Gene Summary

Name:
leucine rich repeat transmembrane neuronal 2
Synonyms:
C630011A14Rik

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
abnormal spleen morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
urinary bladder obstruction Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal lung morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Lrrtm2em1(IMPC)Mbp HOM   Early adult 4.44×10-05
abnormal lymph node morphology Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00
abnormal urinary bladder morphology Lrrtm2em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Lrrtm2em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

X-ray

XRay Images Whole Body Dorso Ventral

84 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

Human diseases caused by Lrrtm2 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 Lrrtm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Ethanolaminosis
Cardiomegaly OMIM:227150
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Kerion Celsi
Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Green urine, Cholestasis OMIM:614156
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hep... ORPHA:848
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... OMIM:603903
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren... ORPHA:3032
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes ORPHA:33111
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... OMIM:194380
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... ORPHA:464329
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Atrial septal defect, Splenomegaly, Hypertrophic car... OMIM:617303
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Pulmonary hypoplasia, Spontaneo... ORPHA:731
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia OMIM:300752
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal cortical adenoma, Pa... ORPHA:97290
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pul... OMIM:200995
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Absent gallbladder, Hepatic fibrosis, Horsesho... OMIM:612284
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Exerc... OMIM:232800
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Renal agenesis, Hypospadias, Tetralogy of ... ORPHA:1335
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... OMIM:608836
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Cystic renal... OMIM:156810
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Immunodeficiency 48
Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells, Recurrent respiratory inf... OMIM:269840
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Microcytic anemia, Decreased liver function ORPHA:79278
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic bronchitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Eleva... OMIM:613490
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Isolated Biliary Atresia
Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cir... ORPHA:30391
Lymphoid Interstitial Pneumonia
Hepatomegaly, Subpleural interstitial thickening, Multiple pulmonary cysts, Mediastinal lymphaden... ORPHA:79128
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Unilateral cryp... OMIM:618280
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Cirrhosis, Hepatic failure, Hepatocellul... OMIM:276700
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Glycogen Storage Disease Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Ca... OMIM:617713
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... ORPHA:171
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm... OMIM:611881
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Diaphanospondylodysostosis
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Pulmonary h... OMIM:608022
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormality of the lymph n... ORPHA:319487
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphadenopathy, ... ORPHA:858
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly OMIM:269920
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia, C... OMIM:613313
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Cholelithiasis, Double outlet right ventricle, Atrial septal defect, H... OMIM:614886
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morphology, T... OMIM:607616
Mirizzi Syndrome
Dark urine, Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol ga... ORPHA:521219
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymp... OMIM:618495
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:614377
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Pulmonary cyst, Multiple... ORPHA:400
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... ORPHA:615
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Glycogen Storage Disease Ia
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hep... OMIM:235200
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan sulfate excreti... OMIM:252920
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Reticular pattern on pulmona... ORPHA:99931
Immunodeficiency 32B
Bronchiectasis, Recurrent respiratory infections, Pneumonia, Splenomegaly OMIM:226990
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Sialuria
Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:3166
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Leukop... ORPHA:505248
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Heme Oxygenase 1 Deficiency
Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hematuria, H... OMIM:614034
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Aplasia/Hypoplasia of the lungs, Splenomegaly ORPHA:2204
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Neph... OMIM:130650
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Portal hypertension,... OMIM:616589
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the kidney, Abnormality of the lymph... ORPHA:54251
H Syndrome
Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Microc... ORPHA:168569
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Tetralogy of Fallot, Aplasia/Hypoplasia of the gal... ORPHA:96092
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... OMIM:615512
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Distal Trisomy 5Q
