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Gene: Agtr1a MGI:87964

Gene Summary

Name:

angiotensin II receptor, type 1a

Synonyms:

Agt1ar, Agtr1a, AT1, AT1a, Angtr-1a, 1810074K20Rik, Agtr-1a

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 platelet cell number	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	7.61×10^-05
abnormal spleen morphology	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
polycystic kidney	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal heart morphology	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal erythrocyte cell number	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	1.50×10^-08
enlarged spleen	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
enlarged heart	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal kidney morphology	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
increased spleen weight	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	3.24×10^-05
abnormal kidney morphology	Agtr1a^{em1(IMPC)Rbrc}	HOM	Early adult	0.00
abnormal hematocrit	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	2.99×10^-17
abnormal hemoglobin content	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	5.26×10^-24
abnormal red blood cell distribution width	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	1.29×10^-05
abnormal mean corpuscular hemoglobin	Agtr1a^{em1(IMPC)Rbrc}	HOM	Late adult	3.28×10^-05

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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.

Gross Pathology and Tissue Collection

Images

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

17 Images

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Human diseases caused by Agtr1a 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 Agtr1a (2 diseases)
Human diseases predicted to be associated with Agtr1a (1439 diseases)

The table below shows human diseases associated to Agtr1a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypertension, Essential		Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Renal Tubular Dysgenesis		Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria	OMIM:267430

