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Gene: Ptger1 MGI:97793

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
prostaglandin E receptor 1 (subtype EP1)
Synonyms:
Ptgerep1,  42kDa,  EP1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ptger1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ptger1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri... ORPHA:976
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... ORPHA:97362
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... ORPHA:188
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal b... ORPHA:31824
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated creatine kinase after exercise, Dicarboxylic aciduria, Elevated circulatin... ORPHA:159
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Kerion Celsi
Fever, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ski... ORPHA:499
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Dysphagia, P... ORPHA:220393
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... OMIM:619468
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever, Lymphadenopathy ORPHA:319600
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Polydipsia, Decreased circulating renin level OMIM:613677
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis ORPHA:1054
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Lassa Fever
Shock, Oliguria, Dysphagia ORPHA:99824
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges... ORPHA:727
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Recurrent infections, Lymphadenopathy, Decreased circulating antibody level, ... OMIM:618261
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... ORPHA:320
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Coproporphyria, Hereditary
Hypertension, Tachycardia, Jaundice OMIM:121300
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Fever, Pancytopenia, Decreased circul... OMIM:619924
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... ORPHA:319213
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Mantle Cell Lymphoma
Fever, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Hypokale... ORPHA:251274
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Fever, Splenomegaly, Recurrent upper respiratory tract infections, Lymphadenopathy, Hepatosplenom... OMIM:613101
Variegate Porphyria
Tachycardia OMIM:176200
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, O... ORPHA:90051
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... ORPHA:277
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Obesity ORPHA:99976
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... ORPHA:84090
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... OMIM:605258
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection... ORPHA:731
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... OMIM:619846
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, A... ORPHA:911
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... ORPHA:31826
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... ORPHA:85447
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Glome... ORPHA:2260
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypokalemia, Increased circul... OMIM:612780
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Hypocalcemia, Acute kidn... ORPHA:544482
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Hypovolemia, E... ORPHA:223
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Increased urinary potassium, Hypertension, Hypokalemia, Palpitations, Polydipsia, Decr... ORPHA:231580
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... ORPHA:173
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy OMIM:105200
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Immunodeficiency, Common Variable, 2
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas... OMIM:240500
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Hemophagocytic Lymphohistiocytosis, Familial, 4
Fever, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, Recurr... OMIM:603552
Hypercalcemia, Infantile, 2
Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Mu-Heavy Chain Disease
Fever, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level... ORPHA:100024
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Polydipsia ORPHA:403
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Lymphadenopathy, Arthritis, Conjunctivitis, Periodic fever OMIM:617772
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, H... ORPHA:466650
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, P... OMIM:212138
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... ORPHA:85445
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Immunodeficiency 32A
Fever, Lymphadenitis, Recurrent infections, Lymphadenopathy, Granuloma OMIM:614893
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior, Chronic ki... ORPHA:84081
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Recurrent bacterial infect... OMIM:608106
Gitelman Syndrome
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricul... OMIM:263800
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Polyphagia, Attention deficit hy... ORPHA:369873
Immunodeficiency 27A
Fever, Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteri... OMIM:209950
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... ORPHA:98764
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Lymphoproliferative Syndrome 2
Fever, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Uveitis, Lymphad... OMIM:615122
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Central Diabetes Insipidus
Hyponatremia, Polydipsia, Nocturia, Anorexia ORPHA:178029
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Dilated... OMIM:600649
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Increased serum seroto... ORPHA:100083
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... ORPHA:369929
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Denys-Drash Syndrome
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma ORPHA:220
Proteasome-Associated Autoinflammatory Syndrome 2
Fever, Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Recurrent viral... OMIM:618048
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce... ORPHA:567548
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform der... OMIM:606367
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Recurrent fever OMIM:618852
