Gene Summary

neuralized E3 ubiquitin protein ligase 4

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 skin morphology Neurl4em1(IMPC)Mbp HOM Late adult 0.00
increased grip strength Neurl4em1(IMPC)Mbp HOM Late adult 2.15×10-06
absent seminal vesicle Neurl4em1(IMPC)Mbp HOM Late adult 0.00
decreased prepulse inhibition Neurl4em1(IMPC)Mbp HOM   Early adult 1.42×10-06
decreased total body fat amount Neurl4em1(IMPC)Mbp HOM   Early adult 1.88×10-06
preweaning lethality, incomplete penetrance Neurl4em1(IMPC)Mbp HOM   Early adult 0.00
abnormal liver morphology Neurl4em1(IMPC)Mbp HOM Early adult 0.00
small spleen Neurl4em1(IMPC)Mbp HOM Late adult 0.00
increased lean body mass Neurl4em1(IMPC)Mbp HOM   Early adult 1.68×10-06
enlarged gallbladder Neurl4em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Neurl4em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Neurl4em1(IMPC)Mbp HOM Late adult 0.00
abnormal gallbladder morphology Neurl4em1(IMPC)Mbp HOM Late adult 0.00
decreased leukocyte cell number Neurl4em1(IMPC)Mbp HOM Late adult 2.43×10-05
small kidney Neurl4em1(IMPC)Mbp HOM Late adult 0.00
decreased heart weight Neurl4em1(IMPC)Mbp HOM Late adult 2.55×10-05
decreased neutrophil cell number Neurl4em1(IMPC)Mbp HOM   Early adult 5.23×10-05
eye hemorrhage Neurl4em1(IMPC)Mbp HOM Late adult 6.06×10-06
enlarged spleen Neurl4em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Neurl4em1(IMPC)Mbp HOM Late 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.