The table below shows human diseases predicted to be associated to Agtr1a by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Renal insufficiency, Abnormality of circulating cortisol lev...	ORPHA:320
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Hypernatriuria, Abnormal circulating aldosterone, Decreased cir...	OMIM:300539
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Late-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis...	ORPHA:556037
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure...	ORPHA:97362
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote...	OMIM:177735
Early-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortis...	ORPHA:556030
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circu...	OMIM:203400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Systemic Capillary Leak Syndrome	Hypotension, Oliguria, Leukocytosis, Renal insufficiency, Arrhythmia, Abnormal renal tubule morph...	ORPHA:188
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Polyphagia, At...	ORPHA:369873
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Liddle Syndrome 1	Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost...	OMIM:177200
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal...	OMIM:613677
Orthostatic Hypotensive Disorder, Streeten Type	Syncope, Orthostatic hypotension	OMIM:143850
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, ...	OMIM:613845
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary...	ORPHA:231625
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Oliguria, Decreased circulating ca...	ORPHA:159
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul...	ORPHA:90793
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe...	ORPHA:90795
Colchicine Poisoning	Hypotension, Oliguria, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis,...	ORPHA:31824
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ...	ORPHA:231580
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster...	OMIM:218030
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Drug-Induced Lupus Erythematosus	Prolonged QTc interval, Elevated circulating creatine kinase concentration, Hematuria, Elevated c...	ORPHA:231111
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal...	OMIM:619902
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr...	OMIM:258900
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Central hypothyroidism, Leukocytosis, Lym...	ORPHA:514
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Cardiogenic Shock	Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ...	ORPHA:97292
Atrial Fibrillation, Familial, 15	Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde...	OMIM:615770
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Familial Hypoaldosteronism	Hypotension, Adrenal insufficiency, Increased circulating renin level, Hyponatremia, Decreased ci...	ORPHA:427
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Sepsis In Premature Infants	Hypotension, Oliguria, Leukocytosis, Splenomegaly, Reversible renal failure, Decreased body weigh...	ORPHA:90051
Familial Hyperaldosteronism Type I	Epistaxis, Polydipsia, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppr...	ORPHA:403
Ectopic Aldosterone-Producing Tumor	Epistaxis, Decreased circulating renin level, Hypokalemia, Renal cortical adenoma, Hypertension, ...	ORPHA:231632
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:100024
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische...	OMIM:274150
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia	OMIM:616276
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia	OMIM:211890
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg...	OMIM:620236
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Ethanolaminosis	Cardiomegaly	OMIM:227150
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Oliguria, Epistaxis, Congestive heart failure, Renal ins...	ORPHA:727
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Elevated circu...	OMIM:617872
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, G...	ORPHA:470
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Shock, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Elevate...	ORPHA:319213
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Congenital Isolated Acth Deficiency	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decrea...	ORPHA:199296
Polycystic Kidney Disease 7	Hypertension, Multiple renal cysts, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:620056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level	OMIM:620126
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis	OMIM:614844
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Abnormal circulating aldosterone, Increased circulating renin level, Hyponatre...	ORPHA:171876
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi...	OMIM:613237
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat...	OMIM:604273
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Hypotension, Elevated circulating hepatic transaminase concentration, ...	ORPHA:100080
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l...	OMIM:618126
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Leukocytosis, Hypocalcemia, Hyponatre...	ORPHA:544482
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ...	OMIM:145600
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia	OMIM:619048
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension, Reduced circulating...	OMIM:611489
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension	OMIM:607832
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Acute Adrenal Insufficiency	Hypotension, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficie...	ORPHA:95409
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Gitelman Syndrome	Hypotension, Polydipsia, Hypomagnesemia, Palpitations, Hypokalemia, Salt craving, Ventricular tac...	OMIM:263800
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he...	OMIM:212138
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Hypertension, Episodic hemolytic anemia, Delayed puberty, Membranoprolifera...	ORPHA:251004
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus	OMIM:222100
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte...	OMIM:614492
East Syndrome	Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Increased circulating ...	ORPHA:199343
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ...	ORPHA:220393
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Familial Hyperaldosteronism Type Iii	Epistaxis, Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Prolonged QT...	ORPHA:251274
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin...	OMIM:620300
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Hypertension, Increase...	OMIM:612780
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an...	OMIM:202010
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Budd-Chiari syndrome, Elevated circulating creatinine con...	ORPHA:49041
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con...	ORPHA:90791
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H...	OMIM:174000
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Oliguria, Congestive heart failure, Heart murmur	ORPHA:1054
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Congenital Disorder Of Glycosylation, Type Il	Ascites, Pericardial effusion, Splenomegaly, Atrial septal defect, Hepatomegaly, Polycystic kidne...	OMIM:608776
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h...	OMIM:601198
Perry Syndrome	Hypotension	ORPHA:178509
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypercalcemia, Nephrolithiasis, ...	OMIM:143880
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	ORPHA:90038
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Hematochezia, Hypotension, Elevated circulating hepatic transaminase c...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Hematochezia, Hypotension, Elevated circulating hepatic transaminase c...	ORPHA:100082
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Situs in...	OMIM:613095
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Nipah Virus Disease	Hypotension, Anorexia	ORPHA:99825
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic s...	ORPHA:97287
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Neutropenia,...	OMIM:617056
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia	OMIM:618235
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiote...	OMIM:264350
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca...	OMIM:616963
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:604765
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract...	OMIM:620152
Bartter Syndrome, Type 3	Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyperactive renin-angiotensin sys...	OMIM:607364
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia	ORPHA:419
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypop...	ORPHA:449285
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Hypergalactosemia	OMIM:230350
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Addison Disease	Adrenal calcification, Anorexia, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insufficienc...	ORPHA:85138
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Hypotension, Increased circulating prolactin concentration, Hypopituitarism, ...	ORPHA:91354
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Hydroxykynureninuria	Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, Motor stereotypy	ORPHA:79155
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Saccharopinuria	Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria...	OMIM:268700
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Elevated circulating creatini...	ORPHA:230
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Lassa Fever	Shock, Oliguria	ORPHA:99824
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, ...	ORPHA:84064