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Rosaï-Dorfman Disease
Fever, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Tularemia
Fever, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid mor... ORPHA:3392
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... ORPHA:2686
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo... OMIM:614470
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Re... ORPHA:98813
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Decreased circul... ORPHA:397596
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Recurrent i... OMIM:301078
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Papa Syndrome
Fever, Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Incr... ORPHA:69126
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Fever, Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lym... OMIM:618935
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel... OMIM:619375
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Selective Igm Deficiency
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... ORPHA:331235
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... ORPHA:449285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de... OMIM:616100
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Alpha-Heavy Chain Disease
Fever, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Stiff-Person Syndrome
Hypertension, Exaggerated startle response, Tachycardia OMIM:184850
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu... ORPHA:199343
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Sepsis, T lymphocytopenia, Leukopenia, Neutropenia, D... OMIM:618986
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Schnitzler Syndrome
Fever, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, A... ORPHA:37748
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Epistaxis, Jaundice, Hypotension, Increased circulati... ORPHA:91547
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Abno... OMIM:612840
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Pfapa Syndrome
Abnormality of temperature regulation, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arth... ORPHA:42642
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... ORPHA:90038
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri... OMIM:239200
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium OMIM:611489
Manganese Poisoning
Postural tremor, Akinesia, Depression, Irritability, Gait disturbance, Inappropriate laughter, Dy... ORPHA:306682
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Heparan sulfate exc... OMIM:252920
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Megacystis, Polyuria OMIM:125800
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... ORPHA:79155
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Megacystis, Polyuria OMIM:304800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurr... OMIM:602450
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Omenn Syndrome
Fever, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Lymphadenopathy,... ORPHA:39041
Summitt Syndrome
Obesity OMIM:272350
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... ORPHA:47612
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556037
Macrophage Activation Syndrome
Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnorm... ORPHA:158061
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... OMIM:620300
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Hypercalcemia, Infantile, 1
Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Aregenerative Anemia
Fever, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotio... ORPHA:101096
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Splenomegaly, Lymphadenopathy ORPHA:86893
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:603909
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... OMIM:115197
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... OMIM:308230
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Combined Immunodeficiency Due To Crac Channel Dysfunction
Fever, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacte... ORPHA:169090
Nipah Virus Disease
Hypotension, Anorexia ORPHA:99825
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Bardet-Biedl Syndrome 17
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... OMIM:615994
Mercury Poisoning
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... ORPHA:47159
Immunodeficiency 54
Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphadenopathy, Adre... OMIM:609981
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... OMIM:618886
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Jaundice, Dilated cardiomyopat... ORPHA:26793
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension, Renal salt wasting OMIM:264350
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Tachycardia ORPHA:79264
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Perry Syndrome
Akinesia, Tremor, Depression, Inappropriate behavior, Dystonia, Short stepped shuffling gait OMIM:168605
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556030
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:601859
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly... OMIM:617671
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, R... OMIM:607115
Follicular Lymphoma
Fever, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Recurrent infections, Recurrent b... OMIM:612783
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Tachycardia, Elevated circulating aspartate aminotransferase conce... OMIM:614921
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myocardial infarction, Ano... ORPHA:3452
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... ORPHA:427
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly... OMIM:269920
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Deafness-Lymphedema-Leukemia Syndrome
Fever, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, L... ORPHA:3226
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Jaundice ORPHA:90033
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Classic Hodgkin Lymphoma
Fever, Ataxia, Skin rash, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le... ORPHA:507
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233710
Infant Botulism
Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia ORPHA:178478
Hsd10 Disease