XRay Images Whole Body Dorso Ventral

54 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

18 Images


XRay Images Whole Body Dorso Ventral

32 Images

Human diseases caused by Neurl4 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 Neurl4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... ORPHA:848
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Kaposiform Lymphangiomatosis
Lymphangioma, Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormal spleen morpholog... ORPHA:464329
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... OMIM:603903
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Jaundice, Intrahepatic cholesta... OMIM:211600
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia OMIM:300752
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:613501
Cholelithiasis, Decreased liver function, Green urine, Cholestasis OMIM:614156
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... OMIM:194380
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Neutrophilia, Hepatomegaly, Subdural hemorrhage, Hemothorax, Hepatic fail... ORPHA:99827
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Anemia, Neutropenia, Splenomegaly OMIM:602079
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Abnormal bleeding, Cirrhosis, Biliary tract abnormality, Elevated hep... ORPHA:79301
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Exerc... OMIM:232800
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... OMIM:614470
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:603552
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Microcytic anemia, Decreased liver function ORPHA:79278
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
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
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Telangiectasia of the skin, Hepatic failure, Subarachnoid hemorrhage, Hematuria, ... ORPHA:774
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Anemia, Thrombocytopenia ORPHA:231393
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... OMIM:613313
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial s... ORPHA:210122
Isolated Biliary Atresia
Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cir... ORPHA:30391
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Epistaxis ORPHA:721
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Atrial flutter, Atrial fibrillation, Hypogonadism, First degr... OMIM:160900
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Neutropenia, Anemia OMIM:604250
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm... OMIM:611881
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria,... OMIM:105200
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Immunodeficiency 46
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Prolonged prothr... ORPHA:3166
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Lujo Hemorrhagic Fever
Lymphopenia, Excessive bleeding after a venipuncture, Leukocytosis, Leukopenia, Fulminant hepatit... ORPHA:319213
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... OMIM:615512
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Mirizzi Syndrome
Dark urine, Cholelithiasis, Pancreatitis, Jaundice, Tachycardia, Elevated hepatic transaminase, C... ORPHA:521219
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Ventricular septal defect, Pericardial effusion, Bradycardia, H... OMIM:618775
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Hematochezia, Elevated hepatic t... ORPHA:79095
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Bicornuate uterus, Unilateral renal age... OMIM:156810
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... ORPHA:171
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiom... OMIM:602390
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Pal... ORPHA:340
Marburg Hemorrhagic Fever
Pancreatitis, Pericarditis, Reticulocytosis, Jaundice, Lymphadenopathy, Abnormal bleeding, Tachyc... ORPHA:99826
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Splenomegaly ORPHA:796
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Nephritis, Neutropenia OMIM:180080
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Cholelithiasis, Double outlet right ventricle, Atrial septal defect, H... OMIM:614886
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Abnormality of the liver, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertro... ORPHA:464321
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... OMIM:612840
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Myocardial infarction,... ORPHA:108
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Male hypogonadism, Female hypogonad... OMIM:240300
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Portal Hypertension, Noncirrhotic, 2
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... OMIM:619463
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Hypospadias, Tetralogy of Fallot, Ventricu... ORPHA:1335
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... OMIM:618986
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Meckel Syndrome, Type 6
Hepatic cysts, Renal cyst, Absent gallbladder, Hepatic fibrosis, Horseshoe kidney, Abnormal inter... OMIM:612284
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Arrhythmia, Recurrent tonsillitis ORPHA:171876
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Multicystic kidney dysplasia, Abn... ORPHA:3032
Martinez-Frias Syndrome
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... OMIM:601346
Distal Trisomy 5Q
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect, Cryp... ORPHA:96097
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... ORPHA:98850
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... OMIM:314050
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Amelogenesis imperfecta, Absent neutrop... OMIM:617475
Hepatomegaly, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Hypotension,... ORPHA:509
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Abnormal bleeding, Hepatic failu... ORPHA:398124
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Pelger-Huet Anomaly
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... OMIM:169400
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Jaundice ORPHA:79477
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Jaundice, Abnormal bleed... ORPHA:480520
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Micropenis, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Dextr... ORPHA:96092
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Meckel Syndrome, Type 7
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Cholelithiasis, Neoplasm of the pancreas, Abnormal abdomen morphology, Pituitary adenoma, Hepatom... ORPHA:97278
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly, Co... OMIM:269920
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut... OMIM:603909
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites ORPHA:1046
Cholelithiasis, Neoplasm of the pancreas, Abnormal abdomen morphology, Pituitary adenoma, Hepatom... ORPHA:97261
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Mirage Syndrome
Petechiae, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, Leukopenia, ... OMIM:617053
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated circulating aspa... ORPHA:158061
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibro... OMIM:616589