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Weight loss, Tubuloi...	ORPHA:85450
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:613668
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, ...	ORPHA:79312
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Hypotension, Elevated circulating creatinine concentration, Reduced left ven...	ORPHA:542323
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Recur...	OMIM:145001
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita...	ORPHA:480520
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts, Mitral valve prolapse	OMIM:173900
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Abnor...	ORPHA:85447
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Jaundice, Hemolytic anemia	ORPHA:33574
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	ORPHA:100075
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypotension, Abnormal pulse pressure, Sinus tac...	ORPHA:466650
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypertrophic cardiomyopathy, Adrenal insufficiency, Renal insufficiency, Hyperglyc...	OMIM:619386
Relapsing Fever	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased circul...	ORPHA:91547
Post-Traumatic Pituitary Deficiency	Hypotension, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased...	ORPHA:95619
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog...	OMIM:612561
Muscular Dystrophy, Cardiac Type	Carnosinuria, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:309930
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Recurrent urinary tract infections, H...	ORPHA:731
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Hyperprolinemia, Type Ii	Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid...	OMIM:239510
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome	OMIM:269920
Erythrocytosis, Familial, 2	Hypotension, Elevated circulating erythropoietin concentration, Failure to thrive, Increased hema...	OMIM:263400
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia	OMIM:614654
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal defect, Thrombocytopenia,...	ORPHA:101028
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt...	OMIM:618278
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive ...	OMIM:249270
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular...	OMIM:261740
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Palpitations, Elevated ur...	ORPHA:892
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Renal Tubular Dysgenesis	Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria	OMIM:267430
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia, Micropenis	OMIM:620501
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Graves disease, Sinus tachycardia, Polyd...	ORPHA:525731
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Hereditary Central Diabetes Insipidus	Diabetes insipidus, Polydipsia	ORPHA:30925
Renal Glucosuria	Polyphagia, Polydipsia	OMIM:233100
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Abnormal heart morphology, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intra...	OMIM:214110
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Failure to thrive,...	OMIM:230400
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:619072
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Babesiosis	Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti...	ORPHA:108
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Polydipsia, Hyperaldosteronism, Adrenal hyperpla...	ORPHA:369929
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblast...	OMIM:229100
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Hyperinsulinemia, Failure to thrive, Renal tubular dysfunction	OMIM:606528
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol con...	ORPHA:289548
Central Diabetes Insipidus	Hyponatremia, Diabetes insipidus, Polydipsia, Anorexia	ORPHA:178029
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi...	OMIM:214700
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol con...	ORPHA:168558
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Kleine-Levin Syndrome	Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ...	ORPHA:33543
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia, Abnormality of the kidney	ORPHA:284227
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans, Elevated tot...	ORPHA:79455
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion	OMIM:613724
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion	OMIM:619057
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Ochoa Syndrome	Polydipsia, Hypertension	ORPHA:2704
Infant Botulism	Hypotension, Hyponatremia, Dysphagia, Anorexia, Cardiac arrest, Hypertension	ORPHA:178478
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, C...	ORPHA:228308
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Polycythemia, Failure to thrive, Hyperbilirubin...	OMIM:606812
Mercury Poisoning	Hypotension, Hypokalemia, Anorexia, Tachycardia, Hypertension	ORPHA:330021
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Cholera	Hypovolemic shock, Acute kidney injury, Hypotension, Abnormal blood ion concentration, Hypocalcem...	ORPHA:173
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal heart morphology, Periportal fibrosis, Polycystic kidney dysplasia	OMIM:263210
Nephronophthisis 3	Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein...	OMIM:604387
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Orthostatic hypotension, Nocturia, Elevated circul...	OMIM:223360
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a...	OMIM:618495
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Hyperphosphatur...	OMIM:239200
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy...	ORPHA:31826
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos...	OMIM:613404
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Foll...	OMIM:603909
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Hypertension	ORPHA:2111
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Decreased liver function...	ORPHA:98850
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta...	OMIM:231680
Cockayne Syndrome Type 1	Male hypogonadism, Failure to thrive, Renal insufficiency, Proteinuria, Hepatomegaly, Increased b...	ORPHA:90321
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Alexander Disease Type I	Abnormal thalamic MRI signal intensity	ORPHA:363717
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Lymph...	ORPHA:457077
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Glycogen Storage Disease Iv	Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosple...	OMIM:232500
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ...	OMIM:603358
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros...	OMIM:201750
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Lymphadenop...	ORPHA:507
Acquired Central Diabetes Insipidus	Diabetes insipidus, Polydipsia	ORPHA:95626
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Yellow Fever	Acute kidney injury, Anuria, Pancreatic hyperplasia, Shock, Elevated circulating creatinine conce...	ORPHA:99829
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Lipid accumulation in hepatocytes, ...	OMIM:608836
Meningococcal Meningitis	Hypotension, Shock, Increased circulating procalcitonin concentration, Anorexia, Elevated circula...	ORPHA:33475
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Primary...	ORPHA:2905
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly	ORPHA:99931
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Increa...	ORPHA:94093
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Small for gestational age, Failure to thrive, Reduc...	OMIM:208085
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure...	ORPHA:89938
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Dysphagia, Increased circulating prolactin concentration	ORPHA:35708
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c...	OMIM:615415
Tubulinopathy-Associated Dysgyria	Abnormal thalamus morphology	ORPHA:467166
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Cardiomyopathy, Hepatic peripor...	ORPHA:26791
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr...	OMIM:613507
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Illum Syndrome	Bradycardia	OMIM:208155
Cystinosis	Type I diabetes mellitus, Polydipsia, Portal hypertension, Hypokalemia, Hypothyroidism, Hypophosp...	ORPHA:213
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia	ORPHA:147
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Hypotension, Diabetic ketoacidosis	ORPHA:70578
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Hepatic calcification, Hepatomeg...	ORPHA:157
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Dicarboxylic ac...	OMIM:212140
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatocellular carcinoma, Hepatosplenomegaly...	ORPHA:158057
Late-Onset Isolated Acth Deficiency	Hypotension, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Graves disease, Adrenocortic...	ORPHA:199299
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Dengue Fever	Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hypoproteinemia	ORPHA:99828
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Reticuloc...	OMIM:611590
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Increased circulating procalcitonin concentration, Addictive alcohol use, Ele...	ORPHA:36238
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiotensin system, Polydip...	OMIM:241200
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias	OMIM:250790
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Hepatomegaly, Atrial septal defect, Thrombocytopenia, An...	ORPHA:290
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Familial Glucocorticoid Deficiency	Precocious puberty, Hypotension, Decreased circulating dehydroepiandrosterone concentration, Impa...	ORPHA:361
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive	ORPHA:2278