Ataxia, Tremor, Choreoathetosis, Gait disturbance, Abnormal social behavior ORPHA:391417
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... ORPHA:240094
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100080
Gamma-Heavy Chain Disease
Fever, Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune throm... ORPHA:100026
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hyperte... ORPHA:525731
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... OMIM:619644
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... ORPHA:391411
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Familial Hemophagocytic Lymphohistiocytosis
Fever, Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Red... ORPHA:540
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Recurrent pneumonia, Lymphadenopathy, Hepato... ORPHA:353298
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233690
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Increase... OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Inability to walk, S... OMIM:257200
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphaden... OMIM:614034
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Fever, Autoimmune hemolytic anemia, D... OMIM:614162
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Myocarditis, Splenomegaly... ORPHA:549
Postencephalitic Parkinsonism
Fever, Resting tremor, Oculogyric crisis, Akinesia, Depression, Tremor by anatomical site, Abnorm... ORPHA:97349
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Granulomatous Disease, Chronic, X-Linked
Fever, Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Oste... OMIM:306400
Boutonneuse Fever
Fever, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia,... ORPHA:83313
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:212140
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... ORPHA:358
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Recurrent infections, Arth... OMIM:617591
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... OMIM:243910
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... OMIM:615978
Serotonin Syndrome
Hypertension, Tachycardia, Hepatic failure, Hypotension ORPHA:43116
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability, H... ORPHA:3198
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Yellow Fever
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... ORPHA:99829
Rhabdoid Tumor
Fever, Lymphadenopathy, Anemia, Irritability, Thrombocytopenia ORPHA:69077
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... OMIM:607454
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Griscelli Syndrome
Fever, Ataxia, Abnormality of neutrophils, Splenomegaly, Hepatitis, Lymphadenopathy, Decreased ci... ORPHA:381
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... OMIM:266500
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Aceruloplasminemia
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Akinesia, Tremor, Limb ataxia, Gait at... ORPHA:48818
Classic Mycosis Fungoides
Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100082
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Hyp... ORPHA:37042
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Decreased circulating lutei... ORPHA:453533
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating alkaline phosphatase concentration, Tachycardia, Elevated hepatic transaminase ORPHA:263455
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Ataxia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Dec... OMIM:615688
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... ORPHA:268
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Follicular hyperplasia, Increased circulat... OMIM:615934
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Fever, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal ... ORPHA:54251
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... OMIM:256550
Spinocerebellar Ataxia Type 21
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Porphyria Variegata
Elevated hepatic transaminase, Hypertension, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:79473
Corticobasal Syndrome
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy, Abnormal conc... ORPHA:391428
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ ... ORPHA:98848
Systemic-Onset Juvenile Idiopathic Arthritis
Fever, Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile rheumat... ORPHA:85414
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... ORPHA:94093
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Skin rash, Eosinophilia, Pustule, Myocarditis, Thyroiditis, Hepatitis, Lymphadenopathy, Tu... ORPHA:139402
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Decreased circulatin... OMIM:619750
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:177735
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Sudden c... OMIM:201475
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension OMIM:619064
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Anorexia, Hyperammonemia, Hypertension, Agitation, Hyperuricemia, Hypote... ORPHA:134
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Beta-Thalassemia
Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microc... ORPHA:848
Meningococcal Meningitis
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia, Hypo... ORPHA:33475
Primary Myelofibrosis
Fever, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, ... ORPHA:824
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hyper... OMIM:616878
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no... ORPHA:543
Scrub Typhus
Fever, Anterior uveitis, Skin rash, Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Infectiou... ORPHA:83317
Hemophagocytic Lymphohistiocytosis, Familial, 2
Fever, Pancytopenia, Ataxia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Throm... OMIM:603553
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Increased circulating ferriti... OMIM:235200
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Sézary Syndrome
Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymp... ORPHA:3162
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol concentration, A... ORPHA:399
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytos... OMIM:260920
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... ORPHA:42
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ... ORPHA:3261
