Ataxia, Scarring, Small for gestational age, Microcytic anemia, Leukocytosis, Impai...	ORPHA:99843
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Robinow Syndrome, Autosomal Dominant 1	Rhizomelia, Short stature, Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Doors Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl...	ORPHA:79500
Friedreich Ataxia 2	Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ...	OMIM:601992
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal renal morphology, Short stature, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tr...	ORPHA:2273
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Disproportionate short...	ORPHA:93271
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Anteriorly placed anus, High palate, Hypogonadism, Annular pancreas	OMIM:268400
Rubinstein-Taybi Syndrome 1	Hypospadias, Short stature, Postnatal growth retardation, Growth delay, Hydronephrosis	OMIM:180849
Knobloch Syndrome	Dextrocardia, Pyloric stenosis, Vesicoureteral reflux, Lymphangioma, Bifid ureter	ORPHA:1571
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Lymphadenopathy, Enl...	ORPHA:79078
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Alternating Hemiplegia Of Childhood	Ataxia, Cardiac conduction abnormality, Choreoathetosis, Cardiomyopathy, Abnormal T-wave, Arrhyth...	ORPHA:2131
Secondary Intestinal Lymphangiectasia	Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Intestinal...	ORPHA:90363
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Annular pancreas, Ankyloglossia, Cleft palate	ORPHA:488642
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, High, narrow palate, Pylori...	ORPHA:3472
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r...	ORPHA:95430
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Charge Syndrome	Omphalocele, Lymphopenia, Overriding aorta, Ventricular septal defect, Secundum atrial septal def...	OMIM:214800
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig...	ORPHA:3063
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Short stature, Wide penis,...	ORPHA:3455
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Hypospadias, Hydronephrosis	OMIM:236680
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cleft palate, Cardiomegaly	ORPHA:158687
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Rhizomelia, Postnatal growth retardation, Renal hypoplasia, Bi...	OMIM:261540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Adrenal calcification, Cardiomegaly, Pericardial effu...	ORPHA:51608
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Primary am...	OMIM:157640
Focal Dermal Hypoplasia	Ureteral duplication, Short stature, Horseshoe kidney, Bifid ureter, Hydronephrosis	OMIM:305600
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Hydronephrosis	OMIM:620330
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Aplasia of the swe...	OMIM:612132
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage...	OMIM:619472
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Malabsorption, Splenomegaly, Macroglossia, Macroorchidism	ORPHA:93
Otopalatodigital Syndrome, Type Ii	Postnatal growth retardation, Hypospadias, Hydronephrosis, Short stature	OMIM:304120
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Woodhouse-Sakati Syndrome	Osteopenia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Choreoathetosi...	ORPHA:3464
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Short stature, Renal dysplasia, Delayed puberty	ORPHA:480880
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Riddle Syndrome	Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna	ORPHA:420741
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormal T-wave, Hyperlipidemia, Diabetes mellitus	OMIM:241080
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Gastroin...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Chordee, Vesicour...	ORPHA:261537
Osteogenesis Imperfecta	Rhizomelia, Short stature, Hypercalciuria, Nephrolithiasis, Growth delay, Intrauterine growth ret...	ORPHA:666
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:181450
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Hypophosphaturia	ORPHA:73223
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Duplication of re...	ORPHA:261552
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	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	Late 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	Early 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 20.1 Data