Gene Summary

Name:
ribonuclease, RNase A family, 12 (non-active)
Synonyms:
N/A

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 Rnase12em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Rnase12em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Rnase12em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Rnase12em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Rnase12em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Rnase12em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

Human diseases caused by Rnase12 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 Rnase12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ethanolaminosis
Cardiomegaly OMIM:227150
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Kerion Celsi
Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Burkitt Lymphoma
Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic fibrosis OMIM:613313
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy OMIM:602390
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega... OMIM:256550
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Splenomegaly, Cardiom... OMIM:235200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Joubert Syndrome 33
Splenomegaly OMIM:617767
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu... OMIM:616651
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventricular septal defect OMIM:616589
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Ectopia of the ... OMIM:613751
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect OMIM:620210
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Scrub Typhus
Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyopathy, Abdom... ORPHA:160
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... OMIM:212140
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, ... ORPHA:549
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular... ORPHA:290
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe... ORPHA:829
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Mulibrey Nanism
Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Hepato... OMIM:606003
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen... OMIM:619644
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial effusion, Sp... ORPHA:36412
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,... ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy OMIM:614702
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonic stenosis, Histiocytosis, Hepatospl... OMIM:602782
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Cardiomyopathy, ... OMIM:615895
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E... OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Boutonneuse Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal heart valve morphology, Pericarditis... ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Papa Syndrome
Lymphadenopathy ORPHA:69126
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Portal hypertension, Splenomeg... ORPHA:465508
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia... ORPHA:809
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal... ORPHA:79124
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome... OMIM:201475
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Tangier Disease
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy OMIM:205400
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver ORPHA:91138
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie... ORPHA:1333
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thr... ORPHA:540
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil... ORPHA:31150
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis OMIM:618641
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100080
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le... ORPHA:57777
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph... ORPHA:514
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Hepatic steatosis ORPHA:42
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly... OMIM:300755
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis ORPHA:99812
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Mcleod Syndrome
Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Acanthocytosis OMIM:300842
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Eosinophilia, Hepatitis ORPHA:139402
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85450
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... ORPHA:77259
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia... ORPHA:1572
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno... ORPHA:2905
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... ORPHA:50918
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ... ORPHA:98813
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi... OMIM:620233
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid... OMIM:306400
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin... ORPHA:97289
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Ascites, Hypertrophic cardiomyopathy OMIM:616897
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100082
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Ascites, Pericardial effusion, Thrombocytopenia, Leukopenia, Microa... ORPHA:93552
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Hepatic steatosis OMIM:255120
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr... OMIM:615688
Fucosidosis
Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:97287
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he... OMIM:614921
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia ORPHA:33226
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Splenomeg... OMIM:616084
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy ORPHA:100093
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly ORPHA:39812
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Gaucher Disease Type 3
Hepatomegaly, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcification, ... ORPHA:77261
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myocardium morph... ORPHA:32960
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Congenital Syphilis
Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomega... ORPHA:499009
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi... ORPHA:100085
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Carney Triad
Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia ORPHA:139411
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Leuk... OMIM:620376
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl... ORPHA:565612
Farber Disease
Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome... ORPHA:333
Fucosidosis
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:230000
Chédiak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor... ORPHA:167
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Ventricular septal defect, ... ORPHA:84064
Isolated Biliary Atresia