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia, Cryp... ORPHA:96097
Martinez-Frias Syndrome
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... OMIM:601346
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Morm Syndrome
Abnormality of the kidney, Hyperactivity, Micropenis ORPHA:75858
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Alg9-Cdg
Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Atrial septal defect, Hypoplasia of the o... ORPHA:79328
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Nephrocalcinosis, Asplenia OMIM:240300
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology ORPHA:85447
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... OMIM:607361
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... OMIM:618892
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... OMIM:212140
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Recurrent pharyngitis,... ORPHA:108
Nephroblastoma
Nephroblastoma, Neoplasm of the liver, Lymphadenopathy, Hematuria ORPHA:654
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Normochromic anemia, Thro... OMIM:618775
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Hypoplastic tricuspid valve, Atrial septal defect, Anterior pi... ORPHA:2255
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... OMIM:600649
Grfoma
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Pituitary adenoma, Hepatom... ORPHA:97261
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pulmonary inter... OMIM:612387
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Micropenis, Recurrent upper respiratory tract infections, Decreased testicular si... OMIM:300534
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomeg... OMIM:618955
Gaucher Disease Type 2
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:77260
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly OMIM:609981
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Trisomy 8P
Annular pancreas, Peripheral pulmonary artery stenosis, Micropenis, Recurrent upper respiratory t... ORPHA:264450
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlar... ORPHA:251004
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Cardiomegaly OMIM:255120
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Elevated hepatic transaminase ORPHA:79095
Senior-Boichis Syndrome
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... ORPHA:84081
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ... ORPHA:277
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Hematuria, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Renal tubular acidosis, Atrial s... OMIM:610205
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Hepatic failure, Hepatosp... ORPHA:158057
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Hyperactivity, Hyperglycinuria OMIM:239500
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Lymphocytosis, Abnormality of the lymph nodes, Lymphadenitis, Eosinophilia, H... ORPHA:911
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Nephroblastoma, Recurrent lower respiratory tract infections, ... OMIM:253250
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatospleno... OMIM:618935
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Ab... ORPHA:85450
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Membranopro... OMIM:619644
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent upper and lower respiratory tract infections, Recurrent tonsillitis ORPHA:171876
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Biliary atresia, Total absence of the pericard... OMIM:600001
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Pancreatitis, Hepatomegaly, Abnormal myeloid leukocyte morphology, Increased hep... ORPHA:79259
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... OMIM:615630
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Hepa... ORPHA:77293
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Abnormal pulmonary interstitial mor... ORPHA:77259
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia, Recurrent... OMIM:300635
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Ppoma
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Pituitary adenoma, Hepatom... ORPHA:97278
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice ORPHA:99978
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc... OMIM:201475
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Ventricular sep... ORPHA:464738
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent foramen ovale, Pneumonia, Card... OMIM:601005
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Enlarged kidney, Recurrent bronchitis, Mucopolysacchariduria, Recurre... OMIM:252500
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Recurrent ... OMIM:613489
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Abnormal pleura mo... ORPHA:549
Hereditary Hemorrhagic Telangiectasia
Nephrolithiasis, Cholelithiasis, Hepatic failure, Cirrhosis, Hematuria, Cholecystitis, Microcytic... ORPHA:774
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Renal insufficiency, Neutropenia, Anemia, Thrombocytope... ORPHA:79312
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Sclerosing cholangitis, Elevated circulating aspartate aminotransferase ... OMIM:619662
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, H... ORPHA:116
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increased mean platelet ... OMIM:607330
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventric... OMIM:301068
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormality of the liver ORPHA:234
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Endocrine-Cerebroosteodysplasia
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Cryptorchidism, Microphallus OMIM:612651
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... OMIM:216360
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hepatic failure, Cirrhosis, Leukope... ORPHA:480520
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Proteinuria, Ascites, Recurrent respiratory infec... ORPHA:834
Ogden Syndrome
Hydrocele testis, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Jaundice, Car... OMIM:300855