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating lactate dehydrogenase concentration, Elev... ORPHA:466677
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Graft Versus Host Disease
Elevated hepatic transaminase, Tachycardia, Jaundice, Chronic hepatitis, Elevated circulating alk... ORPHA:39812
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Brain-Lung-Thyroid Syndrome
Hyperactivity, Ventricular septal defect, Hypospadias, Abnormal eating behavior, Megacystis, Abno... ORPHA:209905
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, High-output congestive heart failure, Ventricular tachycardia, Premature v... ORPHA:423
Adult-Onset Still Disease
Fever, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Splenomegaly, Leukocyt... ORPHA:829
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase... OMIM:617099
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ... OMIM:619051
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic ca... OMIM:614702
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephroblastoma, Hypercalcemia, Shortened QT interval, Nephr... ORPHA:99880
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:97287
Griscelli Syndrome Type 2
Fever, Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypotension ORPHA:199296
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia ORPHA:348
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Salt craving, Renal insufficiency, Hypercalcemia, Myocardi... ORPHA:95409
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Elevated circulating alkaline phos... ORPHA:330001
Roifman Syndrome
Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media OMIM:616651
Cutaneous Mastocytoma
Elevated total serum tryptase, Telangiectasia of the skin, Hypotension, Telangiectasia macularis ... ORPHA:79455
Malt Lymphoma
Fever, Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadeno... ORPHA:52417
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, ... ORPHA:167
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephroblastoma, Hypercalcemia, Shortened QT interval, Nephr... ORPHA:143
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Intermittent hypothermia, Oculogyric crisis, Limb trem... OMIM:608643
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... OMIM:253250
Perry Syndrome
Hypotension ORPHA:178509
Cinca Syndrome
Fever, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis, Uveiti... ORPHA:1451
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Mirizzi Syndrome
Elevated hepatic transaminase, Tachycardia, Elevated circulating alkaline phosphatase concentrati... ORPHA:521219
Acute Lung Injury
Shock, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Increa... ORPHA:178320
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension OMIM:603903
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Hyp... ORPHA:361
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia ORPHA:240071
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Hypotension ORPHA:91354
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... ORPHA:247234
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Familial Cold Urticaria
Polydipsia ORPHA:47045
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia OMIM:606693
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Panhypophysitis
Hyponatremia, Polydipsia, Hyposthenuria, Orthostatic hypotension ORPHA:95513
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis, Recurrent fever OMIM:619183
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:858
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Broad-based gait, Hypogonadotropic hypogonadism, Dysmetria, Decreased circulating luteinizing hor... OMIM:619761
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Rh Deficiency Syndrome
Increased circulating lactate dehydrogenase concentration, Tachycardia, Jaundice ORPHA:71275
African Trypanosomiasis
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Abnormality of the endocrine system, Abnormality... ORPHA:3385
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Hepatitis, Capillary leak, Hypotension ORPHA:36234
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Systemic Mastocytosis With Associated Hematologic Neoplasm
Elevated total serum tryptase, Tachycardia, Syncope, Hypotension ORPHA:98849
Erdheim-Chester Disease
Renal insufficiency, Abnormal pericardium morphology, Dysuria, Congestive heart failure, Abnormal... ORPHA:35687
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoprote... ORPHA:99828
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:616030
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, C... OMIM:617713
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Cardiomyopathy, Abnorma... ORPHA:3463
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Akinesia, Dystonia OMIM:300894
Mevalonic Aciduria
Normocytic hypoplastic anemia, Ataxia, Skin rash, Fluctuating splenomegaly, Thrombocytopenia, Leu... OMIM:610377
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... ORPHA:99827
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... ORPHA:537
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphth... ORPHA:343
Diffuse Cutaneous Mastocytosis
Fever, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis, Er... ORPHA:79456
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ... ORPHA:100075
Fragile X-Associated Tremor/Ataxia Syndrome
Dysphagia, Hypertension, Pollakisuria, Hypotension, Compulsive behaviors, Urinary bladder sphinct... ORPHA:93256
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Hypochromic microcytic anemia, Hypothyroidism, Akinesia OMIM:619147
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, De... OMIM:308750
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenop... ORPHA:98850
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... ORPHA:1332
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Recurrent abscess formation, P... OMIM:619381
Acute Generalized Exanthematous Pustulosis
Fever, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocy... ORPHA:293173
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Ataxia, Skin rash, Splenomegaly, Uveitis, Lymphadenopathy, Recurrent bacterial infe... ORPHA:36412
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... ORPHA:428
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Hematochezia, Hypoalbuminemia... OMIM:618183
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... ORPHA:100078
