Gene Summary

Eph receptor B1
Cek6,  Net,  Elkh,  Elk,  Hek6,  C130099E04Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
small spleen Ephb1em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Ephb1em1(IMPC)Mbp HOM Early adult 0.00
abnormal urinary bladder morphology Ephb1em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Ephb1em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Ephb1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Ephb1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Ephb1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Ephb1em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

48 Images


XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Ephb1 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 Ephb1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular ... OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Cardiomegaly OMIM:227150
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure OMIM:617542
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, Hypoplasia of the corpus callos... OMIM:600638
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma... OMIM:615415
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... ORPHA:85445
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... OMIM:263200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Pachygyria, Abnormality of the anterior commissure ORPHA:572013
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria OMIM:602079
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Lissencephaly 9 With Complex Brainstem Malformation
Lissencephaly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Hypoplastic anterior ... OMIM:618325
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... ORPHA:464329
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary microcephaly, Simplified gyr... ORPHA:300570
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Nephrotic syndrome, Enlarged kidney, Nephritis, Atrial... OMIM:617303
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... OMIM:306955
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Meacham Syndrome
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Enlarged kidney, ... OMIM:608978
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:620010
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Focal segmental glomerulosclerosis, Panc... OMIM:232220
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Dextrocardia, Transposition of ... OMIM:314390
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Tyrosinemia, Type I
Cirrhosis, Anemia, Enlarged kidney, Ascites, Hepatocellular carcinoma, Glomerular sclerosis, Hype... OMIM:276700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the ureter, Hypospadias, As... ORPHA:1046
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Attrv30M Amyloidosis
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy ORPHA:85447
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Neuraminidase Deficiency
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... OMIM:256550
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hemat... OMIM:603903
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... OMIM:200995
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hydronephrosis, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarbo... OMIM:608836
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... OMIM:618280
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:613313
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Adams-Oliver Syndrome 6
Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Renal hypoplasia, Portal hyperte... OMIM:616589
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... ORPHA:731
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal... ORPHA:615
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased urinary porphobilinogen, Splenomegaly, Elevated urinary delta-a... OMIM:121300
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... OMIM:252920
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe k... OMIM:608022
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Recurrent urinary tra... OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... OMIM:618892
Glycogen Storage Disease Ia
Enlarged kidney, Hepatocellular carcinoma, Decreased glomerular filtration rate, Hepatomegaly, Pr... OMIM:232200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Patent foramen ovale, Nephrotic syndrome, Enlarged kidney, Atrial septal defe... ORPHA:505248
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... ORPHA:79301
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Renal malrotation, Hypoplastic left atrium, Multil... OMIM:601186
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia... OMIM:130650
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Hemochromatosis, Type 2A
Cirrhosis, Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:602390
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Follicular Lymphoma
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy ORPHA:545
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Acute kidney injury, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly ORPHA:172
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Macroscopic... ORPHA:251004
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly OMIM:619658
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Splenomegaly, Hepatomegaly ORPHA:2204
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615010
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Nephronophthisis 13
Pancreatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Intrahepatic bile ... OMIM:614377
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Biventricular hypertrophy, Hypertrophic cardiomyopathy, In... OMIM:261740
H Syndrome
Enlarged kidney, Abnormality of the kidney, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis, M... ORPHA:168569
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Renal insufficiency, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomeg... ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Sclerosing cholangitis, Pericarditis, Renal interstitial immunoglobu... ORPHA:449395
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly OMIM:214900
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly, Cardiomyo... OMIM:235200
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Atrial septal defect ORPHA:89844
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:600649
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Splenomegaly OMIM:619868
Lymphoid Interstitial Pneumonia
Enlarged kidney, Mediastinal lymphadenopathy, Hepatomegaly ORPHA:79128
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Abnormality of the lymphatic system ORPHA:276280
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... OMIM:616278
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis OMIM:616719
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly OMIM:261750
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Splenic cyst, Unilateral renal agenesis OMIM:618188
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Microvesicular hepatic steatosis, Dicarboxylic aciduria, Decreased carnitine leve... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Cholestatic liver disease, Prolonged neonatal jaundi... OMIM:616828
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, A... ORPHA:848
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Cholesteryl Ester Storage Disease
Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly ORPHA:75234
Hypoplasia of the bladder, Periportal fibrosis, Ventricular septal defect, Pericardial effusion, ... ORPHA:79328
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... OMIM:617394
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... OMIM:194080
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphad... OMIM:618495