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hepatomegaly, Neutropenia OMIM:251900
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... ORPHA:3226
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormal bleed... ORPHA:824
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Immunodeficiency By Defective Expression Of Mhc Class Ii
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Chronic hepatitis due to... ORPHA:572
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Mediastinal lym... ORPHA:158029
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia ORPHA:2643
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni... OMIM:601186
Gaucher Disease Type 1
Hepatomegaly, Bruising susceptibility, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Biliary tr... ORPHA:77259
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, A... OMIM:301078
Hepatomegaly, Splenomegaly, Abnormal bleeding, Leukopenia, Abnormal macrophage morphology, Thromb... ORPHA:507
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Cryptorchidism, Decreased testicular size, Micropenis OMIM:300534
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Cellulitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... ORPHA:486
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy ORPHA:37748
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Whim Syndrome 1
Neutropenia OMIM:193670
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Ecchymosis, Neutropenia, Bone marrow hypocel... ORPHA:88
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Gaucher Disease Type 2
Cardiac arrest, Hepatomegaly, Splenomegaly ORPHA:77260
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... OMIM:618892
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
X-Linked Agammaglobulinemia
Failure to thrive, Cellulitis, Anemia, Hepatitis, Neutropenia, Weight loss, Thrombocytopenia, Rec... ORPHA:47
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Ambiguous genitalia, male, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosi... OMIM:607330
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia OMIM:251190
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmona... ORPHA:2414
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Abno... ORPHA:77293
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Hypogonadism OMIM:619273
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly, Hemolytic anemia, Pink urine, Thrombocytopenia OMIM:263700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Bacterial endocarditis, Aortic valve calcification, Splenomegaly, Hepatosplenomeg... ORPHA:2072
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... OMIM:304790
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Hypoplastic nipples OMIM:618268
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Leukopenia, Neutropenia, Thrombocytopenia OMIM:251000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Felty Syndrome
Hepatomegaly, Cellulitis, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia,... ORPHA:47612
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Cryptorchidism, Micropenis, Hypospadias, Intracranial hemorrhage, Heart mur... ORPHA:163979
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Autosomal Agammaglobulinemia
Failure to thrive, Hepatitis, Cellulitis, Neutropenia ORPHA:33110
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Cryoglobulinemic Vasculitis
Petechiae, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, V... ORPHA:91138
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis... ORPHA:292
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Hypoplastic spleen ORPHA:89844
Propionic Acidemia
Failure to thrive, Pancreatitis, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:606054
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Bruising susceptibility, Splenomegaly, Prolonged bleeding after dental extraction, Men... OMIM:153670
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Transaldolase Deficiency
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... OMIM:606003
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Acute hepa... ORPHA:1667
Fish-Eye Disease
Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormality of neu... ORPHA:33226
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... OMIM:613673
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Ventricular sep... ORPHA:464738
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly OMIM:613490
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Trisomy 8P
Annular pancreas, Micropenis, Tetralogy of Fallot, Heart murmur, Aplasia/Hypoplasia of the gallbl... ORPHA:264450
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Abnormality of the tonsils, Ventricular septal defect, Gastroi... ORPHA:567
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia OMIM:209920
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Disorder Of Bile Acid Synthesis
Abnormal bleeding, Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Abnorma... ORPHA:79168
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Inguinal hernia, Neutropenia, Thrombocytopenia, Normochromic anemia OMIM:614857
Autoimmune Hemolytic Anemia
Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly, Arrhythmia, Hemolytic anemia... ORPHA:98375
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Hypoplastic tricuspid valve, Atrial septal defect, Biliary atr... ORPHA:2255
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... OMIM:607361
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Umbilical hernia, Neutropenia, Anemia, Thrombocytop... OMIM:614520
Gaucher Disease, Type I
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... OMIM:230800
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly... ORPHA:540
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder, Urinary incontinence ORPHA:512
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Cyclic Neutropenia
Lymphopenia, Cellulitis, Peritonitis, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thromb... ORPHA:2686
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Macrocytic anemia, Pancytopeni... ORPHA:2169
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice ORPHA:464370
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangit... OMIM:308230
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Sclerosing cholangitis, Elevated circulating aspartate aminotransferase ... OMIM:619662
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Pancytopenia, Thr... ORPHA:85212
Shwachman-Diamond Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Small for gestational age, Pe... OMIM:260400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Gracile Bone Dysplasia
Ascites, Hypoplastic spleen, Asplenia, Micropenis OMIM:602361
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... OMIM:615630
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Hepatic fibrosis, Neutropenia, Thro... OMIM:613989
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatospleno... OMIM:618935
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization OMIM:193235
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatomegaly, Splenomegaly, Cirrhosis, Myoglobinuria, Hepatocellular carc... ORPHA:370
Ornithine Transcarbamylase Deficiency
Hepatic failure, Aminoaciduria, Splenomegaly ORPHA:664
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Menorrhagia, Abnormal number of alpha g... OMIM:139090
