Gene Summary

Name:
ubiquitin-conjugating enzyme E2F (putative)
Synonyms:
2510010F15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Ube2fem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Ube2fem1(IMPC)Mbp HET Early adult 0.00
enlarged seminal vesicle Ube2fem1(IMPC)Mbp HET Late adult 0.00
small testis Ube2fem1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Ube2fem1(IMPC)Mbp HET Late adult 0.00
abnormal limb bud morphology Ube2fem1(IMPC)Mbp HOM E9.5 0.00
abnormal testis morphology Ube2fem1(IMPC)Mbp HET Late adult 0.00
abnormal optic vesicle formation Ube2fem1(IMPC)Mbp HOM E9.5 0.00
abnormal spleen morphology Ube2fem1(IMPC)Mbp HET Late adult 0.00
small liver Ube2fem1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Ube2fem1(IMPC)Mbp HET Late adult 0.00
abnormal pharyngeal arch morphology Ube2fem1(IMPC)Mbp HOM E9.5 0.00
enlarged heart Ube2fem1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Ube2fem1(IMPC)Mbp HOM E9.5 0.00
enlarged liver Ube2fem1(IMPC)Mbp HET Late adult 0.00
abnormal eye morphology Ube2fem1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Ube2fem1(IMPC)Mbp HET Late adult 0.00
abnormal heart shape Ube2fem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Ube2fem1(IMPC)Mbp HOM   Early adult 0.00
increased heart weight Ube2fem1(IMPC)Mbp HET Early adult 5.16×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

57 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Ube2f 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 Ube2f by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Retinitis Pigmentosa 59
Hepatomegaly, Cryptorchidism, Micropenis, Elevated hepatic transaminase OMIM:613861
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase OMIM:614582
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Pancytopenia, Hepatomegaly, Hepatic failure, Hy... OMIM:617872
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hyp... OMIM:602390
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Elevated hepatic transaminase, Amenorrhea, Hepatocellular carcinoma, Impo... OMIM:235200
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Lambert Syndrome
Branchial anomaly ORPHA:1296
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... OMIM:271500
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Rft1-Cdg
Hepatomegaly ORPHA:244310
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Splenomegaly OMIM:608540
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund... OMIM:616860
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated hepatic transaminase OMIM:306000
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase OMIM:232700
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dila... OMIM:600649
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Jaundic... OMIM:616278
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism OMIM:613730
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomy... OMIM:617713
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Adrenal calcification ORPHA:75234
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased serum testosterone concentration, Splenomegaly, Decreased testicular size... OMIM:201100
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia OMIM:614034
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly, Type II diabetes mellitus ORPHA:79095
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine... OMIM:212140
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated hepatic transaminase, Lymphadenopathy OMIM:615895
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes m... OMIM:612526
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst OMIM:609166
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Testicular neopla... ORPHA:83469
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase OMIM:619064
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Elevated hepatic iron concentrat... ORPHA:231222
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly, Elevated hepatic transaminase ORPHA:858
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis... OMIM:613070
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Elevated hepatic transaminase OMIM:610717
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic fibrosis, Hepatomegal... ORPHA:369
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Cryptorchidism, Hypospadias OMIM:604273
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Hepatic failure OMIM:618528
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidis... ORPHA:465508
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Elevated hepatic transaminase ORPHA:890
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Jaundice, Hepatic fail... OMIM:619232
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insu... OMIM:609981
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly, Elevated hepatic transaminase OMIM:255120
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
3-Methylglutaconic Aciduria Type 1
Hepatomegaly ORPHA:67046
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Elevated hepatic transaminase OMIM:618958
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Thrombocytopenia, Hepatomegaly, Ascites, Anemia ORPHA:2123
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Galactosemia
Cryptorchidism, Cirrhosis, Elevated hepatic transaminase, Decreased serum insulin-like growth fac... ORPHA:352
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Galactosemia I
Cirrhosis, Hemolytic anemia, Hypergonadotropic hypogonadism, Hepatomegaly, Decreased liver functi... OMIM:230400
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Splenomegaly, Hepat... ORPHA:75233
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus, P... ORPHA:79085
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver func... OMIM:608104
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology ORPHA:2849
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Elevated hepatic transaminase, Decreased serum in... ORPHA:79239
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Elevated hepatic transaminase, He... ORPHA:905
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypogonadism, Dia... OMIM:615381
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hepat... OMIM:602579
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly OMIM:612015
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Splenomegaly OMIM:602271
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly OMIM:615924
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus, P... ORPHA:435651
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Cholestasis OMIM:609060
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Lef... OMIM:619048
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Irregular menstruation, Hepatocellular ... ORPHA:370
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:246900
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Osteolytic defects of the distal phalanges of ... ORPHA:50815
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Hype... OMIM:201475
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatomegaly, Hepatosplenomegaly, Premature ova... ORPHA:79237
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanin... ORPHA:53035
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Klatskin Tumor
Extrahepatic cholestasis, Hepatomegaly, Jaundice, Cholangiocarcinoma, Lymphadenopathy ORPHA:99978
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly ORPHA:1131
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Camptodactyly, Tapered finger, Branchial cyst ORPHA:435938
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis,... ORPHA:567983
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Ma... OMIM:615438
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Oligomenorrhea, Hepatic steatosis, Primary amenorrhea, Polycystic o... ORPHA:79083
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Hypothyroidism, Pancytopenia, Hepatomegaly, Type II diabetes mellit... ORPHA:99812
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Delayed puberty OMIM:615704
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice OMIM:614872
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated hepatic transaminase, Hepatomegaly OMIM:614727
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly OMIM:614859
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Immunodeficiency 32B
Splenomegaly OMIM:226990
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly OMIM:613839
Leber Congenital Amaurosis 1
Hepatomegaly OMIM:204000
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Hypothyroidism, Periportal fibrosi... ORPHA:30391
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, H... ORPHA:528
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Irregular menstruation, Hepatocellular ... ORPHA:264580
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:369840
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver ORPHA:254864
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Secondary amenorrhea, Pancreatitis, Splenome... ORPHA:2348
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Type I diabetes mellitus, Anemia, Splenomegaly ORPHA:290
Propionic Acidemia
Hepatomegaly ORPHA:35
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus, P... ORPHA:435660
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly OMIM:614741
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis OMIM:608600
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hepatomega... ORPHA:276575
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Menometrorrhagia, Polycystic ovaries, Pancreatitis, Splenomegaly, T... ORPHA:90970
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Clitoral h... OMIM:614866
Triploidy
Cryptorchidism, Ambiguous genitalia, Hepatomegaly, Abnormality of the pancreas, Abnormality of th... ORPHA:3376
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Hepatomegaly, Abnormal fa... ORPHA:1655
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Pancytopenia, Thrombocytopenia, Hep... ORPHA:398124
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Leukocytosis, Intrahepatic cholestasis, Thrombocytopeni... ORPHA:480520
Microcephaly, Amish Type
Hepatomegaly OMIM:607196
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hype... ORPHA:276580
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Cryptorchidism, Hypospadias ORPHA:1194
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Immunodeficiency, Common Variable, 6
Hepatomegaly, Autoimmune thrombocytopenia, Enlarged kidney OMIM:613496
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Adult-Onset Still Disease
Elevated hepatic transaminase, Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis... ORPHA:829
Holoprosencephaly
Chorioretinal coloboma, Hand polydactyly, Cyclopia, Branchial anomaly, Holoprosencephaly, Spinal ... ORPHA:2162
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Lymphadenopathy, Hepat... ORPHA:39041
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Hypothyroidism, Neutropenia, Microcytic anemia OMIM:251900
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Hepatomegaly, Thyroid lymphangiectasia, Pulmonary ly... OMIM:235255
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly OMIM:500009
Mevalonic Aciduria
Splenomegaly ORPHA:29
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Elevated hepatic transaminase, Hepatomegaly OMIM:613561
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Thyroiditis, Hepatoce... ORPHA:2137
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse... ORPHA:276556
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia ORPHA:289916
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Liver abscess, Portal hypertension OMIM:600643
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsu... ORPHA:324575
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Decrea... OMIM:615486
Alpha-Mannosidosis
Hepatomegaly, Type II diabetes mellitus, Splenomegaly ORPHA:61
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly OMIM:614299
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Hypothyroidism, Splenomegaly OMIM:618440
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Type I diabetes mellitus, Hepatomegaly ORPHA:251009
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function... OMIM:251290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Coloboma, Branchial anomaly ORPHA:453499
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Sialuria
Hepatomegaly, Hypoplastic nipples, Splenomegaly OMIM:269921
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis, Hyperinsulinemia ORPHA:363400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Leukopenia, Macrocytic anemia ORPHA:27
Pyruvate Carboxylase Deficiency
Hepatomegaly OMIM:266150
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hydrocele testis, Micropenis OMIM:618810
Bor Syndrome
Branchial cyst ORPHA:107
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Increased hepatic glycogen content, Cardiomyopathy OMIM:619259
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Chronic... ORPHA:79124
Hypermanganesemia With Dystonia 1
Cirrhosis, Elevated hepatic transaminase, Polycythemia, Hepatomegaly, Decreased liver function OMIM:613280
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Aredyld Syndrome
Hepatomegaly, Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly ORPHA:1133
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholangitis, Vaginal atresia, Splenomegaly... OMIM:612726
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Trichohepatoenteric Syndrome 2
Hepatomegaly, Cirrhosis, Hepatitis OMIM:614602
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Goiter, Elevated hepatic transaminase, Increased c... ORPHA:525731
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hypothyroidism, Thrombocytopenia, Hepatomegaly, Prolonged neonatal... OMIM:225750
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Jaundice, Hepatomegaly... OMIM:214110
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:608799
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Ascites OMIM:608776
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Chronic noninfectious lymphadenopathy, Intrahepatic... ORPHA:100085
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Ascites, Hepati... ORPHA:367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion o... ORPHA:331206
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
8P11.2 Deletion Syndrome
Cryptorchidism, Hemolytic anemia, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Hypog... ORPHA:251066
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Anemia, Cholestasis OMIM:266920
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, H... OMIM:608836
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Hepatomegaly, Hypereosinophilia, Splenomegaly OMIM:617388
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fatal liver failure in infancy, Fetal ascites, Sea-blue histiocytosis, Pr... OMIM:257220
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cholelithiasis ORPHA:3166
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Aa Amyloidosis
Enlarged kidney, Hypothyroidism, Cholestasis, Hepatomegaly, Adrenal insufficiency ORPHA:85445
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hepatic fibrosis, Hepatome... OMIM:216360
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Thoraco-Abdominal Enteric Duplication
Hepatomegaly ORPHA:1759
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Prolidase Deficiency