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Gene: Rnf223 MGI:3588193

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Gene Summary

Name:
ring finger 223
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal retina morphology Rnf223em1(IMPC)Ccpcz HOM   Early adult 4.60×10-06
enlarged thymus Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00
single kidney Rnf223em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

16 Images

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XRay Images Skull Dorso Ventral Orientation

16 Images

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XRay Images Whole Body Lateral Orientation

16 Images

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XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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XRay Images Whole Body Dorso Ventral

32 Images

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Human diseases caused by Rnf223 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 Rnf223 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
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
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Bi... OMIM:618845
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Ethanolaminosis
Cardiomegaly OMIM:227150
Kerion Celsi
Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:100024
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi... OMIM:216360
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym... ORPHA:97290
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Hyperechogenic kidneys, Cholestas... OMIM:614576
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Congenital Toxoplasmosis
Ascites, Abnormality of retinal pigmentation, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thromb... ORPHA:858
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:617661
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym... ORPHA:319487
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect OMIM:601355
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Unilateral renal agenesis, Anemia of inadequate production, Bicuspid... OMIM:614900
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Cryptorchidism, Ventricular septal defect OMIM:618504
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Renal insufficiency, Cryptorchidism, Testicular seminoma ORPHA:281090
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... OMIM:603552
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Atrial septal ... OMIM:618142
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal... OMIM:619902
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Cryptorchidism, Patent fo... OMIM:618494
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:602271
Sandhoff Disease
Hepatomegaly, Splenomegaly, Cherry red spot of the macula ORPHA:796
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Cherry red spot of the... OMIM:256550
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice OMIM:620010
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome OMIM:269920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... OMIM:300853
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Unilateral renal agenesis, Cryptorchidism, Ventricular septal defect ORPHA:3306
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:608572
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Niemann-Pick Disease, Type B
Abnormal macular morphology, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia... OMIM:607616
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a... OMIM:618495
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Nephroblastoma, Ventricular septal ... OMIM:610832
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Vitreous floaters, Cardiomegaly, Abnormal renal physiology ORPHA:85447
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormal heart m... ORPHA:363444
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Retinopathy, Thrombocytopenia, Hepatomegaly, Mediastinal ly... ORPHA:158029
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Vesicoureteral refl... ORPHA:2237
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Cryptorchidism, Decreased response to growth hormone s... OMIM:609757
Holzgreve Syndrome
Hypoplastic left heart, Renal hypoplasia, Renal agenesis OMIM:236110
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy... OMIM:618886
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infec... OMIM:609029
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections, Ventricular sept... OMIM:613680
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia OMIM:613313
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Cone/cone-rod dystrophy OMIM:614979
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Secundum atrial septal defect, Leukemia, Supernumerary nipple, Vesicou... OMIM:619951
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:244200
Heme Oxygenase 1 Deficiency
Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Coombs-positive hemolytic anemia, Ly... OMIM:614034
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c... OMIM:620454
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri... OMIM:616589
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morphology, Reduced number of i... ORPHA:79284
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Thr... ORPHA:79312
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Joubert Syndrome 33
Splenomegaly, Cone/cone-rod dystrophy OMIM:617767
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an... OMIM:603909
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Cardiomyopathy, Rena... ORPHA:90324
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... OMIM:620511
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Vesicoureteral reflux, Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Ventricular hypertrophy, Retinal coloboma, Lymphopen... OMIM:620654
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen... ORPHA:3226
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Optic atrophy, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Abnor... OMIM:616737
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Ventricular s... ORPHA:96170
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Roifman Syndrome
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa... OMIM:616651
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Lymphadenopathy, Anemia OMIM:607115
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat... OMIM:137920
Sialidosis Type 2
Nephropathy, Abnormal macular morphology, Ascites, Splenomegaly, Hepatomegaly ORPHA:87876
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Lymphopenia, Cryptorchidism,... OMIM:616541
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat... ORPHA:1414
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr... OMIM:113650
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Decrease... ORPHA:85450
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepatomegaly OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis, Cryptorchidism, Testicular atrophy OMIM:308750
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Lymph... ORPHA:457077
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Hepatomegaly, Lymphadenop... OMIM:619644
Nephroblastoma
Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma ORPHA:654
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Splenomegaly, Ventricula... OMIM:615630
Leishmaniasis
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly, Lymphadenop... ORPHA:507
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Castleman Disease
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He... ORPHA:160
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Testicular atrophy,... OMIM:235200
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:69077
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Atrial septal d... ORPHA:3109
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def... OMIM:620210
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Scrub Typhus
Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Cryptorchidism, Ventricular septal... ORPHA:464311
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Total anomalous pulmonary venous return, Optic atrophy, Abnormal heart... ORPHA:487796
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Desmoplastic Small Round Cell Tumor
Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem... ORPHA:83469
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Optic disc ... OMIM:611490
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:616719
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur... ORPHA:36412
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Retinal dystrophy ORPHA:353298
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Cherry red spot of the macula, Splenomegaly, ... OMIM:257200
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:549
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Decreased testicular size, Cryptorchidism, Micropenis, Testicular atrophy OMIM:308700
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Shashi-Pena Syndrome
Unilateral renal agenesis, Atrial septal defect OMIM:617190
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Babesiosis
Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti... ORPHA:108
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosine level, Lymp... OMIM:613179