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Hypotension, Acute kidney injury, Proteinuria, Nephrotic syn...	ORPHA:85445
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Legionnaires Disease	Hypotension, Hepatitis, Hyponatremia, Arrhythmia, Anorexia, Myocarditis, Jaundice, Pericarditis	ORPHA:549
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614870
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Saccharopinuria	Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys...	ORPHA:3124
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ...	ORPHA:398124
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar...	OMIM:614963
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart, Hydronephrosis, Hypoplasia of penis, Urethral valv...	ORPHA:261290
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, T-wave inversio...	ORPHA:263297
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ...	ORPHA:94059
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Femoral-Facial Syndrome	Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Cholestasis, Hepatosplenomegaly, Splenomegaly, Ventricular septal defect, Renal cyst...	OMIM:614866
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Polydipsia, Hyponatremia, Hypothyroidism, Anorexia, Myo...	ORPHA:3452
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231214
Orthostatic Hypotension 2	Orthostatic hypotension	OMIM:618182
Serotonin Syndrome	Hypotension, Hepatic failure, Tachycardia, Restlessness, Hypertension, Agitation	ORPHA:43116
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def...	OMIM:620210
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Livedoid Vasculopathy	Graves disease, Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Ischemic st...	ORPHA:542643
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Nephroblastoma, Hydr...	ORPHA:314588
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Tubulointerstitial fibrosis, Failure to thrive	OMIM:263000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Atrial septal defect, Increased size of nasopharyngeal adenoids, Persi...	OMIM:619769
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion	ORPHA:254881
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anemia, T lymp...	OMIM:620632
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:613090
Thomas Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Persistence of hemoglobin F, Exocrine pancreatic insuffici...	OMIM:260400
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Beta-Ketothiolase Deficiency	Hypotension, Hyperammonemia, Oral aversion, Hyperuricemia, Anorexia, Hypertension, Agitation	ORPHA:134
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno...	OMIM:267010
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami	OMIM:617542
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hypermanganesemia With Dystonia 1	Polycythemia, Increased total iron binding capacity, Hypermanganesemia, Hepatomegaly, Unconjugate...	OMIM:613280
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Down Syndrome	Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ...	ORPHA:870
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Hepatic failure, Hepatitis, Cardiomyopathy, Hyperammonemia, Myocard...	ORPHA:292
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Beckwith-Wiedemann Syndrome	Nephropathy, Hepatomegaly, Visceromegaly, Polycythemia, Hypertrophic cardiomyopathy, Adrenocortic...	ORPHA:116
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis...	OMIM:154230
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,...	OMIM:230800
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ...	OMIM:606003
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	ORPHA:100078
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts	ORPHA:3033
Bardet-Biedl Syndrome 17	Hypogonadism, Obesity, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyur...	OMIM:615994
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho...	ORPHA:3032
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormal heart morphology, Splenic cyst, Ovarian c...	ORPHA:400
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Renal hypoplasia, Ascites, Renal cyst, Polycystic kidney dysplasia, Hypospadias	OMIM:614091
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia	OMIM:619046
Oculoskeletodental Syndrome	Abnormal thalamus morphology	ORPHA:557003
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia...	OMIM:618775
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:602522
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati...	ORPHA:42
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia	OMIM:616812
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Renal cyst, Polycystic liver disease	OMIM:174050
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Stimmler Syndrome	Aminoaciduria, Type II diabetes mellitus	ORPHA:3199
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr...	OMIM:255120
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Hypotension, Elevated circulating hepatic transaminase concentration, ...	ORPHA:100079
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Tetralogy of Fallot, Cholestasis, Renal insufficienc...	OMIM:610205
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Diffuse Cutaneous Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Elevated total serum tryptase	ORPHA:79456
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Necrotizing Enterocolitis	Shock, Hypotension, Abnormal heart morphology, Bradycardia	ORPHA:391673
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Failure to thrive, Hypertrophic cardiomyopathy, Hyperphosphaturia, Ren...	ORPHA:436271
Alveolar Echinococcosis	Biliary cirrhosis, Abnormal pericardium morphology, Abnormal mesentery morphology, Portal hyperte...	ORPHA:284
Von Hippel-Lindau Syndrome	Polycythemia, Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hypertension, Paragan...	OMIM:193300
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat...	ORPHA:1414
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit...	ORPHA:309854
Camptodactyly-Taurinuria Syndrome	Aminoaciduria, Increased urinary taurine	ORPHA:1325
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome...	OMIM:219800
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardi...	OMIM:266500
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency...	OMIM:233450
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop...	ORPHA:231720
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Nephrogenic Diabetes Insipidus	Polydipsia, Nephrogenic diabetes insipidus, Anorexia, Hypernatremia, Hypovolemia	ORPHA:223
Nephronophthisis 11	Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid...	OMIM:613550
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Increased circulating lactate dehydrogenase concentrati...	ORPHA:90068
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Hypospadias, HbH hemoglobin	ORPHA:98791
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypertrophic cardiomyopathy...	OMIM:201475
Genitopalatocardiac Syndrome	Ventricular septal defect, Renal cyst, Transposition of the great arteries, Double outlet right v...	OMIM:231060
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:616719
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Splenomegaly, Hepatomegaly, Anemia, Nephrotic syndrome	ORPHA:575
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased...	ORPHA:91349
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal thalamus morphology	ORPHA:404440
Hemochromatosis, Type 1	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carc...	OMIM:235200
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia	OMIM:617397
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Prolidase Deficiency	Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Hyperimidodipeptiduria...	OMIM:170100
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph...	OMIM:616026
Scrub Typhus	Myocarditis, Hypotension	ORPHA:83317
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc...	OMIM:619774
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology	ORPHA:88619
Congenital Erythropoietic Porphyria	Red-brown urine, Purple urine, Leukopenia, Increased urinary porphobilinogen, Erythroid hyperplas...	ORPHA:79277
Felty Syndrome	Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ...	ORPHA:47612
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Ogden Syndrome	Torsade de pointes, Hyperbilirubinemia, Ventricular septal defect, Bicuspid aortic valve, Arrhyth...	OMIM:300855
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect	OMIM:613730
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect	OMIM:619980
Glycogen Storage Disease Vii	Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-ind...	OMIM:232800
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Dark urine, Hepatic steatosis, P...	ORPHA:79303
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Proximal tubulopathy, Failure to thrive, Polyuria, Hepatomegaly	OMIM:560000
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico...	OMIM:113650
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Hepatome...	ORPHA:57777
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Elevat...	OMIM:619351
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ...	ORPHA:1329
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
22Q11.2 Deletion Syndrome	Renal hypoplasia, Cholelithiasis, Abnormality of thrombocytes, Tetralogy of Fallot, Vesicouretera...	ORPHA:567
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom...	ORPHA:2260
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent urinary tract infections	OMIM:614699
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism, Obesity, Hypoalbuminemia	ORPHA:88643
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Failure to thrive, Hypertrophic cardiomyopathy, Hyperphosphaturia, Ren...	OMIM:220110
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa...	OMIM:613388