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Mixed Connective Tissue Disease
Fever, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Mediastinal ... ORPHA:809
American Trypanosomiasis
Fever, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis ORPHA:3386
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... ORPHA:99931
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Staphylococcal Necrotizing Pneumonia
Shock, Elevated circulating C-reactive protein concentration, Addictive alcohol use, Hypotension ORPHA:36238
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Proximal tubulopathy, Polyuria OMIM:560000
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated circulating cr... OMIM:608836
Kaposi Sarcoma
Fever, Abnormality of the spleen, Generalized lymphadenopathy, Skin rash ORPHA:33276
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Pediatric Systemic Lupus Erythematosus
Fever, Myositis, Skin rash, Discoid lupus rash, Malar rash, Lymphadenopathy, Leukopenia, Arthriti... ORPHA:93552
Gaucher Disease, Perinatal Lethal
Akinesia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opisthotonus, Anemia OMIM:608013
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Tay-Sachs Disease
Exaggerated startle response, Precocious puberty, Inability to walk, Tremor, Dysmetria, Hepatospl... ORPHA:845
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, De... OMIM:308700
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Recurrent bacterial infection... OMIM:615895
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Acute Intermittent Porphyria
Hypertension, Tachycardia, Abnormal circulating enzyme concentration or activity ORPHA:79276
Waldenström Macroglobulinemia
Normocytic anemia, Fever, Ataxia, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Recu... ORPHA:33226
Trigeminal Neuralgia
Allodynia ORPHA:221091
Necrotizing Enterocolitis
Shock, Hyponatremia, Abnormal heart morphology, Bradycardia, Hypotension ORPHA:391673
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Irritability, Hemophagocytos... OMIM:267700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:614897
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Hereditary Late-Onset Parkinson Disease
Resting tremor, Akinesia, Depression, Low frustration tolerance, Shuffling gait, Dystonia ORPHA:411602
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Acute Promyelocytic Leukemia
Fever, Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, St... ORPHA:520
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Incr... ORPHA:100093
Multiple Pterygium Syndrome, Lethal Type
Malignant hyperthermia, Akinesia OMIM:253290
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
H Syndrome
Diabetes mellitus, Psoriasiform dermatitis, Microcytic anemia, Recurrent pharyngitis, Bronchiecta... ORPHA:168569
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypotension OMIM:615668
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep... ORPHA:1304
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Ataxia, Skin rash, Pustule, Splenomegaly, Cervical lymphadenopathy, ... ORPHA:50918
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Pneumonia, Recurrent viral infections, Recurrent pneumonia, ... ORPHA:420741
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy OMIM:618321
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Lymphadenop... OMIM:617827
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Pulmonary Non-Tuberculous Mycobacterial Infection
Fever, Bronchiectasis, Lymphadenopathy ORPHA:411703
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Hypoka... ORPHA:769
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Increase... ORPHA:465508
Periodic Fever, Familial, Autosomal Dominant
Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Oligoarthritis, Conjuncti... OMIM:142680
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... OMIM:617718
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Melkersson-Rosenthal Syndrome
Fever, Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy ORPHA:2483
48,Xxxy Syndrome
Recurrent respiratory infections, Tremor, Irritability, Hypogonadism, Type II diabetes mellitus, ... ORPHA:96263
Lig4 Syndrome
Pancytopenia, Leukocytosis, Acute leukemia, Lymphadenopathy, Type II diabetes mellitus, Hypothyro... ORPHA:99812
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Q Fever
Fever, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Thrombocyto... ORPHA:781
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Congenital Myopathy 9A
Akinesia OMIM:618822
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Recurrent pha... ORPHA:32960
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response OMIM:617028
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly OMIM:619259
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
Pseudomyxoma Peritonei
Inflammation of the large intestine, Lymphadenopathy ORPHA:26790
Isolated Osteopoikilosis
Addictive alcohol use, Abnormality of the kidney, Abnormal heart morphology ORPHA:166119
Aicardi-Goutieres Syndrome 7
Fever, Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Atrophic gastritis, Chilblain... OMIM:615846
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Gonadoblastoma, Obesity OMIM:194072
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Ketonuria, Cardiac arrest, Anorexia, Dilated cardiomyopathy, Hyperammonemia, 3-Meth... ORPHA:20
Marchiafava-Bignami Disease
Addictive alcohol use, Urinary incontinence, Aggressive behavior ORPHA:221074
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level OMIM:202150
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... OMIM:607944
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... ORPHA:505248
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Limb dystonia OMIM:616840
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Marburg Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Jaundice, Hypovolemia, Capillary... ORPHA:99826
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Abnormali... ORPHA:228123
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Cholecystitis, Dystonia, Emotional lability, ... ORPHA:309256
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Low-grade fever, Lymphadenopathy, Hepatosplen... ORPHA:85408
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated hepatic transaminase, Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia, Hypo... ORPHA:199299