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Ja... ORPHA:731
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... ORPHA:829
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... OMIM:216360
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Bladder exstrophy, Cholestasis, Ventricular septal defect, Prolong... OMIM:301068
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Precocious puberty, Hepatomegaly, Hepatosplenomegaly, Cholecystitis OMIM:301066
Cerebrotendinous Xanthomatosis
Cholelithiasis, Angina pectoris, Myocardial infarction OMIM:213700
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Sideroblas... OMIM:557000
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Abnormal mean cor... ORPHA:86839
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Micronodular cirrhosis, Vasculitis in the skin, Raynaud phenomenon, Hematuria, Retinal hemorrhage... OMIM:192315
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 32B
Splenomegaly OMIM:226990
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Anemia, Thrombocytop... ORPHA:290
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Hemoglobinuria, Anisocytosis, Poikilocytosis, Fava bean... OMIM:300908
Wilson Disease
Hepatomegaly, Acute hepatitis, Bruising susceptibility, Splenomegaly, Acute hepatic failure, Cirr... ORPHA:905
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Biliary atresia, Pulmonic stenosis, Total abse... OMIM:600001
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Diffuse alveolar hemorrhage, Pancytopenia, Anemia, Thrombocytopenia, Reduced natura... OMIM:616050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Cryptorchidism, Micropenis, Severe B lymphocytopenia, B lymphocytop... ORPHA:83617
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Bruising suscepti... ORPHA:729
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolyt... ORPHA:90033
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Splenomegaly, Tachycardia, Autoimmune hemolytic anemia, Congestive heart ... ORPHA:90037
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatomegaly, Inguinal hernia, Splenomegaly, Hypoplasia of the th... OMIM:612541
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Juvenile Xanthogranuloma
Myeloproliferative disorder, Hyphema ORPHA:158000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Clit... OMIM:614866
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Hepatomegaly, Splenomegaly, Epistaxis, Arrhythmia, Gastrointestinal hemorrhage, Cardiac arrest ORPHA:99745
Craniofacioskeletal Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Absent gallbladder, Hydronephrosis,... OMIM:300712
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Arrhythmia, Hematuria, Myocarditis, Hypotension, Endocar... ORPHA:549
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphrodi... ORPHA:2075
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Cohen Syndrome
Leukopenia, Small for gestational age, Childhood-onset truncal obesity, Neutropenia OMIM:216550
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Glycosuria, Proteinuria, Hypopl... ORPHA:699
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Ch... ORPHA:79303
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Atrial septal defect, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Abnormal ... OMIM:614576
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Failure to thrive, Exocrine pancreatic insufficiency, Neutrope... ORPHA:811
Nephronophthisis 13
Global glomerulosclerosis, Nephronophthisis, Intrahepatic bile duct dilatation, Hepatic cysts, Mi... OMIM:614377
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic h... ORPHA:465508
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Hematochezia, Elevated hepa... OMIM:615895
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613489
Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... ORPHA:443811
Barth Syndrome
Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropenia OMIM:302060
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Transcobalamin Ii Deficiency
Failure to thrive, Macrocytic anemia, Pancytopenia, Neutropenia, Reticulocytopenia OMIM:275350
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Cervix cancer, Abno... ORPHA:2869
Primary Lipodystrophy
Angina pectoris, Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hypertension, Hepatic... ORPHA:90970
Digeorge Syndrome
Cholelithiasis, Hydrocele testis, Splenomegaly, Unilateral renal agenesis, Ovarian cyst, Hypoplas... OMIM:188400
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Urinary retention, Cardiome... ORPHA:97297
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... OMIM:257200
Lymphopenia, Cellulitis, Peritonitis, Abnormality of the spleen, Brain abscess, Fasciitis, Neutro... ORPHA:228119
Vitreous hemorrhage, Subretinal pigment epithelium hemorrhage, Leukemia, Pineoblastoma, Hyphema ORPHA:790
Eales Disease
Vitreous hemorrhage, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic s... ORPHA:40923
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Flexion contracture, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Ne... OMIM:617303
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Neutropenia OMIM:608809
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Infection associated neutropenia, Hepatic steatosis, Neutropenia ORPHA:445038
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Peritonitis, Neutropenia, Thrombocytopenia ORPHA:391673
Essential Thrombocythemia
Splenomegaly, Myocardial infarction, Abnormal platelet morphology, Transient ischemic attack, Acu... ORPHA:3318
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, P... ORPHA:158048
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Nephropathy, Myocarditis, He... ORPHA:809
Omenn Syndrome
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... ORPHA:39041
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Lymphopenia, Pancreatitis, Small for gestational age, Abnormal proportion of n... ORPHA:1830
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Proteinuria, Ascites ORPHA:834
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Q Fever
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis,... ORPHA:781
Sepsis In Premature Infants
Decreased liver function, Decreased body weight, Hepatomegaly, Leukocytosis, Splenomegaly, Small ... ORPHA:90051
Shwachman-Diamond Syndrome 2
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Norm... OMIM:617941
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Lymphadenopathy, Cardiomyopathy, Congestive ... ORPHA:3386
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Abnormality of the pancreas, Elevated hepatic transaminase, Weight l... ORPHA:54251
Abnormal cardiac septum morphology, Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality o... ORPHA:3376
Prolidase Deficiency
Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomegaly, Elevated circulating aspartate ami... OMIM:170100
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Senior-Boichis Syndrome
Chronic kidney disease, Reduced renal corticomedullary differentiation, Anemia, Cirrhosis, Hepato... ORPHA:84081
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, High-output congestive heart failure, Sple... ORPHA:231226
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Myocardial infarction, Splenomegaly OMIM:205400
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Trichothiodystrophy 3, Photosensitive