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Bardet-Biedl Syndrome 9	Polyphagia, Polydipsia	OMIM:615986
Immunodeficiency 10	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphocyt...	OMIM:612783
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy...	OMIM:123550
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Wilson Disease	Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto...	ORPHA:905
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Sialidosis Type 2	Nephropathy, Hepatomegaly, Splenomegaly, Ascites	ORPHA:87876
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification...	OMIM:208000
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:618183
Lead Poisoning	Chronic kidney disease, Small for gestational age, Imbalanced hemoglobin synthesis, Decreased HDL...	ORPHA:330015
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Cardiomyopathy, ...	ORPHA:445038
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hyp...	ORPHA:20
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology	ORPHA:435638
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Prolonged neonatal jaundice, Ly...	OMIM:257200
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten...	ORPHA:124
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt...	ORPHA:158061
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hypotension, Hepatitis, Shock, Elevated circulating creatinine concentration, Hy...	ORPHA:36234
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus	ORPHA:1947
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Tachycardia, Methylmalonic ...	OMIM:277400
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Hepatomegaly	OMIM:300842
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea...	ORPHA:713
Poliomyelitis	Hypovolemic shock, Hypotension, Dysphagia, Anorexia, Hypertension, Agitation	ORPHA:2912
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Hypochromic microcytic anemia, Congenita...	ORPHA:77297
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Megacystis, Polyuria, Diabetes insipidus, Hypernatremia	OMIM:304800
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ...	ORPHA:2869
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria, Hypernatremia	OMIM:125800
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Hypoplasia of the bladder, Renal agen...	OMIM:249000
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion	ORPHA:79264
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Reduced circulating aromatic L-amino acid decarboxylase activity, Tongue thrusting	OMIM:608643
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Mody	Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m...	ORPHA:552
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Cach Syndrome	T2 hypointense thalamus	ORPHA:135
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Lysosomal Acid Lipase Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Decreased ...	ORPHA:275761
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypothyroidism, Dysphagia, Compulsive behaviors, Hypertension	ORPHA:93256
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Aortic regurgitation, Pulmonary hemorrhage, Proteinuria, Thrombocytopenia, Neutrop...	OMIM:603585
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, Hepatomegaly, My...	ORPHA:829
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei...	ORPHA:47159
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Cholestasis, Pancytopeni...	OMIM:614576
Joubert Syndrome 18	Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia, Ventricular septal defect	OMIM:614815
Crimean-Congo Hemorrhagic Fever	Anorexia, Jaundice, Tachycardia, Diffuse alveolar hemorrhage, Increased circulating lactate dehyd...	ORPHA:99827
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Hypertrophic cardiomy...	OMIM:617303
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Tubulointerstitial fibrosis, Hepatomegaly, Chronic neutropenia, Hypothyroidism, Hypertriglyceride...	ORPHA:79259
Leprechaunism	Nephrocalcinosis, Long penis, Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hype...	ORPHA:508
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating creatine...	ORPHA:308552
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ...	ORPHA:358
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver	ORPHA:140976
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure...	OMIM:222700
Cinca Syndrome	Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, A...	ORPHA:1451
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Splenomegaly, Ventricula...	OMIM:615630
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney, Ventricular septal...	OMIM:606232
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Abnormality of the spleen, Abnormal...	ORPHA:1834
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosine level, Lymp...	OMIM:613179
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula...	OMIM:617713
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity	ORPHA:444013
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Pde4D Haploinsufficiency Syndrome	Hypotension, Elevated circulating parathyroid hormone level	ORPHA:439822
Abcd Syndrome	Large for gestational age, Polycythemia	OMIM:600501
Meckel Syndrome 14	Hepatic fibrosis, Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegal...	OMIM:612541
Acute Radiation Syndrome	Telangiectasia, Hypotension	ORPHA:454831
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Prolactinoma	Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Adrenocorticotropin deficien...	ORPHA:2965
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal thalamus morphology	ORPHA:300570
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:600649
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure...	OMIM:227810
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Tetralogy of Fallot, Failure to thrive	OMIM:250620
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Vesicoureteral reflux, Renal insufficiency,...	ORPHA:2237
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Hellp Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:244242
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Vesicourete...	OMIM:615895
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Polydipsia, Elevated circulating parathyroid hormone level, Hypercalcemia, Par...	OMIM:617994
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormal thalamus morphology	ORPHA:2959
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunc...	ORPHA:99826
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutrop...	ORPHA:540
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration	ORPHA:1933
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Pseudo-Torch Syndrome 1	Renal insufficiency, Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly, Jaundice	OMIM:251290
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Vesicoureteral reflux, Renal hypoplasia/aplasia, Ventricular septal defect, ...	ORPHA:1166
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Mulibrey Nanism	Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Lipodystrophy, Congenital Generalized, Type 4	Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia	OMIM:613327
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tu...	ORPHA:2088
Leptospirosis	Hypotension, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Elevated serum transami...	ORPHA:509
Alexander Disease	Precocious puberty, Self-injurious behavior, Hypotension, Hypothyroidism, Dysphagia, Sudden cardi...	ORPHA:58
Autosomal Dominant Hypocalcemia	Hypotension, Hyperphosphatemia, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Arrhythmia	ORPHA:428
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:608013
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension, Atrial septal defect, Ventricular septal defect	OMIM:613870
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr...	ORPHA:18
Teratoma, Pineal	Polydipsia	OMIM:273120
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas...	ORPHA:3337
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic aciduria, Failure to thrive, Microcytic anemia, Elevated circulating...	OMIM:612073
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst, Atrial septal defect, Ventricular septal defect	OMIM:263630
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:617591
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo...	OMIM:115197
Q Fever	Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liver, Splenom...	ORPHA:781
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ho...	ORPHA:293978
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity	ORPHA:157846
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Abnormal heart morphology	OMIM:613390
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Cardiac rhabdomyoma,...	ORPHA:805
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity	ORPHA:254930
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test	OMIM:250900
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:2930
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria, Failure to thrive, Large for gestational age, Thrombocytopenia, Neutrop...	OMIM:614520
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Abnormal heart mo...	ORPHA:699
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leukemia, Pure red cell apl...	ORPHA:99867
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a...	ORPHA:56
Orofaciodigital Syndrome I	Hepatic fibrosis, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic...	OMIM:311200
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Annular pancreas, Vesicoureteral reflux, Patent foramen...	ORPHA:96149
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Ventricular septal defect, Atrial septal defect, Pancreatic fibrosis, Micropeni...	OMIM:263520
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Mitral valve p...	OMIM:602782
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Splenomegaly, Renal tubular acido...	ORPHA:264580