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... ORPHA:101330
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Elevated circulat... OMIM:229070
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ... OMIM:614837
Hellp Syndrome
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... ORPHA:244242
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... OMIM:105210
Nephroblastoma
Fever, Lymphadenopathy ORPHA:654
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Tubulointerstitial nephritis... ORPHA:85450
Poliomyelitis
Anorexia, Hypertension, Hypovolemic shock, Agitation, Hypotension, Dysphagia ORPHA:2912
Addison Disease
Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting,... ORPHA:85138
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter ORPHA:142
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... OMIM:616897
Congenital Enterovirus Infection
Myocarditis, Hepatitis, Cardiomyopathy, Hypotension, Hepatic failure ORPHA:292
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Elevated circulating thyroi... OMIM:256040
Poems Syndrome
Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Primary adrenal insufficien... ORPHA:2905
Castleman Disease
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... ORPHA:160
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Irritability, Falls, Gait imbalance, Retrocollis OMIM:609454
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Irritability, Falls, Gait imbalance, Retrocollis, Limb dystonia OMIM:601104
Insulinoma
Increased body weight, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Neoplasm of the... ORPHA:97279
Septo-Optic Dysplasia Spectrum
Polydipsia, Hypoplasia of penis ORPHA:3157
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts... ORPHA:509
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Akinesia, Acanthocytosis, Hand tremor, Poikilocytosis, Dystonia OMIM:618947
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Behçet Disease
Fever, Increased inflammatory response, Myositis, Pericarditis, Ataxia, Acne, Orchitis, Splenomeg... ORPHA:117
Acute Interstitial Pneumonia
Fever, Bronchiectasis, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Acanthocytosis, Tremor, Depression, Choreoathetosis, Blepharospasm, Gait distur... OMIM:234200
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Histiocytosis-Lymphadenopathy Plus Syndrome
Fever, Episcleritis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula... OMIM:602782
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, H... ORPHA:90791
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Ataxia OMIM:616881
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
Lymphatic Filariasis
Fever, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereos... ORPHA:2035
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin ... OMIM:620306
Congenital Myopathy 12
Akinesia OMIM:612540
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:83469
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Cholecystitis, Dystonia, Emotional lability, Abnormal social behavior, I... ORPHA:309263
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia ORPHA:530983
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Mucopolysaccharidosis Type 3
Hepatomegaly, Hyperactivity, Aggressive behavior, Cardiomegaly, Hypersexuality, Splenomegaly, Hep... ORPHA:581
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Farber Disease
Recurrent upper respiratory tract infections, Lymphadenopathy, Anemia, Hepatosplenomegaly, Arthri... ORPHA:333
Metachromatic Leukodystrophy, Adult Form
Depression, Progressive gait ataxia, Cholecystitis, Difficulty walking, Dystonia, Emotional labil... ORPHA:309271
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... ORPHA:404443
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension ORPHA:100079
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Kawasaki Disease
Fever, Pericarditis, Skin rash, Recurrent pharyngitis, Leukocytosis, Cervical lymphadenopathy, My... ORPHA:2331
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card... ORPHA:365
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Irritability OMIM:617864
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Renal salt wasting, Hypovolemia, Hyperk... ORPHA:275761
Beck-Fahrner Syndrome
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly OMIM:618798
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, At... ORPHA:2495
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hypovolemia, Hyperkalemia, Abnormal urine potassium concentrati... ORPHA:168558
Hereditary Angioedema Type 1
Hypotension, Dysphagia ORPHA:100050
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Pde4D Haploinsufficiency Syndrome
Hypospadias, Hypotension ORPHA:439822
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Emotional blunting, Anemia ORPHA:86309
Ogden Syndrome
Jaundice, Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Suprave... OMIM:300855
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hypovolemia, Hyperkalemia, Abnormal urine potassium concentrati... ORPHA:289548
Sarcoidosis
Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidism, Hemoly... ORPHA:797
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Ataxia, Bone-marrow foam cells, Tremor, Splenomegaly, Hepatosplenomegal... ORPHA:646
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy ORPHA:158687
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Abnormality of the thyroid gland, In... ORPHA:449432
Familial Mediterranean Fever
Fever, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Lymphadenopa... ORPHA:342
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Depression, Lymphadenopathy, Le... ORPHA:536
Plague
Fever, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Unsteady gait, Seps... ORPHA:707
Klatskin Tumor
Fever, Lymphadenopathy ORPHA:99978
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Hypothermia OMIM:608800
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Abnormality of temperature regulation, Tremor, Splenomegaly, Ly... ORPHA:667
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Enuresi... ORPHA:293987
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Chikungunya
Fever, Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Crusting e... ORPHA:324625
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Idiopathic Hypereosinophilic Syndrome
