Gene Summary

Name:
adrenergic receptor, beta 2
Synonyms:
Adrb-2,  beta 2-AR,  Badm,  beta 2-adrenoceptor,  Gpcr7

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Adrb2em1(IMPC)Mbp HOM   Early adult 4.17×10-06
abnormal eye morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Adrb2em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Adrb2em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

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 Adrb2 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.

The table below shows human diseases associated to Adrb2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Asthma, Susceptibility To
OMIM:600807

The table below shows human diseases predicted to be associated to Adrb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Nephronophthisis, Situs inversus totalis, Pulmonic... OMIM:615382
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Truncus arteriosus, Hepatic fi... OMIM:615415
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Abnormal heart morphology, Acute kidney injury, Cholestasis, Ne... ORPHA:85445
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Bile duct proliferation,... OMIM:208540
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Situs inversus totalis, Stage 5 chronic k... OMIM:602088
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia, Pulmonic stenosis, Atr... OMIM:616201
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Thickened cortex of long bones, Calvarial osteosclerosis OMIM:607634
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Sensorineural hearing ... OMIM:616648
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelone... ORPHA:730
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Atrioventricular canal defect, Transposition of the great arter... OMIM:314390
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Focal segmental glomerulosclerosis, Optic atrophy, Neu... OMIM:617303
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Bone ... OMIM:166600
Galactosemia Iii
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... ORPHA:464329
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... OMIM:618495
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Hepatic calcification... OMIM:608836
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy, Abnormal autonomic nervous ... ORPHA:85447
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Sensorineural hearing imp... ORPHA:93476
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Neph... OMIM:276700
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Sen... OMIM:617713
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly OMIM:615085
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Obesity, Hypertension, Childhood-onset truncal obesity ORPHA:71529
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Hearing impairment, Thrombocytopeni... ORPHA:858
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialy... OMIM:256550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Sple... ORPHA:66661
Meacham Syndrome
Dextrocardia, Horseshoe kidney, Bicuspid aortic valve, Ventricular septal defect, Cardiac total a... OMIM:608978
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Abnormality of the pinna, Pancre... OMIM:200995
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Sandhoff Disease
Hearing impairment, Hepatomegaly, Splenomegaly ORPHA:796
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... OMIM:611490
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Osteopetrosis, Autosomal Recessive 2
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomegaly,... OMIM:259710
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Optic atrophy, Heavy proteinuria, Nephrotic syndrome, Leukopenia, Ab... ORPHA:505248
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachycardia, Bradycardia, Cyanosis, Cardiac arrest, Hypotension ORPHA:70587
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Obesity Due To Sim1 Deficiency
Obesity, Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Hearing impairment, Splenomegaly, Heparan sulfate excretion in urine,... OMIM:252920
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Posterior helix pit... OMIM:130650
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... ORPHA:615
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis OMIM:613313
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Pericarditis... ORPHA:449395
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Enlarge... OMIM:608022
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hepatocellular carcinoma, Decrease... OMIM:232220
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Decreased glomerular ... OMIM:232200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Hearing impairment, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrotia, Cardiomegaly OMIM:300886
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Cardiomegaly OMIM:613576
H Syndrome
Lymphadenopathy, Hearing impairment, Micropenis, Hepatosplenomegaly, Microcytic anemia, Abnormali... ORPHA:168569
Perry Syndrome
Weight loss, Hypotension ORPHA:178509
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Cardiogenic Shock
Right ventricular failure, Hypoxemia, Mitral regurgitation, Low pulse pressure, Elevated jugular ... ORPHA:97292
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... ORPHA:251004
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... OMIM:603903
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Low-frequency sensorineural hearing impairment, Hepatosple... OMIM:613101
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Abdominal situs inversus, Renal agenes... OMIM:306955
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... ORPHA:79301
Analbuminemia
Lipodystrophy, Hypotension OMIM:616000
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Ventricular septal defect, Right ventricular dilatation, Pericardia... ORPHA:79328
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Optic atrophy, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thr... ORPHA:79312
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis OMIM:602390
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Microtia, Nephroblastoma, Enlarged kidney ORPHA:276280
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Ventricular septal defect, Mitral valve prolapse, Renal malrotation, Macroti... ORPHA:500095
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Endocrine-Cerebroosteodysplasia
Hypospadias, Abnormality of the pinna, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged... OMIM:612651
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... OMIM:618892
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Chromosome 5Q12 Deletion Syndrome
Decreased body mass index, Hypotension OMIM:615668
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... ORPHA:85451
Hemochromatosis, Type 1
Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Splenomegaly, Cirr... OMIM:235200
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroe... OMIM:212140
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly OMIM:602271
Beckwith-Wiedemann Syndrome
Congenital megaureter, Posterior helix pit, Splenomegaly, Nephropathy, Hypercalciuria, Nephroblas... ORPHA:116