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated hepatic transaminase, Ele... ORPHA:42
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Hypoplastic nipples OMIM:618268
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneu... ORPHA:83469
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... ORPHA:829
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... ORPHA:39041
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Bacterial endocarditis, Aortic valve calcification, Splenomegaly, Hepatosplenomeg... ORPHA:2072
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly, Hemolytic anemia, Pink urine, Thrombocytopenia OMIM:263700
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Abnormality of the p... ORPHA:290
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatomegaly, Splenomegaly, Cirrhosis, Myoglobinuria, Hepatocellular carc... ORPHA:370
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder, Urinary incontinence ORPHA:512
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Renal insuff... ORPHA:91138
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Pulmonary edema, Muscular ventricular ... OMIM:115197
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... ORPHA:276
Felty Syndrome
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Abnormal lymphocyte morphology, T... ORPHA:47612
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Nephroblastoma, Urinary ret... ORPHA:97297
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Pr... OMIM:257200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Acute kidney injury, Proteinuria, Anemi... OMIM:618886
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Sialidosis Type 2
Ascites, Nephropathy, Hepatomegaly, Splenomegaly ORPHA:87876
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-... ORPHA:228308
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Oligosacchariduria, Cardiomegaly ORPHA:3137
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria, Emphysem... ORPHA:36412
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Abnormal pulmonary valve morphology, Hypoparathyroidism, Atria... ORPHA:567
Cardiomyopathy, Familial Hypertrophic 27
Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, Endocardial fibroelastosis... OMIM:618052
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, ... ORPHA:500095
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Castleman Disease
Decreased mean corpuscular volume, Ureteral obstruction, Follicular hyperplasia, Hematuria, Media... ORPHA:160
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Ch... ORPHA:79303
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... ORPHA:465508
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Recurrent urinar... OMIM:613179
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Digeorge Syndrome
Cholelithiasis, Hydrocele testis, Splenomegaly, Unilateral renal agenesis, Ovarian cyst, Hypoplas... OMIM:188400
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegal... OMIM:606003
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly OMIM:252900
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Thrombocytopenia, Renal insufficiency, Lymphadenopathy ORPHA:83313
Q Fever
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis, Hematuria, Myocarditis, Cholecystit... ORPHA:781
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia OMIM:230900
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Neoplasm of the lung, Multiple renal cyst... ORPHA:2869
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Cryptorchidism, Micropenis, Severe B lymphocytopenia, B lymphocytop... ORPHA:83617
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... ORPHA:398124
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Craniofacioskeletal Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Absent gallbladder, Hydronephrosis,... OMIM:300712
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Atrial septal defect, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Hyperecho... OMIM:614576
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly OMIM:614699
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Rena... OMIM:614866
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Pulmonary edema, Cirrhosis, Left ventricular hypertrophy,... ORPHA:57777
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Cryptorchidism, Micropenis, Hypospadias, Ventricular septal defect, Absent ... ORPHA:163979
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney OMIM:613091
Vacterl/Vater Association
Abnormal cardiac septum morphology, Hypoplasia of penis, Cryptorchidism, Renal agenesis, Hypospad... ORPHA:887
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Pulmonary hypopl... OMIM:616897
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hypospadias, Multicystic kidney dysplasia, Abnormality of the... ORPHA:2075
Meckel Syndrome, Type 4
Bile duct proliferation, Ventricular septal defect, Renal cyst, Atrial septal defect OMIM:611134
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... OMIM:613673
Scrub Typhus
Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Macrophage Activation Syndrome
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... ORPHA:158061
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Hypoplasia of p... ORPHA:3097
Autoimmune Hemolytic Anemia
Abnormal urinary color, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hepatoblastoma, Enlarged kidney, Ventricular septal defect, Polysplenia, Duplicatio... OMIM:312870
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Hepatomegaly, Cholecystitis OMIM:301066
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Anemia, Recurrent respira... ORPHA:30
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... ORPHA:79456
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegal... ORPHA:255249
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... ORPHA:905
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... OMIM:618986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... OMIM:304790
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Hemoglobinuria, Anisocytosis, Poikilocytosis, Fava bean... OMIM:300908
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy OMIM:619750