Gene Summary

Name:
dual specificity phosphatase 16
Synonyms:
MKP7,  MKP-7,  D6Ertd213e,  3830417M17Rik

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 bone structure Dusp16em1(IMPC)Tcp HOM   Early adult 4.78×10-06
enlarged spleen Dusp16em1(IMPC)Tcp HOM Early adult 0.00
abnormal uterus morphology Dusp16em1(IMPC)Tcp HOM Early adult 0.00
decreased hematocrit Dusp16em1(IMPC)Tcp HOM   Early adult 1.34×10-05
increased spleen weight Dusp16em1(IMPC)Tcp HOM Early adult 1.32×10-06
decreased hemoglobin content Dusp16em1(IMPC)Tcp HOM Early adult 4.45×10-05
decreased body length Dusp16em1(IMPC)Tcp HOM Early adult 2.09×10-05
increased circulating bilirubin level Dusp16em1(IMPC)Tcp HOM Early adult 5.60×10-07
increased heart weight Dusp16em1(IMPC)Tcp HOM Early adult 6.59×10-05
enlarged lymph nodes Dusp16em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating HDL cholesterol level Dusp16em1(IMPC)Tcp HOM Early adult 6.76×10-05
decreased erythrocyte cell number Dusp16em1(IMPC)Tcp HOM Early adult 2.81×10-09
decreased prepulse inhibition Dusp16em1(IMPC)Tcp HOM   Early adult 2.86×10-06
increased mean corpuscular hemoglobin Dusp16em1(IMPC)Tcp HOM Early adult 7.15×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