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Pigmentary retinopathy, Retinal arteriolar constrict... ORPHA:191
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Elev... OMIM:618419
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... ORPHA:39041
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Congenital Rubella Syndrome
Splenomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Hepatomegaly, Atria... ORPHA:290
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Fetal Cytomegalovirus Syndrome
Optic atrophy, Hepatitis, Retinal hemorrhage, Splenomegaly, Chorioretinitis, Hepatomegaly, Thromb... ORPHA:294
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly ORPHA:99931
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulati... ORPHA:97289
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Immunodeficiency, Common Variable, 7
Splenomegaly, Recurrent urinary tract infections OMIM:614699
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Unilateral renal agenesis, Renal agenesis OMIM:619227
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Mulibrey Nanism
Pigmentary retinopathy, Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatome... OMIM:253250
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly OMIM:300635
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Immunodeficiency 10
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphocyt... OMIM:612783
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral rena... OMIM:620305
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Refsum Disease, Classic
Cardiomyopathy, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy, Abnormal renal physiology OMIM:266500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Breast hypoplasia, Cryptorchidism,... ORPHA:464306
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia OMIM:620514
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Retin... ORPHA:2969
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Klatskin Tumor
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Cinca Syndrome
Pseudopapilledema, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality... ORPHA:1451
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Aggressive Systemic Mastocytosis
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... ORPHA:98850
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnormal retina... ORPHA:33276
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat... ORPHA:3392
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Renal ins... OMIM:188400
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Ebstein anomaly of the tricuspid valve, Renal agenesis OMIM:608980
Felty Syndrome
Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ... ORPHA:47612
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, Hepatomegaly, My... ORPHA:829
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome ORPHA:834
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Anemia, Micropenis OMIM:614083
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Reduced natural killer cell count, Recurrent urinary tract infections,... ORPHA:221139
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Gaucher Disease, Type I
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,... OMIM:230800
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting sys... OMIM:270400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatocellular carcinoma, Hepatosplenomegaly... ORPHA:158057
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color ORPHA:90037
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, At... OMIM:620024
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto... OMIM:616084
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Unilateral renal agenesis, Abnormal optic chiasm morphology, Dilatation of... ORPHA:268261
Sandhoff Disease
Cherry red spot of the macula, Increased urinary N-acetylglucosamine-rich oligosaccharide level, ... OMIM:268800
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Leopard Syndrome 1
Unilateral renal agenesis, Hypertrophic cardiomyopathy, Cryptorchidism, Aplasia of the ovary, Mit... OMIM:151100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased carnitine level in ... OMIM:212140
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Vesicourete... OMIM:615895
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Cryptorchidism, Ventricular septal... ORPHA:96121
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Farber Lipogranulomatosis
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Lipogranulomatosis OMIM:228000
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Muckle-Wells Syndrome
Nephropathy, Optic atrophy, Renal amyloidosis, Splenomegaly, Hepatomegaly, Anemia, Nephrotic synd... ORPHA:575
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ... ORPHA:1332
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Ascites, Lymphop... ORPHA:93552
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Retinal degen... ORPHA:391428
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion OMIM:614702
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu... OMIM:304790
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Hydronephrosis, Abnormal cardiac septum morphology, Single ventricle, ... OMIM:308050
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadenopathy, Myocarditis, Tubulo... ORPHA:139402
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Attenuation of retinal blood vessels, Leukocytosis,... OMIM:610377
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Optic atrophy, Cryptorchidism, Decreased growth hormone responses to g... OMIM:101800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... ORPHA:468631
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... ORPHA:79456
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Splenomegaly, Rod-cone dystrophy, Hepatomegaly, Asymmetric se... OMIM:252930
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Pentalogy Of Cantrell
Renal agenesis, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbla... ORPHA:1335
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Splenomegaly, Optic neuritis, Lymphadenopathy, Neutropenia in presen... ORPHA:436159
Refsum Disease
Cardiomyopathy, Renal insufficiency, Abnormality of retinal pigmentation, Retinopathy, Splenomegaly ORPHA:773
Mixed Connective Tissue Disease
Nephropathy, Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomega... ORPHA:809
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Chorioretinal hypopig... OMIM:617303
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... OMIM:606003
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Bilateral renal hypoplasia, Retinal colob... ORPHA:508488
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Supernumerary nipple, Decreased response to growth hormone stimulation... OMIM:213980
Q Fever
Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liver, Splenom... ORPHA:781
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... ORPHA:231222
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L... ORPHA:514
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ... ORPHA:398124
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Hypopl... ORPHA:99812
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Lipemia retinalis OMIM:207750
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy OMIM:252900
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Proteinuria, Abnorma... ORPHA:2035
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutrop... ORPHA:540
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Urinary retention, Absence of lymph node germinal center,... ORPHA:79124
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Chediak-Higashi Syndrome
Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomeg... OMIM:214500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormality of the uri... ORPHA:95699
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormality of the urinary system, Cherry red spot of the macula, Hypertr... OMIM:230500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Waldenström Macroglobulinemia
Normocytic anemia, Renal insufficiency, Splenomegaly, Retinal hemorrhage, Hepatomegaly, Abnormal ... ORPHA:33226
Lymphangioleiomyomatosis
Optic atrophy, Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of th... ORPHA:538
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly... ORPHA:2686
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja... ORPHA:90033
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly OMIM:235555
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,... OMIM:201475
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Cholang... ORPHA:465508
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Zttk Syndrome
Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, Absent gallbladder, Ventricular septa... OMIM:617140
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Optic disc coloboma, Cryptorchidism, Ventricular septal defect, Tricus... ORPHA:261337
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Breast aplasia, Pyelonephritis, Renal insufficiency,... OMIM:181270
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Multiple Sulfatase Deficiency
Optic atrophy, Splenomegaly, Abnormality of retinal pigmentation, Mucopolysacchariduria, Hepatome... ORPHA:585
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatic steatosis, Cardiomegaly, H... ORPHA:42
T-Cell Lymphoma, Subcutaneous Panniculitis-Like