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertrophic cardiomyopathy, Ascites, R...	OMIM:276700
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Hepatic steatosis,...	OMIM:614922
Roberts Syndrome	Long penis, Polycystic kidney dysplasia, Thrombocytopenia	ORPHA:3103
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo...	ORPHA:2970
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology	ORPHA:79139
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume	ORPHA:370959
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Decreased serum testosterone concen...	ORPHA:465508
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclero...	OMIM:209010
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype...	ORPHA:91351
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Rabson-Mendenhall Syndrome	Precocious puberty, Polydipsia, Cardiomyopathy, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Renal agenesis, Ventricular septal defect, Hydronephrosis, Perimembranous ventric...	OMIM:301040
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormality of ...	ORPHA:3157
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph...	OMIM:603553
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Helix Syndrome	Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypoka...	OMIM:617671
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch...	ORPHA:99104
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Myocarditis,...	ORPHA:809
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Proximal tubulopathy, Renal cyst, Cirrhosis, Lymphangiectasis, Hepatomegaly	OMIM:602579
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Hyperkalemia, Abnormal circulating dehydroepiandrosterone concentration, In...	ORPHA:90794
Rhombencephalosynapsis	Fusion of the left and right thalami	ORPHA:59315
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity	ORPHA:485421
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly...	OMIM:232300
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e...	OMIM:300280
Dermotrichic Syndrome	Anemia, Aminoaciduria	ORPHA:99688
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto...	ORPHA:79330
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Splenomegaly, Hypocalce...	OMIM:617913
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Hennekam-Beemer Syndrome	Hypotension, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Hereditary Angioedema Type 1	Hypotension, Dysphagia	ORPHA:100050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Abnormal hemoglobin, Hydronephrosis, Abnormality of the kidne...	ORPHA:847
Proximal Spinal Muscular Atrophy	Atrial septal defect, Bradycardia	ORPHA:70
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, Fa...	ORPHA:289157
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Transketolase Deficiency	Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ...	ORPHA:488618
8P11.2 Deletion Syndrome	Splenomegaly, Mitral valve prolapse, Spherocytosis, Atrial septal defect, Hypoplasia of penis, He...	ORPHA:251066
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Proximal tubulopathy, Cardiomyopathy, Hepatic steatosis, Proteinuria, Renal cys...	OMIM:212065
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Lymphopenia, Vesicoureteral reflux, Patent foramen ovale, Hydronephrosis, Renal...	OMIM:618460
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c	OMIM:609812
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Abnormality of the urinary system, Hypertrophic cardiomyopathy, Abnormal ...	OMIM:230500
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Polydipsia,...	ORPHA:537
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronod...	OMIM:251880
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Elevated cir...	ORPHA:268
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic syndrome, Abno...	ORPHA:29073
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal ...	ORPHA:3375
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Wolfram Syndrome	Gastrointestinal hemorrhage, Male hypogonadism, Polydipsia, Cardiomyopathy, Hypogonadism, Delayed...	ORPHA:3463
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypopituitarism, Decr...	ORPHA:90695
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Hypoargininemia	ORPHA:23
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Mosaic Trisomy 9	Horseshoe kidney, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular septal...	ORPHA:99776
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Autoimmune hemolytic an...	OMIM:620565
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Hyperparathyroidism-Jaw Tumor Syndrome	Elevated circulating parathyroid hormone level, Polydipsia, Shortened QT interval, Abnormal parat...	ORPHA:99880
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Hepatomegaly, Myoglob...	ORPHA:79240
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, ...	OMIM:614921
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia	OMIM:617388
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Hydranencephaly	Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema	ORPHA:2177
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnormality of th...	ORPHA:411629
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia, Atrial septal defect	OMIM:616546
Interstitial Lung And Liver Disease	Aminoaciduria, Intraalveolar phospholipid accumulation, Failure to thrive, Hyperammonemia, Hepato...	OMIM:615486
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Shortened QT interval, Pol...	ORPHA:143
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi...	OMIM:616897
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Polydipsia, Hyperuricemia, Hypothyroidis...	ORPHA:93111
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Arrhythmia, Hypogonadism	OMIM:273400
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Glomerulopathy,...	ORPHA:2348
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Gaucher Disease, Type Ii	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:230900
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension...	ORPHA:90062
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Tetralogy of Fallo...	ORPHA:2044
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity	ORPHA:83597
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Ventricular septal defect	OMIM:102500
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252930
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell c...	OMIM:620376
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Congenital hepatic ...	ORPHA:1454
Budd-Chiari Syndrome	Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart mor...	OMIM:301111
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Aceruloplasminemia	Abnormal thalamic MRI signal intensity	ORPHA:48818
Leigh Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:506
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal cyst	OMIM:615583
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Penile freckling, Splenomegaly	OMIM:605309
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:603860
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia, Cerebral hemorrhage, Anemia, Fi...	OMIM:600376
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Axial Osteomalacia	Renal cyst, Polycystic liver disease	OMIM:109130
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Red urine, Hepatomegaly, Pink urine, Thrombocytopenia, Reduced eryt...	OMIM:263700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Self-injurious behavior, Elevated circulating hepatic transaminase concentr...	ORPHA:293987
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepatosplenomegal...	OMIM:615688
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm...	ORPHA:209905
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Argininosuccinic Aciduria	Aminoaciduria, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased circulating argininos...	OMIM:207900
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Severe Generalized Junctional Epidermolysis Bullosa	Duplicated collecting system, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, ...	ORPHA:79404
Joubert Syndrome 20	Renal cyst	OMIM:614970
Meckel Syndrome, Type 4	Renal cyst, Atrial septal defect, Bile duct proliferation, Ventricular septal defect	OMIM:611134
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Peritonitis, Neutr...	OMIM:249100
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Car...	ORPHA:391428
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Ventricular septal defect...	ORPHA:1655
Trichohepatoenteric Syndrome 1	Galactosuria, Hepatic fibrosis, Tetralogy of Fallot, Cholestasis, Splenomegaly, Ventricular septa...	OMIM:222470
Autoimmune Hepatitis	Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Glomerulonephritis, He...	ORPHA:2137
Waldenström Macroglobulinemia	Normocytic anemia, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Ab...	ORPHA:33226
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Mucopolysacchariduria, Splenomegaly	ORPHA:583
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ascites, Pancreatic lymphangiectasis, Splenomegaly, Ventricular septal defect, Hydronephrosis, Th...	OMIM:235255
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Tetralogy of Fallot, Muscular ventricular septal defect, Patent foramen ovale, ...	OMIM:210710
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity	ORPHA:845
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Meningioma	Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin...	ORPHA:2495
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure t...	OMIM:229600
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa...	OMIM:619991
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Acrorenal-Mandibular Syndrome	Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder	OMIM:200980