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... ORPHA:1215
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Cardiomegaly, Anemia, Acute kidney injury, Congenital thrombocytopen... OMIM:618886
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:616719
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Hearing impairment OMIM:618838
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Splenomegaly ORPHA:2204
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy OMIM:600649
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, Pathologic frac... OMIM:259700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly, Hearing impairment ORPHA:3137
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Myocardial fibrosis, Nephroblastoma OMIM:253250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairment, Atrial septal defect, ... OMIM:618652
Sialidosis Type 2
Hepatomegaly, Ascites, Hearing impairment, Splenomegaly, Nephropathy ORPHA:87876
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy, Hearing impai... OMIM:105210
Refsum Disease, Classic
Sensorineural hearing impairment, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... OMIM:616828
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis... ORPHA:848
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Hepatocellular carcinoma, Nephrocalcinosis, Increased hepatic ... ORPHA:79259
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Atrial Standstill 2
Atrial standstill, Scarring, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Ab... OMIM:615745
Immunodeficiency 32B
Splenomegaly OMIM:226990
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Renal tubular acidosis, Hepatomegaly, Hepatic steatosis OMIM:255120
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly OMIM:615846
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Cyanosis, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Sensorineural hearing impairment, ... ORPHA:290
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Abnormal blood gas level, Vasculitis, Hypotension ORPHA:70578
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Mogs-Cdg
Hepatomegaly, Optic atrophy, Cardiomegaly, Absent brainstem auditory responses, Left ventricular ... ORPHA:79330
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hearing impairment, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric se... OMIM:252900
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... ORPHA:108
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Timothy Syndrome
Ventricular septal defect, Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot OMIM:601005
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Sensorineural hearing impairment, Splenomegaly OMIM:611762
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pa... OMIM:259720
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... OMIM:259730
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... OMIM:612541
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Splenomegaly ORPHA:29
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Exercise-induce... OMIM:201475
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Facial telangiectasia, Palpitations, Weight loss, Melena, Tricuspid re... ORPHA:100080
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Hypotension, Orthostatic hypotension ORPHA:556037
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... OMIM:617394
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hypotension OMIM:203400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Choles... OMIM:615630
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Hepatocellular carcinoma, Abnormal ren... ORPHA:158057
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Coach Syndrome 1
Hepatomegaly, Optic disc pallor, Hepatic fibrosis, Nephronophthisis, Multiple small medullary ren... OMIM:216360
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Lymphadeno... OMIM:602782
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Lymphadenopathy, Hematuria, Splenomegaly, Sensorineu... ORPHA:36412
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... OMIM:602347
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Ventricular septal defect, Ascites, Lar... OMIM:616897
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Hypotension, Orthostatic hypotension ORPHA:556030
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune... OMIM:613011
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal concentration of acylcarnitine in the urine,... ORPHA:391428
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:228308
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Hepatic steatosis, Elevated urinary 3-hydroxyb... ORPHA:42
Glycogen Storage Disease Ii
Hearing impairment, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:85414
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Posterior helix pit, Splenomegaly, Hearing impairment, Nephroblastoma, Ventricular s... OMIM:312870
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegal... OMIM:614866
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Facial telangiectasia, Palpitations, Weight loss, Melena, Tricuspid re... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Facial telangiectasia, Palpitations, Weight loss, Melena, Tricuspid re... ORPHA:100082
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, Abnormality of the liver, Glo... ORPHA:91138
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... OMIM:606003
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Leprechaunism
Hypertrophic cardiomyopathy, Hepatomegaly, Protruding ear, Long penis, Nephrocalcinosis, Enlarged... ORPHA:508
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Optic atrophy, Ventricular septal defect, Proximal tubulopathy, Splenomegaly, Cirrh... OMIM:614576
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Sensorineural hearing impairment, Macrocytic anemia, Cardiomyopathy, Splenomegaly OMIM:619046
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Hypotension OMIM:264350
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, An... ORPHA:77259
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillar... ORPHA:542323
Acute Lung Injury
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of tumor ne... ORPHA:178320
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Pseudopapilledema, Abnormal granulocyte morp... ORPHA:1451
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Oligosacchariduria, Hearing imp... OMIM:230000
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Abdominal obesity, Truncal obesity OMIM:615812
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... OMIM:194380
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Weight loss, Arrhythmia, Hypotension ORPHA:188
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Hypersplenism, Right atrial enlar... OMIM:616028
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Abnormal heart morphology, Macrotia, Poster... ORPHA:171929
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Facial diplegia, Splenomegaly OMIM:205400
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Muckle-Wells Syndrome
Hepatomegaly, Optic atrophy, Nephrotic syndrome, Anemia, Renal amyloidosis, Splenomegaly, Nephrop... ORPHA:575