Fever, Inflammatory abnormality of the skin, Generalized lymphadenopathy, Neutrophilia, Eosinophi... ORPHA:3260
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Hypertension, Pulmonary arterial hyperte... OMIM:606721
Igg4-Related Dacryoadenitis And Sialadenitis
Fever, Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, ... ORPHA:79078
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Alexander Disease
Sudden cardiac death, Self-injurious behavior, Hypertension, Hypotension, Dysphagia ORPHA:58
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Myocarditis, Adrenal pheochromocytoma,... ORPHA:892
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Recurrent otitis media, Recurrent lowe... OMIM:620233
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased body weight, Lung adenocarcinoma, Weight loss ORPHA:1501
Pituitary Apoplexy
Hyponatremia, Hypertension, Hypotension ORPHA:95613
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricu... ORPHA:254892
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Incr... ORPHA:449395
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased body weight, Renal cell carcinoma, Abdominal obesity, Neuroendocrine... ORPHA:189427
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... ORPHA:280365
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hennekam Syndrome
Recurrent respiratory infections, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decr... ORPHA:2136
Familial Pancreatic Carcinoma
Diabetes mellitus, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly ORPHA:1333
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le... ORPHA:1359
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior, Small pituitary gland ORPHA:93932
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Degcags Syndrome
Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis OMIM:619488
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Abno... ORPHA:449563
Blau Syndrome
Fever, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nod... ORPHA:90340
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Sepsis, Lymphadenopathy, Polysplenia, Anemia OMIM:619418
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Congestive... OMIM:252500
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... ORPHA:904
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Sarcoidosis, Susceptibility To, 1
Fever, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Splenomegaly,... OMIM:181000
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Horseshoe k... OMIM:617140
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Congestive heart failure, De... ORPHA:14
Childhood Absence Epilepsy
Abnormal social behavior, Depression ORPHA:64280
Liver Disease, Severe Congenital
Cardiomegaly, Abnormal left ventricular function, Aminoaciduria, Hypocalcemia, Elevated hepatic i... OMIM:619991
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Atrial fibrillation, Prolonged QRS complex, Left ventricular systo... ORPHA:273
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Malakoplakia
Fever, Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary... ORPHA:556
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria OMIM:230000
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Lymphoma, Increased body weight, Hodgkin lymphoma, Weight loss, Multi... ORPHA:2298
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... OMIM:300967
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hyponatremia, Renal salt wasting, Long penis, Hypovolemia, Hyperkalemia, Elevated urinary ... ORPHA:90794
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Lymphangioleiomyomatosis
Fever, Recurrent respiratory infections, Abnormality of the lymphatic system, Lymphadenopathy, Pu... ORPHA:538
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia, Hypotension ORPHA:293978
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Hyperammonemia, Intracranial hemorrhage, Agitation, Hypotensi... ORPHA:90062
Prader-Willi Syndrome Due To Translocation
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:177907
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inappropriate laughter, Cardiomegaly OMIM:618143
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Congenital hypothyroidism OMIM:617527
Benign Schwannoma
Allodynia ORPHA:252164
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal social behavior, Int... ORPHA:314647
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Nephroblastoma, Elevated circulating alpha-fetoprotein concen... ORPHA:116
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Bradycardia, Nephroblastoma ORPHA:97297
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Hypothermia, Abnormality of the endocrine system,... ORPHA:438213
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... ORPHA:363958
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... ORPHA:289176
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyp... ORPHA:653
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Prolactinoma
Hypotension ORPHA:2965
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Cardiomegaly, Pericardial ... ORPHA:51608
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis ORPHA:100086
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Fever, Irritability, Exaggerated startle response OMIM:618367
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Cherubism
Marcus Gunn pupil, Submandibular lymph node enlargement OMIM:118400
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Depression, Pheochromocyt... ORPHA:805
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Hypertension, Ca... ORPHA:3472
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Aicardi-Goutières Syndrome
Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy ORPHA:51
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight, Pituitary corticotropic cell adenoma ORPHA:96253
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis ORPHA:137605
Mend Syndrome
Abnormal social behavior ORPHA:401973
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Ptger1

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 Ptger1.

No publications found that use IMPC mice or data for Ptger1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ptger1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptger1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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