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Leukopenia, Renal insufficiency, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Sple... ORPHA:108
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Mulibrey Nanism
Nephroblastoma, Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites OMIM:253250
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly OMIM:300635
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... OMIM:235700
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:612526
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis ORPHA:2414
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Polycythemia, Hepa... ORPHA:116
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventricular septal defect, Cholestasis, Hepatomegaly, Nephronophthisis, Splenom... OMIM:615630
Joubert Syndrome 33
Splenomegaly OMIM:617767
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ascites, Micropenis OMIM:602361
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Dicarboxylic aciduria, Hepatic steatosis, Hepatomegaly, Cardiomegaly OMIM:255120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocellular carc... ORPHA:79259
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... OMIM:619463
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Abnormal right v... ORPHA:500095
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, ... OMIM:252500
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... OMIM:615122
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertroph... ORPHA:85451
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobinuria, Dicarboxylic acidur... OMIM:201475
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphobl... ORPHA:158057
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Elliptocytosis 1
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... OMIM:603909
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... OMIM:615234
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Immunodeficiency, Common Variable, 7
Splenomegaly, Recurrent urinary tract infections OMIM:614699
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Cryoglobulinemic Vasculitis
Glomerulopathy, Abnormality of the liver, Hematuria, Viral hepatitis, Mediastinal lymphadenopathy... ORPHA:91138
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia ORPHA:98375
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Cardiomyopathy, Familial Hypertrophic, 4
Myofiber disarray, Ventricular hypertrophy, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... OMIM:266200
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia OMIM:613091
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Adams-Oliver Syndrome 5
Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Right ventricular... OMIM:616028
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly ORPHA:79477
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiomegaly, Right atrial enlargement OMIM:614473
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Hematuria, Pancytopenia, Bili... ORPHA:77259
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... OMIM:300908
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Hereditary Orotic Aciduria
Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splen... ORPHA:30
Coach Syndrome 1
Hepatic fibrosis, Cirrhosis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease... OMIM:216360
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Nephrotic syndrome, Lymphopenia, Hepatosplenomegaly, Acute pancr... OMIM:618935
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly OMIM:618541
Immunodeficiency 54
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:609981
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatic steatosis, Hepatomegaly, C... ORPHA:42
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect OMIM:618652
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus OMIM:612651
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... OMIM:612714
Refsum Disease, Classic
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Ogden Syndrome
Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Perimembranous... OMIM:300855
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly ORPHA:391
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... ORPHA:398124
Transaldolase Deficiency
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Pancytopeni... OMIM:606003
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Legionnaires Disease
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditis, Lymphadeno... ORPHA:549
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... ORPHA:3226
Adult-Onset Still Disease
Hepatitis, Neutrophilia, Generalized lymphadenopathy, Pericarditis, Bone marrow hypocellularity, ... ORPHA:829
Wolman Disease
Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Pericardial effusion, Hematuria, Abnormal heart valve morphology, Lymphadenopathy... ORPHA:36412
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Microcephaly, Hypoplasia of the corpus callosum OMIM:616975
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... ORPHA:824
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Ventricular septal defect, Pulmonic stenosis, Mi... OMIM:602782
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine OMIM:252900
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Increased HbA2 hemoglo... ORPHA:231222
Splenomegaly, Myeloproliferative disorder OMIM:254450
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Cholangiocarcinoma, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Portal hyper... ORPHA:465508
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Splenomegaly OMIM:613027
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmune hemolytic anemia, Abnormal urinary color, Spleno... ORPHA:90033
Omenn Syndrome
Anemia, Nephrotic syndrome, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomega... ORPHA:39041
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Scrub Typhus
Lymphadenopathy, Myocarditis, Renal insufficiency, Splenomegaly ORPHA:83317
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiomegaly, Ascites, Micro... OMIM:616897
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocyt... OMIM:616084
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Sandhoff Disease
Urinary incontinence, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Splenomegaly, Hepatomegaly, Intrahepatic cholestasis OMIM:235555
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Enlarged kidney, Long penis, Hypertrophic cardiomyopathy, Hepatomegaly, Enlarged ovaries, Nephroc... ORPHA:508
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Hepatocellular carcinoma, Abnormal erythrocy... ORPHA:370
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy ORPHA:3386
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Pearson Syndrome
Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Th... ORPHA:699
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Cardiomyopathy, Ventricular septal defect, Transposition of the great arteries, E... OMIM:312870
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... OMIM:230800
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Cardiomegaly, Vacuolated lymphocytes, Splenome... OMIM:230000
Mirage Syndrome
Leukopenia, Anemia, Microphallus, Recurrent urinary tract infections, Lymphopenia, Hypospadias, T... OMIM:617053
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia OMIM:618398
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Nephroblastoma, Splenomegaly OMIM:612918
Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:349
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... OMIM:607765
Cirrhotic Cardiomyopathy
Cirrhosis, Jaundice, Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiom... ORPHA:57777
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Pol... ORPHA:53035
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Hepatitis, Dilated cardiomyopathy, Intrahepatic cholestasis, Hepatic s... OMIM:614921
Felty Syndrome