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Overfolded helix, Macrotia, Cardiomegaly, Abnormal atrioventricular valve ... ORPHA:324410
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Sensorineural hearing impairment, Abnormal ner... ORPHA:93474
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Abnormal heart morphology, Anemia, Splenomegal... ORPHA:398124
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
American Trypanosomiasis
Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hematuria, Hepatitis, Bone marrow hypoc... ORPHA:549
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Sp... ORPHA:829
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Splenom... ORPHA:465508
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hearing impair... ORPHA:349
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hypotension OMIM:177735
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia, Tachycardia OMIM:601887
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Osteopetrosis, Decreased circulating IgG level, Anemia, Splenome... OMIM:612301
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Low-set, posteriorly rotated ears, Splenomegaly, Pancyto... ORPHA:85212
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Nipah Virus Disease
Hypotension ORPHA:99825
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... OMIM:618935
Beck-Fahrner Syndrome
Ventricular septal defect, Protruding ear, Cardiomegaly, EEG abnormality OMIM:618798
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly OMIM:609981
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Urinary incontinence, Hepatosplenomegaly OMIM:268800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Cardiomyopath... OMIM:616084
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Decreased nerve conduction velocity, Splenomega... ORPHA:812
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Anemia, Low-set, posteriorly rotated ears, Orotic acid... ORPHA:30
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice OMIM:613812
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Palpitations, Weight loss, Tricuspid regurgitat... ORPHA:97287
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Renal t... ORPHA:370
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hearing impairment, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric se... OMIM:252930
Macrophage Activation Syndrome
Increased circulating interleukin 6, Increased serum interferon-gamma level, Abnormality of tumor... ORPHA:158061
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta OMIM:617022
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Increased hepatic glycogen content, Cardiomegaly, Cardiomyopathy, 3-Methylglutacon... OMIM:619259
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... ORPHA:231222
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly ORPHA:75233
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Adult Krabbe Disease
Urinary incontinence, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Cockayne Syndrome A
Hepatomegaly, Optic atrophy, Abnormal auditory evoked potentials, Thymic hormone decreased, Abnor... OMIM:216400
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Cyanosis, Congestive heart failure, First degree a... OMIM:600309
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased circulating a... ORPHA:540
Aredyld Syndrome
Hepatomegaly, Abnormality of the ureter, Low-set, posteriorly rotated ears, Splenomegaly, Abnorma... ORPHA:1133
Cockayne Syndrome Type 1
Hepatomegaly, Optic atrophy, Anemia, Absent brainstem auditory responses, Macrotia, Hearing impai... ORPHA:90321
Omenn Syndrome
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... ORPHA:39041
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Increased hepati... OMIM:614921
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural... ORPHA:529799
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ascites, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Microtia, Thromboc... OMIM:608013
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular ... ORPHA:3240
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Microtia OMIM:613320
Scrub Typhus
Lymphadenopathy, Renal insufficiency, Myocarditis, Splenomegaly ORPHA:83317
Felty Syndrome
Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Bone ma... ORPHA:47612
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly OMIM:608885
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Cyanosis, Arrhythmia, Hypotension ORPHA:159
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Urinary urgency, Abnormality of somatosensory evoked potenti... ORPHA:99027
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Hearing impairment, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric se... OMIM:252940
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis OMIM:613027
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poik... OMIM:618278
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Small for gestational age ORPHA:391673
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia, Aortic valve s... OMIM:230800
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Weight loss, Arterial occlusion, Pul... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Weight loss, Arterial occlusion, Pul... ORPHA:100077
Mucopolysaccharidosis Type 6
Hearing impairment, Mucopolysacchariduria, Abnormal heart valve morphology, Splenomegaly ORPHA:583
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Familial Hypoaldosteronism
Failure to thrive, Hypovolemia, Hypotension, Orthostatic hypotension ORPHA:427
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Ascites, Cardiomegaly, Cirrhosis, Left ventricular hypertr... ORPHA:57777
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... ORPHA:822
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Optic atrophy, Splenomegaly, Sensorineural hearing impairmen... ORPHA:585
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension ORPHA:79455
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Ja... ORPHA:90033
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:235555
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Hypotension OMIM:263400
Cockayne Syndrome B
Hepatomegaly, Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... OMIM:133540
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... ORPHA:131
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Palpitations, Weight loss, Melena, Tricuspid re... ORPHA:100075
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Hearing impairment, Oligosacchariduria, ... ORPHA:308552
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Thr... ORPHA:905
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... OMIM:308230
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormality of the urinary sys... OMIM:230500
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... OMIM:607765
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Ascites, Spl... OMIM:235255
Syndromic Diarrhea
Renal hypoplasia, Hepatomegaly, Increased mean platelet volume, Thrombocytosis, Hepatic fibrosis,... ORPHA:84064
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Hem... ORPHA:781
Myelofibrosis
Myeloproliferative disorder, Splenomegaly