60 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

8 Images

Eye Morphology

Images Slit Lamp

6 Images

Human diseases caused by Dusp16 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 Dusp16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... OMIM:620010
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... ORPHA:3319
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n... OMIM:619256
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l... OMIM:269920
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia ORPHA:1802
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... OMIM:607765
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:613313
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia ORPHA:100024
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... OMIM:211600
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Steatorrhea OMIM:235555
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati... OMIM:603553
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ... ORPHA:79303
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Biliary Atresia, Extrahepatic
Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atresia, Jaundice, Acholic stools, P... OMIM:210500
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abnormality of the tes... ORPHA:400
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom... OMIM:259720
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... OMIM:232800
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia ORPHA:172
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Hyperbilirubinemia, Cirrhosis ORPHA:79302
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... OMIM:251880
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Rickets OMIM:619232
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Cryptorchidism, Micropenis, Hypogonadism, Neonatal hyperbilirubinemia ORPHA:3363
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Splenomegaly, Thrombocytopenia, Os... OMIM:611490
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ... ORPHA:1667
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Increased total bilirubin OMIM:174050
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C... OMIM:612714
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Galactosemia Iii
Splenomegaly, Jaundice, Hypergalactosemia, Hepatomegaly OMIM:230350
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Elev... ORPHA:91547
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly ORPHA:2204
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia ORPHA:858
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Th... ORPHA:79312
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... OMIM:226990
Abetalipoproteinemia
Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatomegaly, Acanthocytosi... ORPHA:14
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... OMIM:607330
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Lymphangioma, Mandibular hyperostosis,... OMIM:176920
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... OMIM:619662
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abnormality of the lymphatic sys... ORPHA:1414
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata... ORPHA:79301
Wilson Disease
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... OMIM:277900
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Hyperbilirubinemia, Atrial septal defect, Elevated circulating... OMIM:614886
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Ventricular septal defect, Conjugated hyperbilirubinemia, Hepatic melanin-l... OMIM:208085
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A... ORPHA:567983
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang... ORPHA:2137
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Hemophagocytosis, Hyperbilirubi... ORPHA:39812
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt... OMIM:150550
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... ORPHA:234
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Hepatomegaly, Lymphadenopathy ORPHA:56425
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly OMIM:261750
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Prolonged neonatal jaundice, Decrea... OMIM:214950
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o... ORPHA:54251
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating p... ORPHA:79277
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Reduced bone mineral density, Leukopenia, ... OMIM:620210
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Ascites, Anemia ORPHA:75233
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... ORPHA:168577
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... OMIM:618886
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Prolonged neonatal... ORPHA:95717
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... OMIM:618838
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia ORPHA:108
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ... OMIM:614034
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Senior-Boichis Syndrome
Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chole... ORPHA:84081
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... OMIM:612561
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Hypoalbuminemia, Macrovesicular hepatic... OMIM:613070
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemi... OMIM:259700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving bones of the lowe... ORPHA:464321
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... ORPHA:77259
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... OMIM:613471
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa... OMIM:257200
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Jau... OMIM:613404
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron... OMIM:606003
Isolated Biliary Atresia
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gallbladder, Jaundice, Cholest... ORPHA:30391
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Osteomalacia, Intrahepatic cholestasis, Rickets, Hypophosphatemia, Hy... OMIM:227810
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th... ORPHA:290
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Increased hepatocellular ... ORPHA:71
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Increased serum bile acid concentration, Intrahepatic cholestasis, Hype... OMIM:619685
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Cardiomegaly ORPHA:88643
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea... ORPHA:829
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... OMIM:256550
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat... ORPHA:398124
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... OMIM:619991
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Osteolysis, Lymphadenopathy, Anemia, Bone marrow hypoce... ORPHA:47612
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypoch... OMIM:266510
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... OMIM:608836
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Anemia, Hypocalcemia,... ORPHA:163979
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Conjugated... OMIM:614866
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... ORPHA:276
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... OMIM:300842
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Osteolytic defects of the pha... OMIM:228000
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... ORPHA:95716
Fumarase Deficiency
Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hyperbilirubinemia, Ascites, ... OMIM:606812
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice ORPHA:95715
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... OMIM:618935
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... ORPHA:540
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocy... OMIM:617591
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... ORPHA:158048
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria OMIM:252920
Squalene Synthase Deficiency
Bicuspid aortic valve, Hypospadias, Increased circulating farnesol concentration, Bilateral crypt... OMIM:618156
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Jaundice, Hy... OMIM:617049
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive prote... ORPHA:160
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca... ORPHA:85451
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Reduced number o... OMIM:614887
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Jaundice, Cholecystitis, Increased serum bile acid concentration, Hy... ORPHA:69665
Bachmann-Bupp Syndrome
Cryptorchidism, Hyperbilirubinemia OMIM:619075
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol... OMIM:617156
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Steatorrhea, Persistence... OMIM:260400
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Pancytopenia, Thin bony cortex, Small scrotum, Portal hypertension, Rickets, Cholesta... OMIM:613658
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Joubert Syndrome 33
Splenomegaly OMIM:617767
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect, Increased size of n... OMIM:619769
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Sp... OMIM:612852
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Degcags Syndrome
Osteopenia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foramen ovale, Hepat... OMIM:619488
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Osteoporosis, Biliary cirrhosis, He... ORPHA:186
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Cranioectodermal Dysplasia 2
Hepatomegaly, Atrial septal defect, Cholangitis, Craniosynostosis, Splenomegaly, Biliary cirrhosi... OMIM:613610
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea... ORPHA:905
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lym... OMIM:615895
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, An... OMIM:615710
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Osteol... ORPHA:464329
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, T lymphocytopenia, ... OMIM:300755
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatic steatosis, Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Perica... OMIM:212065
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Neonatal hyperbilirubinemia ORPHA:348
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Hypertrophic cardiomyopathy OMIM:618810
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype... ORPHA:3008
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale, Hypocholesterolemia OMIM:610883
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy... ORPHA:2348
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukoc... ORPHA:77297
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H... ORPHA:79083
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru... OMIM:617093
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Increased bone mineral density, Mitral valve calcification, Abnormal ... ORPHA:77261
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphaden... ORPHA:29073
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal de... OMIM:619534
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia OMIM:170100
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi... ORPHA:809
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Hypocalce... OMIM:612301
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypospadias, Cryptorchidism, Double outlet right ventricle, Micropenis... ORPHA:163956
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... OMIM:618641
Cardiac-Urogenital Syndrome
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Lead Poisoning
Decreased HDL cholesterol concentration, Cranial hyperostosis, Imbalanced hemoglobin synthesis, A... ORPHA:330015
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis, Hepatomegaly OMIM:618541
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphad... ORPHA:549
Alg12-Cdg
Hyponatremia, Hypospadias, Cryptorchidism, Muscular ventricular septal defect, Abnormal bone ossi... ORPHA:79324
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Lipodystrophy, Congenital Generalized, Type 2
Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Elevated hem... OMIM:269700
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... OMIM:300972
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Dense calvaria, Asymmetric septal hypertrophy, Hepatomegaly OMIM:252900
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Prolonged neonatal jaundice, Macroorchidism, Hy... ORPHA:90674
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Osteopor... OMIM:222700
Mirizzi Syndrome
Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal duct... ORPHA:521219
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Female external genitalia in individual with ... ORPHA:168558
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch... ORPHA:562639
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
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