Anemia, Recurrent urinary tract infections, Pericarditis, Lymphadenopathy, Bone marrow hypocellul... ORPHA:47612
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple... ORPHA:131
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Mitral valve prolapse, At... OMIM:615873
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas... OMIM:613812
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... ORPHA:86843
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Abnormality of the lower urin... ORPHA:391428
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... ORPHA:822
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Lymphaden... OMIM:615895
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... OMIM:618278
Infantile Liver Failure Syndrome 3
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasis, Hepatomegaly, Splenomegaly OMIM:618641
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Gaucher Disease, Perinatal Lethal
Anemia, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly OMIM:608013
Glycogen Storage Disease Ii
Urinary incontinence, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiec... ORPHA:1655
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hepatomegaly ORPHA:53715
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... OMIM:616100
Scheie Syndrome
Mucopolysacchariduria, Splenomegaly, Hepatomegaly ORPHA:93474
Syndromic Diarrhea
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, Ventricular sept... ORPHA:84064
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Acute leukemia ORPHA:3318
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Hereditary Elliptocytosis
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... ORPHA:288
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom... ORPHA:158061
Gaucher Disease Type 3
Mitral valve calcification, Anemia, Pericardial effusion, Hematuria, Abnormal heart valve morphol... ORPHA:77261
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegal... ORPHA:79330
Q Fever
Endocarditis, Anemia, Abnormality of the liver, Hepatitis, Pericardial effusion, Hematuria, Abnor... ORPHA:781
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Recurrent urinary tract infections, Pulmonic stenos... OMIM:612541
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular... ORPHA:2137
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect OMIM:617022
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Pericarditis, Lymphadenopathy, Nephropathy, Hepatomegaly, Mediastin... ORPHA:809
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... OMIM:251880
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Hepatic steatosis, Pancreatitis, Cardiomyopathy ORPHA:90970
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... ORPHA:308552
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Anemia, Hyperphosphaturia, Polyuria, Hepatomegaly, Splenomegaly, Hypercalciuria OMIM:239200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Polycystic ki... OMIM:610199
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Hepatic fibrosis, Sclerosing cholangitis, Jaundice, Bile duct proli... OMIM:607626
Hardikar Syndrome
Hypoplasia of the bladder, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Thrombocytopeni... OMIM:301068
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell... ORPHA:231214
Familial Mediterranean Fever
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal amyloidosis, Neutrophilia, Pericarditis... OMIM:249100
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Glycogen Storage Disease Xii
Anemia, Normocytic anemia, Jaundice, Hemoglobinuria, Cholecystitis, Hepatomegaly, Cholelithiasis,... OMIM:611881
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... ORPHA:363705
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... OMIM:300257
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Jaundice, Acholic stools,... ORPHA:30391
Hyper-Igd Syndrome
Lymphadenitis, Elevated urine mevalonic acid level, Renal angiomyolipoma, Neutrophilia, Hepatospl... OMIM:260920
Chronic Granulomatous Disease
Liver abscess, Abnormality of neutrophils, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:379
Hyperlipoproteinemia, Type I
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Familial Mediterranean Fever
Splenomegaly, Nephrotic syndrome, Ascites, Pericarditis, Lymphadenopathy, Nephropathy, Proteinuri... ORPHA:342
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hepatomegaly, Vacuolat... ORPHA:565612
Microphthalmia, Syndromic 6
Aplasia of the optic tract OMIM:607932
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria ORPHA:268
Mucopolysaccharidosis Type 3
Cardiomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Adenoiditis, Mu... ORPHA:581
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume OMIM:153670
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233710
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Aminoaciduria, Portal inflammation, Hepatic steatosis, Hepatomegaly,... OMIM:619991
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Splenomegaly, Hydroneph... OMIM:617913
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Primary microcephaly, Secondary microcephaly, Abnormal corpus callo... ORPHA:261552
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Hepatic steatosis, Hepatomegaly, Chol... ORPHA:567983
Multiple Myeloma
Anemia, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder, Lymphadenopathy, Nep... ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Abnormality of the hepatic vasculature, Hepatomegaly, Cardiomegaly, Rig... ORPHA:1677
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Pancreatitis, Splenomegaly, Hepatomegaly OMIM:615947
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233690
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Episodic hemolytic anemia, Chronic hemolytic anemia, Gia... OMIM:210250
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Histiocytoid Cardiomyopathy
Renal cyst, Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Ventricular septal hypertrophy, Hepatic steatosis, Hypertrophic cardiomyopathy, Acute ... OMIM:269700
Bohring-Opitz Syndrome
Nephroblastoma, Abnormal cardiac septum morphology, Urinary retention, Annular pancreas, Cardiome... ORPHA:97297
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Red urine, Jaundice, Pink urine, Hepatomegaly, Cholelithiasis, Thrombocytopenia... OMIM:263700
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune ... ORPHA:51
Hepatic fibrosis, Cirrhosis, Anemia, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Cardiomega... ORPHA:14
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... ORPHA:365
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Williams Syndrome
Abnormal cardiac septum morphology, Abnormality of the bladder, Hypertrophic cardiomyopathy, Neph... ORPHA:904
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Horseshoe kidney, Splenomegaly, Hepatomegaly OMIM:617088
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Microcytic anemia OMIM:256040
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pancreatic calcification, Cardiomegaly, Pericardial effusion, Hyperphosp... ORPHA:51608
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Hypospadias, Renovascular hypertension, Renal ar... ORPHA:3472
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... OMIM:182250


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ephb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ephb1.

No publications found that use IMPC mice or data for Ephb1.

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MGI Allele Allele Type Produced
Ephb1tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ephb1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ephb1tm40317(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ephb1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ephb1tm40317(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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