Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Dusp16em1(IMPC)Tcp HOM Early adult 5.08×10-07
increased heart weight Dusp16em1(IMPC)Tcp HOM Early adult 9.50×10-05
increased mean corpuscular hemoglobin Dusp16em1(IMPC)Tcp HOM Early adult 6.62×10-05
decreased prepulse inhibition Dusp16em1(IMPC)Tcp HOM   Early adult 2.90×10-06
decreased circulating HDL cholesterol level Dusp16em1(IMPC)Tcp HOM Early adult 6.76×10-05
enlarged lymph nodes Dusp16em1(IMPC)Tcp HOM Early adult 0.00
decreased body length Dusp16em1(IMPC)Tcp HOM Early adult 4.17×10-05
enlarged spleen Dusp16em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Dusp16em1(IMPC)Tcp HOM   Early adult 5.16×10-06
abnormal uterus morphology Dusp16em1(IMPC)Tcp HOM Early adult 0.00
decreased erythrocyte cell number Dusp16em1(IMPC)Tcp HOM Early adult 2.60×10-09
decreased hemoglobin content Dusp16em1(IMPC)Tcp HOM Early adult 4.52×10-05
decreased hematocrit Dusp16em1(IMPC)Tcp HOM   Early adult 1.21×10-05
increased spleen weight Dusp16em1(IMPC)Tcp HOM Early adult 1.32×10-06

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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


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


9 Images


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

6 Images



8 Images


XRay Images Whole Body Lateral Orientation

10 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
Matching phenotypes Source
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Abnormal bone structure, Splenomegaly ORPHA:46532
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Reticulocytosis, Splenomegaly OMIM:179700
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased... OMIM:620010
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... OMIM:616689
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatospl... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Acholic stools, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased se... OMIM:619868
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubin... 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
Anemia, Hepatomegaly, Osteopenia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly OMIM:610539
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:612653
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, S... OMIM:616649
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification, Abnormal cardiac sep... ORPHA:3319
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Cholecysti... OMIM:235700
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Cholesta... ORPHA:232
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S... OMIM:182900
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Prostate cancer, Acute ly... ORPHA:158057
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... OMIM:224120
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased circulati... OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Jaundice, Reticulocytosis, Hep... OMIM:266200
Hereditary Elliptocytosis
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... ORPHA:288
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Reduced bone mineral density, Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepat... ORPHA:848
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... OMIM:619256
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Conjugated hyperbilirubinemia, Cirrho... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration, Hepatomegaly OMIM:619874
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Conjugated hyperbilirubinemia, Osteopenia, Cardiomegaly, Sp... OMIM:269920
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... OMIM:301083
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... OMIM:601775
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad... OMIM:603552
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly 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 thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly, Anemia ORPHA:1802
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... OMIM:618963
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue h... OMIM:607616
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Conjugated hyperbilirubin... OMIM:607765
Hemochromatosis, Type 2B
Elevated transferrin saturation, Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatome... OMIM:613313
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Leukopenia, Hemophagocytosis,... OMIM:267700
Mu-Heavy Chain Disease
Abnormal B cell count, Osteolysis, Anemia, Osteoporosis, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co... ORPHA:822
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Jaundice, Reticulocytosis, Hemolytic... ORPHA:71275
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Unconjugated hy... ORPHA:79234
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Hypogonadism, Anemia, Decreased mean corpuscular volume, Hypochr... OMIM:615234
Rotor Syndrome
Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Storage in he... ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Conjugated hype... OMIM:211600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Cyanosis, Transient Neonatal
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenop... OMIM:613101
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Neutropenia, Splenomegaly, Anemia OMIM:602079
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... ORPHA:98870
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
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, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Thrombocytopenia... OMIM:615285
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegaly, Ascites ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Glycogen Storage Disease Xii
Reduced haptoglobin level, Jaundice, Normocytic anemia, Anemia, Hepatomegaly, Elevated circulatin... OMIM:611881
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly... OMIM:603553
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Jaundice, Extramedullary hematopoiesis, Cholestasis, Steatorrhea, Hepatomegaly, Prolonge... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugat... OMIM:601847
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, He... ORPHA:400
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:163596
Biliary Atresia, Extrahepatic
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... OMIM:210500
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Thrombocytopenia, Myelofibrosis, Splenomegaly OMIM:617441
Isolated Polycystic Liver Disease
Polycystic liver disease, Hepatomegaly, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Jaundice, Hepatomegaly, Ascites, Increased total bilirubin ORPHA:890
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia ORPHA:713
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... OMIM:259720
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Cholelithiasis, Hepatosplenomega... ORPHA:231222
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Glycogen Storage Disease Vii
Jaundice, Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglyc... OMIM:232800
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Intrahepatic cholestasis, Hypertyrosinemia, Hyperthreoninemia, Hypermethion... OMIM:605814
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Splenomegaly OMIM:614480
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... OMIM:613812
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Restrictive cardiomyopathy, Endocardial ... OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Jaundice, Cholestasis, Bile duct proliferation, Cirrhosis, Hyperbilirubinemia ORPHA:79302
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia, Jaundice OMIM:268150
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Periportal fibrosis... OMIM:251880
Hypermanganesemia With Dystonia 1
Polycythemia, Hepatomegaly, Hypermanganesemia, Cirrhosis, Unconjugated hyperbilirubinemia, Increa... OMIM:613280
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Tyrosinemia Type 1
Hepatocellular carcinoma, Rickets of the lower limbs, Hepatomegaly, Splenomegaly ORPHA:882
Progressive Familial Intrahepatic Cholestasis
Jaundice, Reduced bone mineral density, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia OMIM:615010
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Jaundice, Hyperammonemia, Abnormality of the liver, Atrial sep... ORPHA:1667
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Osteopet... OMIM:611490
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Ascites, Increased total bilirubin OMIM:174050
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Calvarial hyperostosis, Jaundice, Steatorrhea, Hepatomegaly, Anemia of inadequate production, Ost... OMIM:612714
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegal... OMIM:243300
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Galactosemia Iii
Jaundice, Hypergalactosemia, Hepatomegaly, Splenomegaly OMIM:230350
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... OMIM:616828
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hemochromatosis, Type 2A
Cardiomyopathy, Hepatomegaly, Cirrhosis, Splenomegaly, Azoospermia, Increased serum iron, Dilated... OMIM:602390
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly, Osteopenia, Anemia OMIM:618107
Relapsing Fever
Jaundice, Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated... ORPHA:91547
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Stomatocyt... OMIM:608885
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Cholestasis, Hypermethioninemia, Elevated circu... OMIM:614300
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Pancytopenia, I... OMIM:300635
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... OMIM:613179
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Anemia, Hypertriglyceridemia, Pancytopenia, Increased circulating ferritin conc... OMIM:618398
Immunodeficiency 76
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly, Splenomegaly ORPHA:2204
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o... OMIM:615559
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating gamma-aminobutyric acid concentration, Hepatic bridgi... OMIM:619658
Splenoportal Vascular Anomalies
Hyperammonemia, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, ... OMIM:271500
Bone Marrow Failure Syndrome 6
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increa... OMIM:618849
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Anemia, Left ventricular hypertrophy, Coronary art... ORPHA:31150
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites ORPHA:1046
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Ascites ORPHA:858
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrop... OMIM:620135
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Hypocalcemia, Hepat... OMIM:612526
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Increased total... OMIM:618528
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath... OMIM:300853
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Pancreatitis, Cardiomyopathy, Hepatomegaly, Thrombocytopenia, Splenomegal... ORPHA:79312
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... OMIM:619375
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Steatorrhea, Hepatic fibrosis, ... ORPHA:14
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Gamma-Heavy Chain Disease
Osteolysis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte... ORPHA:100026
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Burkitt Lymphoma
Hyperuricemia, Abnormality of the liver, Abnormality of the ovary, Abnormal lymph node morphology... ORPHA:543
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating alpha-fetoprotein concentration, Cholestasis, Bile duct proliferat... OMIM:619662
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Splenomeg... OMIM:176920
Caroli Syndrome
Cholangitis, Jaundice, Leukocytosis, Leukopenia, Liver abscess, Intrahepatic cholestasis, