Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
beta-carotene oxygenase 2
Synonyms:
beta-diox-II,  B-diox-II,  CMO2,  Bcdo2,  Bcmo2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Bco2 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 Bco2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Polycystic ovaries... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hepatic steatosis, Lipodystrophy, Primary amenorrhea, Hepatomegaly, Hypertr... OMIM:612526
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hepatomegaly, Pancytopenia, Hepatic failure, Hy... OMIM:617872
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatomegaly, Pancreatitis,... ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
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
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Hypersplenism, Leukopenia, Anemia, Bone-marrow foam... OMIM:278000
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Hepatic steatosis, Lipodyst... ORPHA:79085
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabe... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Hepatic steatosis, Lipodyst... ORPHA:435660
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Diabetes me... OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Oligospermia, Hepatic steatosis, Hypertriglycerid... OMIM:615703
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipodystrophy,... OMIM:604367
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Flexion contract... OMIM:615381
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Elevated hepatic transaminase, Amenorrhea, Hepatocellular carcinoma, Impo... OMIM:235200
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Flexion contracture, Splenomegaly OMIM:608540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Polycystic ovaries, Hepatomegaly, Hype... ORPHA:2348
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Jaundice, A... OMIM:224100
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:618495
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... OMIM:271500
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy, Diabetes mellitus OMIM:615980
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Amenorrhea, Hepatomegaly, Splenomegaly, Hypogonadotropic hyp... OMIM:602390
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Primary amenorrhea,... ORPHA:79083
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Labial pseudohypertrophy, Increased intraabdominal fat, Hyperinsulinemia, H... OMIM:151660
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund... OMIM:616860
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Hepatic fibrosis, Jaundice, Hepatomegaly, ... OMIM:616278
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepatic steatosis,... ORPHA:528
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Dysmenorrhea, Oligomenorrhea, Irr... ORPHA:370
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Menometrorrhagia, Polycystic ovaries, P... ORPHA:90970
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Lipoatrophy ORPHA:79087
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Elevated hepatic transaminase, He... ORPHA:905
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatic failure, Hepatomegaly OMIM:616719
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Lef... OMIM:619048
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Microcytic anemia, Hepatic steatosis, Hypothyroidism, Hypopituitar... OMIM:619013
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Hypertriglyceridemia, Thrombocytopenia, An... OMIM:603552
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hepatic steatosis, Hepatomega... ORPHA:363400
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Hepatomegaly, Acute myeloid leukemia, Thrombocytopenia, Anemia, Splenomega... OMIM:133180
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Hepatomegaly, Decreased serum testosterone concentration, Splenomegaly,... OMIM:201100
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomega... OMIM:615285
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Portal f... OMIM:614300
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Ma... OMIM:615438
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased fertility in females, Decreased serum leptin, Elevated hepatic transaminase,... OMIM:608594
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Dysmenorrhea, Oligomenorrhea, Irr... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Adrenal insuffici... OMIM:619386
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased fertility in females, Decreased serum leptin, Elevated hepatic transaminase,... OMIM:269700
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Ele... OMIM:235555
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Ddost-Cdg
Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase, Primary hypothyroidism ORPHA:300536
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:369840
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Steator... OMIM:607765
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Hepatic steatosis... ORPHA:280365
Adrenomyodystrophy
Hepatic steatosis, Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Normochromic microcytic anemia, Hypospadias, De... OMIM:610198
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopenia, Hepatitis, Anemia, Splenomegal... ORPHA:848
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidis... ORPHA:465508
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Elevated hepatic iron concentrat... ORPHA:231222
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepato... OMIM:610333
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase... OMIM:613489
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Reduced level of N-a... OMIM:224120
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Cholelithiasis, Jaund... OMIM:613470
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Scarring alopecia of scalp, Cholestasis, Hepatomegaly, Jaundic... ORPHA:59303
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Wolman Disease
Bone-marrow foam cells, Steatorrhea, Hepatomegaly, Adrenal insufficiency, Ascites, Hepatic failur... ORPHA:75233
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Pancytopenia, Aplastic anemia, S... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Hypertriglyceridemia, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine level in liver, Hepatomegal... OMIM:212140
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Scarring, Periporta... ORPHA:101330
Lcat Deficiency
Hemolytic anemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy ORPHA:650
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Transient hyperlipi... OMIM:255120
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Macrove... OMIM:600649
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatic steatosis, Panniculitis, Insulin-resistant diabetes mellitus... ORPHA:79086
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase ... ORPHA:53035
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Decrea... OMIM:615486
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Elevated total serum tryptase, Hepatomegaly, Splenomega... ORPHA:98848
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity, Uterine leiomyoma, Uterine leiomyosarcoma OMIM:150800
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Elevated gamma-glutam... ORPHA:30391
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Distal arthrogryposis, Decreased ... ORPHA:42
Methylmalonic Aciduria, Cblb Type
Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Anemia, Decreased methylmalonyl-CoA mu... OMIM:251110
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Cellulitis, Increased p... OMIM:615513
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Thyroiditis, Hepatoce... ORPHA:2137
Dk1-Cdg
Elevated hepatic transaminase, Lipoatrophy, Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology ORPHA:31
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Methylmalonic Aciduria, Cbla Type
Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Anemia, Decreased methylmalonyl-CoA mu... OMIM:251100
Gaucher Disease, Type Iii
Decreased beta-glucocerebrosidase level, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:231000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Splenomegaly OMIM:602271
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Hernia, Splenomegaly ORPHA:93476
Babesiosis
Hemolytic anemia, Hepatomegaly, Jaundice, Thrombocytopenia, Splenomegaly, Leukopenia, Hepatic fai... ORPHA:108
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Panniculitis, Flexion contracture, Hepatomegaly, Splenomegaly, Gener... OMIM:619183
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Jaund... ORPHA:131
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jaundice, Norm... OMIM:611881
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Flexion contra... OMIM:613327
Sialidosis Type 2
Flexion contracture, Umbilical hernia, Hepatomegaly, Inguinal hernia, Ascites, Splenomegaly ORPHA:87876
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenal insufficiency, Adrenocorticotropic hormo... OMIM:609981
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Lack of facial subcutaneous fat, Elevated hepatic transaminase, Microcytic ane... ORPHA:2959
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Hepatic steatosis, Primary amenorrhea, Female inf... ORPHA:91
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Hepatic fibrosis, Hepatomegaly, Pancytopenia, Decreased liver ... OMIM:606003
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, Delayed pu... OMIM:614921
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatic failure,... ORPHA:541423
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Fulmi... OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Lipodystrophy, Panniculitis, Flexion contracture, Hep... OMIM:617591
Alstrom Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hypergonadotropic hypo... OMIM:203800
Citrullinemia Type Ii
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma,... ORPHA:247585
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure, Reduced carnitin... ORPHA:228305
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:201450
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Hepatomegaly, Pancytopenia, Thromb... ORPHA:507
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis,... OMIM:212065
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Pancytopenia, Splenomegaly, Hyperlipidemia... ORPHA:79477
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Macrovesicular hepatic ... ORPHA:298
Crimean-Congo Hemorrhagic Fever
Elevated hepatic transaminase, Hepatic steatosis, Thrombocytopenia, Jaundice, Leukopenia ORPHA:99827
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehydrogenase level, He... OMIM:231530
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaundice, Anemia of inadequate prod... OMIM:612714
Lymphoproliferative Syndrome 2
Hemophagocytosis, Hepatomegaly, Pancytopenia, Ascites, Aplastic anemia, Splenomegaly, Hepatosplen... OMIM:615122
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Decreased mean corpuscular hemoglobin concentration, Reticulocy... ORPHA:3203
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Omenn Syndrome
Severe B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Thrombocytopenia, Eosinophilia,... OMIM:603554
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly, Hypogonadism OMIM:619273
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Proteus Syndrome
Lymphangioma, Multiple lipomas, Lipoma, Splenomegaly OMIM:176920
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase ... OMIM:277410
Sea-Blue Histiocytosis
Hepatomegaly, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615846
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Congenital Rubella Syndrome
Hepatomegaly, Jaundice, Thrombocytopenia, Type I diabetes mellitus, Anemia, Splenomegaly ORPHA:290
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Aredyld Syndrome
Abnormal dental enamel morphology, Lipoatrophy, Hepatomegaly, Type I diabetes mellitus, Type II d... ORPHA:1133
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Recurrent pancreatitis, Jaundice, Hypertriglyceridemia, Di... ORPHA:444490
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Pancreatic fibrosis, Steatorrhea, Hepatic... OMIM:616263
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Increased circulating... ORPHA:824
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Hepatomegaly, Pancytopenia, Thrombo... ORPHA:398124
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:261680
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Flexion contracture, Hepatomegaly, Pancytopenia, Thrombocytop... ORPHA:85212
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Pancyt... ORPHA:2585
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Panniculitis, Pancytopenia, Hypertriglyceridemia, Anemia, Splenomegaly OMIM:618398
19P13.12 Microdeletion Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Hypospadia... ORPHA:254346
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
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Camptodactyly, Hepatomegaly, Knee flexion contracture, Splenomegal... OMIM:608799
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Umbilical hernia, Cholestasis, Hepatic fibrosis, Hepatomegaly, H... OMIM:610199
Niemann-Pick Disease, Type A
Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Microcytic... OMIM:257200
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Camptodactyly, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomeg... OMIM:614866
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Hepatomegaly, Abnormal fa... ORPHA:1655
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Gaucher Disease, Type Ii
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Griscelli Syndrome
Abnormality of neutrophils, Hepatomegaly, Jaundice, Hepatitis, Thrombocytopenia, Ascites, Leukope... ORPHA:381
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Absent vas deferens, Hypothyroidism, Jaundice, ... ORPHA:93111
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly OMIM:201475
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Inguinal hernia, Cardiomegaly, Asci... OMIM:256550
Immunodeficiency 32B
Splenomegaly OMIM:226990
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Hepatomegaly, Inguinal hernia, Thyroid lymphangiecta... OMIM:235255
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Anemia, Pancreatitis ORPHA:79312
Adult-Onset Still Disease
Elevated hepatic transaminase, Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis... ORPHA:829
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Type II diabetes mellitus, Splenomegaly ORPHA:61
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Thrombocytopenia, Decreased liver function... OMIM:251290
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, H... ORPHA:66634
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Abnormality of Krebs cycle metabolism, Hepatic failure ORPHA:255210
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Hepatomegaly, Thrombocytopenia, Abnormal neutrophil co... ORPHA:3226
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Xanthelasma, Hypercholesterolemia, Bone-marrow foam cells, Microv... ORPHA:275761
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Thrombocytopenia, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis ORPHA:52430
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic fa... ORPHA:71212
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Cirrhosis, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Elevated ... OMIM:614576
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Hepatomegaly,... OMIM:308230
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hepatic steatosis, Hypothyroidism, Acute pancreatitis, Hepatom... ORPHA:412
Roifman Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Hip contracture, Lymphadenopathy OMIM:616651
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Prolonged neonatal jaundice, Thrombo... OMIM:225750
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Elevated hepatic transaminase, Neutropenia, Hepatomegaly, Jaundice, Hypertrigly... ORPHA:540
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Abnormal granulocyte mo... ORPHA:98907
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenomegaly OMIM:207750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Small scrotum, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pancytop... OMIM:613658
Muckle-Wells Syndrome
Camptodactyly of finger, Hepatomegaly, Delayed puberty, Anemia, Splenomegaly, Hernia of the abdom... ORPHA:575
Primary Sclerosing Cholangitis
Thyroiditis, Jaundice, Cirrhosis, Acute hepatic failure, Elevated alkaline phosphatase of hepatic... ORPHA:171
Mevalonic Aciduria
Splenomegaly ORPHA:29
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly,... OMIM:238600
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neutropenia, Infection associat... ORPHA:445038
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hepatomegaly, Hypopl... OMIM:612541
Sialuria
Hepatomegaly, Hypoplastic nipples, Inguinal hernia, Splenomegaly OMIM:269921
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Hepatic steatosis, Elevated hemoglobin A1c, Eleva... OMIM:617253
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Splenomegaly ORPHA:33577
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Lymphadenopathy, Hepat... ORPHA:39041
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Elevated hepatic t... ORPHA:525731
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Sitosterolemia 1
Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Increased circulating lactate dehydrogenase con... ORPHA:99901
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholangitis, Vaginal atresia, Splenomegaly... OMIM:612726
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Friedreich Ataxia
Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Poikiloderma With Neutropenia
Increased circulating lactate dehydrogenase concentration, Neutropenia, Splenomegaly OMIM:604173
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Hepatomegaly, Prolonged ne... OMIM:257220
Oculoskeletodental Syndrome
Cryptorchidism, Hypothyroidism, Hepatomegaly, Splenomegaly, Elbow flexion contracture OMIM:618440
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis OMIM:220111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Delayed puberty, Anemia, Hyperlipidemia, Enlarged... ORPHA:79259
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Flexion contracture of finger, Azoospermia, Hypergonadotropic hypogonadi... OMIM:602782
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Thrombocytopenia, Hepati... ORPHA:699
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hepatic fibrosis, Hepatome... OMIM:216360
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatome... OMIM:203700
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:212138
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Hepatomegaly, Pancytopenia, Thrombocytopenia, Delayed puber... ORPHA:77259
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Chronic pancreatitis, Hepatic steatosis, Increased circulating lac... ORPHA:98908
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Neutropenia, Decreased methionine synthase activity, Thrombocytopenia, Decr... OMIM:277400
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Prolonged neonatal j... OMIM:170100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating lac... ORPHA:247598
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hepatic steatosis, Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase ORPHA:348
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jau... OMIM:615512
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, H... OMIM:608836
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Felty Syndrome
Cellulitis, Abnormal lymphocyte morphology, Neutropenia, Hepatomegaly, Thrombocytopenia, Anemia, ... ORPHA:47612
Hurler-Scheie Syndrome
Hepatomegaly, Umbilical hernia, Splenomegaly OMIM:607015
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Cellulitis, Lymphadenitis, Impaired oxidative burst, Decreased activity of NADPH oxidase, Hepatom... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Cellulitis, Lymphadenitis, Impaired oxidative burst, Decreased activity of NADPH oxidase, Hepatom... OMIM:233710
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Ascites... OMIM:259720
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Inguinal hernia, Pancreatitis OMIM:236200
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Primary adrenal insufficiency, Fetal ascites, C... OMIM:261515
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hypocalc... ORPHA:169090
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Flexion contracture, Macrovesicular hepatic steatosis, Neutropenia, Hepatomegaly... OMIM:617303
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Lymphadenitis, Impaired oxidative burst, Decreased activity of NADPH oxidase, Hepatom... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Cellulitis, Lymphadenitis, Impaired oxidative burst, Decreased activity of NADPH oxidase, Hepatom... OMIM:233690
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hernia, Splenomegaly OMIM:252930
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Hepatom... ORPHA:100026
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating alk... OMIM:259700
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Hepatomegaly, Hypereosinophilia, Splenomegaly OMIM:617388
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Hypertriglyceridemia, Pa... OMIM:603553
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Camptodactyly, Hashimoto thyroiditis, Hepatomegaly, Pancytopenia, Hepatitis, Type... OMIM:613385
Mitochondrial Trifunctional Protein Deficiency
Chronic hepatic failure, Cholestasis, Left ventricular hypertrophy, Hypoparathyroidism, Diffuse h... ORPHA:746
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Reynolds Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Steatorrhea, Hepatomegaly, Jaundice, Elevated c... OMIM:613471
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Legionnaires Disease
Cellulitis, Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellula... ORPHA:549
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
8P11.2 Deletion Syndrome
Cryptorchidism, Hemolytic anemia, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Hypog... ORPHA:251066
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Acute hepati... OMIM:276700
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hepatic calcification, Cardiomegaly, Hepatic fai... ORPHA:228308
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histio... OMIM:607625
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morpholo... ORPHA:464329
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Hypothyroidism, Ste... ORPHA:14
Joubert Syndrome With Hepatic Defect
Cirrhosis, Elevated hepatic transaminase, Chronic hepatic failure, Neoplasm of the liver, Hepatom... ORPHA:1454
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Lym... ORPHA:2442
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Inguina... OMIM:305400
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Hepatomegaly, Inguinal hernia, Decreased beta-galactosidase activity, Spl... OMIM:230500
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Elevated gamma-glutamyltransferase level, Pancreatic cysts, Periportal fibrosis,... ORPHA:731
Proteus-Like Syndrome
Shagreen patch, Subcutaneous lipoma, Polycystic ovaries, Abnormality of the parathyroid gland, Sp... ORPHA:2969
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Decreased beta-glucocerebrosidase level, Hepatomegaly, Thromb... OMIM:608013
Zimmermann-Laband Syndrome
Hepatomegaly, Abnormal external genitalia, Splenomegaly ORPHA:3473
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Cholangitis, Decrea... OMIM:124000
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hypersplenism OMIM:230800
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Anemia, Diffuse hepatic steatosis ORPHA:436271
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Elevated total serum tryptase, Leukocytosis, Chronic lymphatic leukemia, Normoc... ORPHA:98849
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Lymphopenia, Panniculitis, Hashimoto... OMIM:615688
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Flexion contracture, Splenomegaly OMIM:252940
Mucopolysaccharidosis Type 7
Umbilical hernia, Inguinal hernia, Hepatitis, Ascites, Splenomegaly ORPHA:584
Common Variable Immunodeficiency
Hemolytic anemia, Elevated hepatic transaminase, Autoimmune thrombocytopenia, Lymphopenia, Spleno... ORPHA:1572
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Decreased serum insulin-like growth factor 1, Acute promy... ORPHA:77293
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Menorrhagia, Splenomegaly OMIM:153670
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Thrombocytopenia, Leukopenia, Spl... OMIM:267700
Hurler Syndrome
Flexion contracture, Enlarged tonsils, Umbilical hernia, Hepatomegaly, Inguinal hernia, Hernia, S... OMIM:607014
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Steatorrhea, Hepatomegaly, Elevated circulating alkaline phosphatase concentratio... OMIM:618268
Gray Platelet Syndrome
Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Monosomy 13Q34
Hepatic steatosis, Metrorrhagia ORPHA:96168
Juvenile Idiopathic Arthritis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:92
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Fucosidosis
Vacuolated lymphocytes, Flexion contracture, Hepatomegaly, Hernia, Cardiomegaly, Splenomegaly OMIM:230000
Kagami-Ogata Syndrome
Flexion contracture, Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly OMIM:608149
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly OMIM:619046
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone... OMIM:239200
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Cardiomegaly, Elbow flexion contr... OMIM:256040
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Elevated hepatic transaminase, Polycythemia, Hepatomegaly, Jaundice, Sple... ORPHA:309854
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Hepatic steatosis, Flexion contracture, Decreased testicular size, Micropenis, Hypo... OMIM:619321
Sialidosis Type 1
Hernia, Splenomegaly ORPHA:812
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatic steatosis, Flexion contracture, Hepatomegaly, Hypospadias,... ORPHA:17
Pycnodysostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Whipple Disease
Erectile dysfunction, Hypothyroidism, Hepatomegaly, Anemia, Splenomegaly, Mediastinal lymphadenop... ORPHA:3452
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly ORPHA:36412
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615356
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypothyroidism, Lymphopenia, Increased mean platelet volume, Hepatomeg... ORPHA:84064
Mucopolysaccharidosis, Type Vii
Flexion contracture, Umbilical hernia, Hepatomegaly, Inguinal hernia, Splenomegaly OMIM:253220
Congenital Disorder Of Glycosylation, Type Iie
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function, Splenomegaly OMIM:608779
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Acute pancreatitis, Hepatomegaly, Ja... ORPHA:20
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Hepatitis, Splenomegaly, Anemia, C... ORPHA:781
Opsismodysplasia
Hepatomegaly, Splenomegaly ORPHA:2746
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Gm1 Gangliosidosis
Camptodactyly of finger, Abnormality of the scrotum, Inguinal hernia, Decreased beta-galactosidas... ORPHA:354
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Cirrhosis, Abnormal testis morphology, Abnormal... ORPHA:1775
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Anemia OMIM:220110
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Mucopolysaccharidosis, Type Ii
Flexion contracture, Umbilical hernia, Hepatomegaly, Inguinal hernia, Splenomegaly OMIM:309900
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly OMIM:612918
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Atypical scarring of skin, Cholelithiasis, Corneal scarring, Thrombocytopenia, ... OMIM:263700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Elevated hepatic transaminase, Vacuol... ORPHA:167
Adams-Oliver Syndrome 5
Umbilical hernia, Inguinal hernia, Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly, Abnormal enzyme/coenzyme activi... ORPHA:565612
Lymphatic Malformation 6
Hydrocele testis, Cellulitis, Hypothyroidism, Ascites, Splenomegaly, Intestinal lymphangiectasia OMIM:616843
Gaucher Disease, Type Iiic
Hepatomegaly, Cardiomegaly, Pancytopenia, Splenomegaly OMIM:231005
Polycythemia Vera
Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:809
Familial Mediterranean Fever
Peritonitis, Leukocytosis, Orchitis, Hepatomegaly, Splenomegaly, Neutrophilia OMIM:249100
Atypical Werner Syndrome
Ovarian neoplasm, Hyperinsulinemia, Chondrocalcinosis, Abnormal testis morphology, Hepatic steato... ORPHA:79474
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypogonadism, Arthrogryposis multiplex congenita, Splenomegaly ORPHA:163746
Fructose Intolerance, Hereditary
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:229600
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly ORPHA:585
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Splenomegaly ORPHA:3035
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Hepatomegaly, Jaundice, Thrombocytopenia, Decreased liver function, An... ORPHA:90051
Hermansky-Pudlak Syndrome 2