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Sialidosis Type 1	Aminoaciduria, Increased urinary O-linked sialopeptides, Splenomegaly, Urinary excretion of sialy...	ORPHA:812
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami	OMIM:619306
Erdheim-Chester Disease	Hypogonadotropic hypogonadism, Diabetes insipidus, Polydipsia, Congestive heart failure	ORPHA:35687
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Leukemia, Nephroblastoma, Renal cyst, Atrial septal defect, Micrope...	OMIM:257300
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc...	OMIM:230000
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Cholestasis, Hepatosplenomegaly, Stage 5...	OMIM:266920
Wilson Disease	Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Splenomegaly, Hyper...	OMIM:277900
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Malformation of the hepatic ductal plate, Hypospadias	OMIM:614175
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Leukocyte Adhesion Deficiency	Abnormality of neutrophil physiology, Polycythemia, Recurrent urinary tract infections, Leukocyto...	ORPHA:2968
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria, Hyperornithinemia	ORPHA:414
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating ...	ORPHA:91500
Thauvin-Robinet-Faivre Syndrome	Bifid ureter, Transient neutropenia, Mitral valve prolapse, Ventricular septal defect, Nephroblas...	OMIM:617107
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Splenomegaly, Renal ...	ORPHA:565612
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia	ORPHA:97297
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of the spleen, Crosse...	ORPHA:2538
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges...	ORPHA:137675
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall...	ORPHA:887
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excre...	OMIM:211900
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia	OMIM:236500
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Abno...	ORPHA:2075
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Nephrolithiasis, Polycystic ovaries...	OMIM:269700
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Elevated hepatic iron concentration, Thrombocytopenia, Aminoaciduria	OMIM:614946
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Failure to thrive, Elevated circulating creatine kinase concentra...	OMIM:619055
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
D-Bifunctional Protein Deficiency	Fetal ascites, Cholestasis, Hepatic steatosis, Splenomegaly, Renal cyst, Hepatomegaly, Bile duct ...	OMIM:261515
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary...	ORPHA:95494
Brucellosis	Liver abscess, Intrarenal abscess, Leukopenia, Hypersplenism, Leukocytosis, Splenomegaly, Abnorma...	ORPHA:1304
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Renal cyst, Hyperca...	OMIM:615398
Aicardi-Goutieres Syndrome 7	Hepatitis, Hypertrophic cardiomyopathy, Pancytopenia, Pericardial effusion, Splenomegaly, Hepatic...	OMIM:615846
Cornelia De Lange Syndrome 1	Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Ventricu...	OMIM:122470
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Long penis, Horseshoe kidney, Ventricular septal defect, Biliary tract abnormal...	OMIM:268300
Trisomy 13	Abnormality of the ureter, Ventricular septal defect, Hydronephrosis, Displacement of the urethra...	ORPHA:3378
Campomelia, Cumming Type	Multicystic kidney dysplasia, Multiple renal cysts, Hepatomegaly, Pancreatic cysts, Abnormality o...	ORPHA:1318
Grange Syndrome	Renal artery stenosis, Renovascular hypertension, Coronary artery stenosis, Carotid artery stenosis	OMIM:602531
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma	OMIM:135150
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis	ORPHA:2031
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph...	ORPHA:324410
Osteopetrosis, Autosomal Recessive 7	Anemia, Hepatomegaly, Splenomegaly	OMIM:612301
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Hypothyroidism, Tubulointerstitial fibrosis, Raynaud phenomenon, ...	OMIM:607944
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi...	OMIM:620511
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Failure to thrive, Ventricular septal defect, Hydronephrosis, Adrenal hypoplasia, ...	OMIM:214100
Abetalipoproteinemia	Hepatic fibrosis, Acanthocytosis, Reticulocytosis, Hepatic steatosis, Cardiomegaly, Hepatomegaly,...	ORPHA:14
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage	ORPHA:464321
Meckel Syndrome, Type 6	Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re...	OMIM:612284
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Membranous nephropa...	ORPHA:37042
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, J...	OMIM:607625
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,...	ORPHA:50918
Pagod Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the spleen, Situs inversus t...	ORPHA:991
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocyt...	ORPHA:3260
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Renal agenesis, Truncus arteriosus, Ventricular sept...	OMIM:134780
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content	OMIM:619259
Cranioectodermal Dysplasia 2	Portal fibrosis, Biliary cirrhosis, Polysplenia, Cholestasis, Renal insufficiency, Splenomegaly, ...	OMIM:613610
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Splenomegaly, Neutrophilia	OMIM:612852
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Ascites, Leukocytosis, Splenomegaly, Proteinuria, Peritonitis, Pan...	ORPHA:342
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr...	OMIM:220500
Joubert Syndrome 21	Renal cyst, Splenomegaly, Hyperechogenic kidneys	OMIM:615636
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Kleefstra Syndrome	Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defect, Hydro...	ORPHA:261494
Structural Heart Defects And Renal Anomalies Syndrome	Tetralogy of Fallot, Renal insufficiency, Ventricular septal defect, Truncus arteriosus, Renal cy...	OMIM:617478
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Periportal fibrosis, Ascites, Splenomegaly, Patent foramen ovale, Ventricular s...	OMIM:269860
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hepatomegaly, Jaundice, ...	ORPHA:912
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Multicystic kidney dysplasia	OMIM:618829
Gaucher Disease	Splenic infarction, Aortic valve calcification, Cholelithiasis, Hepatitis, Abnormal pericardium m...	ORPHA:355
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, A...	ORPHA:581
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro...	ORPHA:500095
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,...	ORPHA:54595
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Increased hepatic echogenicity, Microcytic anemia, Tetralogy of Fallot, Spl...	OMIM:619525
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst, Ventricular septal defect	ORPHA:166035
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial...	ORPHA:261197
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Renal insufficiency,...	ORPHA:534
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot,...	ORPHA:2473
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Cardiomegaly, Cardiomyopathy	OMIM:105210
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume	ORPHA:168577
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Situs inversus totalis, Congeni...	ORPHA:564
Mosaic Trisomy 1	Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, Hepatic agenesis...	ORPHA:1692
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Zttk Syndrome	Aortic regurgitation, Unilateral renal agenesis, Failure to thrive, Horseshoe kidney, Ventricular...	OMIM:617140
Homozygous Familial Hypercholesterolemia	Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Calcification of the ao...	ORPHA:391665
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary insufficiency, R...	OMIM:614437
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation	OMIM:603194
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:614162
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Failure to thrive, Pulmonary arterial hypertension, Hypercholesterolemi...	OMIM:606721
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Polysplenia, Cardiomyopathy, Splenomegaly, Nephroblast...	ORPHA:373
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Fryns Syndrome	Ectopic pancreatic tissue, Renal agenesis, Polysplenia, Ventricular septal defect, Hydronephrosis...	OMIM:229850
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly...	ORPHA:51
Lymphangioleiomyomatosis	Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sys...	ORPHA:538
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, ...	OMIM:306400
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
Holoprosencephaly 7	Panhypopituitarism, Fusion of the left and right thalami	OMIM:610828
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic regurgitation, Thoracic aorta calcification, Aortic arch aneurysm, ...	ORPHA:402075
Hepatoerythropoietic Porphyria	Red-brown urine, Purple urine, Erythroid hyperplasia, Splenomegaly, Red urine, Hemolytic anemia	ORPHA:95159
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Joubert Syndrome 14	Renal cyst, Ventricular septal defect	OMIM:614424
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enl...	OMIM:252500
Tuberous Sclerosis 1	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell...	OMIM:191100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Trisomy 1Q	Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis, Ventricular septal defect	ORPHA:261344
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly	OMIM:610717
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia...	ORPHA:2136
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia	ORPHA:226307
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept...	ORPHA:3384
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon	ORPHA:2720
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary system, Abnormal heart m...	ORPHA:369837
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting sys...	OMIM:270400
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell...	OMIM:613254
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion	OMIM:618929
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Bone marrow hypocell...	ORPHA:2308
Plague	Hypotension, Arrhythmia, Hematemesis, Anorexia, Tachycardia	ORPHA:707
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Hepatomegaly, Neopl...	ORPHA:77293
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology	ORPHA:314621
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Peritonitis, Abnormal myocardium morphology, Lymphadenopathy, Pericar...	ORPHA:32960
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly	OMIM:256040
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
1P36 Deletion Syndrome	Dilated cardiomyopathy, Annular pancreas, Abnormal heart valve morphology, Abnormality of the spl...	ORPHA:1606
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Low-molecular-weight...	OMIM:309000
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:667
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst, Ventricular septal defect	OMIM:250410
Double Outlet Left Ventricle	Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal ri...	ORPHA:3427
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Pancrea...	ORPHA:261265
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Clear cell renal cell carc...	ORPHA:90340
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal d...	OMIM:618454
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Ascites, Hepatosplenomegaly, Renal insu...	ORPHA:171
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Nephrolithiasis, Cirrhosis, ...	OMIM:608594
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Bardet-Biedl Syndrome 12	Hydronephrosis, Abdominal mass, Hydroureter, Cystic renal dysplasia	OMIM:615989
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Ventricular septal defect, Hydronephr...	OMIM:146510
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Tetralogy of Fallot, Renal insufficiency, Splenomegaly...	OMIM:188400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Hajdu-Cheney Syndrome	Aortic valve stenosis, Splenomegaly, Mitral stenosis, Ventricular septal defect, Multiple renal c...	ORPHA:955
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Ventricular septal defect, Hydrone...	ORPHA:464311
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Failure to thrive, Hypertrophic cardiomyopathy, Hypertyrosinemia, Lacticaciduria, ...	OMIM:124000
Fryns Syndrome	Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Hydronephrosis, Abnorma...	ORPHA:2059
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegaly, Pancreatitis	OMIM:620371
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Ascites, Nephroblastoma, Subvalvular aortic stenosis, Atrial septal...	ORPHA:1052
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr...	ORPHA:2973
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Abn...	ORPHA:289176
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Tetra...	OMIM:118450
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Adrenal calcification, Fail...	ORPHA:51608
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Mitral stenosis, Renal dysplasia	OMIM:617260
Sarcoidosis, Susceptibility To, 1	Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Hypercalciuria, Generalized lymphadenopa...	OMIM:181000
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V...	ORPHA:49
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Schinzel-Giedion Syndrome	Annular pancreas, Abnormal heart morphology, Abnormality of the ureter, Nephroblastoma, Nephrolit...	ORPHA:798
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:613471
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Joubert Syndrome 1	Nephropathy, Renal cyst, Hepatic fibrosis	OMIM:213300
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Ventricular septal defect, Hydrone...	ORPHA:464306
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor...	ORPHA:261318
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Polysplenia, Cardiomyopathy...	OMIM:312870
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Neoplasm of the heart, Hydroureter, Megacystis	ORPHA:2241
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve...	OMIM:142900
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Atrial septal defect	ORPHA:85201
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Renal ...	ORPHA:2092
Atelosteogenesis Type I	Multiple renal cysts, Abnormal pancreatic duct morphology	ORPHA:1190
Gapo Syndrome	Hepatomegaly, Tubulointerstitial fibrosis	OMIM:230740
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Renal c...	OMIM:616975
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Galactosuria, Organic aciduria, Abnormal cardiac septum morphology	ORPHA:85276
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Horseshoe kidney, Hepatomegaly, Splenomegaly, Atrioventricular canal defect	OMIM:617088
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Right ventricular fail...	ORPHA:99125
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Distal Deletion 15Q	Hypoplastic left heart, Multicystic kidney dysplasia, Double outlet right ventricle with doubly c...	ORPHA:1596
Williams Syndrome	Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Over...	ORPHA:904
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:261349
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Ventricular septal defect,...	ORPHA:97360
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Atrioventricular canal defect, Abn...	ORPHA:818
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal ...	ORPHA:1507
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa...	ORPHA:365
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy	ORPHA:2822
Kanzaki Disease	Aminoaciduria, Increased urinary O-linked sialopeptides, Lip telangiectasia, Telangiectasia of th...	OMIM:609242
Xeroderma Pigmentosum	Aminoaciduria, Failure to thrive, Hypogonadism, Telangiectasia, Conjunctival telangiectasia, Tela...	ORPHA:910
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Absent gallbladder, Abnormal mitral valve m...	ORPHA:3310
Trisomy 10P	Abnormal heart morphology, Multiple renal cysts, Absent gallbladder, Abnormality of the kidney	ORPHA:171929
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia	OMIM:616300
Cerebrocostomandibular Syndrome	Horseshoe kidney, Ventricular septal defect, Renal cyst, Atrial septal defect, Ectopic kidney	OMIM:117650
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology	ORPHA:68
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Bardet-Biedl Syndrome	Chronic kidney disease, Hepatic fibrosis, Cardiomyopathy, Horseshoe kidney, Abnormal heart morpho...	ORPHA:110
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries...	ORPHA:744
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Renal insufficiency, Proteinuria...	ORPHA:2750
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega...	ORPHA:3472
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal defect	OMIM:300373
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect	ORPHA:1393
Cutis Marmorata Telangiectatica Congenita	Ascites, Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Townes-Brocks Syndrome	Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Abnormal pulmo...	ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Abnormal heart morphology, Tet...	ORPHA:261537
Peters Plus Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia...	ORPHA:709
Mowat-Wilson Syndrome	Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Abnormal heart morphology, Tet...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Duplication of renal pelvis, A...	ORPHA:261552
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Renal...	OMIM:107480
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Congenital hepatic fibrosis, Hydronephrosis, Renal cyst, Hypoplasia of penis, U...	ORPHA:93271
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defe...	ORPHA:199
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Hypospadias	ORPHA:495875
Branchiooculofacial Syndrome	Renal agenesis, Ectopic thymus tissue, Renal cyst, Duplication of internal organs, Hypospadias	OMIM:113620
Norrie Disease	Abnormality of the diencephalon	ORPHA:649
C Syndrome	Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1308
Genitopatellar Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Mi...	OMIM:606170
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Atrial septal defect, Hy...	OMIM:308205
Pmm2-Cdg	Hepatic fibrosis, Hypertrophic cardiomyopathy, Proteinuria, Impaired neutrophil chemotaxis, Abnor...	ORPHA:79318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Pallister-Killian Syndrome	Aortic valve stenosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Renal cyst, Atrial...	OMIM:601803
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fallot, Vesicoureteral reflux, Uretero...	OMIM:164210

Histopathology

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

There is no histopathology data for Agtr1a

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 Agtr1a.

No publications found that use IMPC mice or data for Agtr1a.

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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
Agtr1a^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Agtr1a^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Agtr1a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Agtr1a^{em1(IMPC)Rbrc}	Indel	Mice
Agtr1a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Agtr1a MGI:87964

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

X-ray

X-ray

Gross Pathology and Tissue Collection

Human diseases caused by Agtr1a mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data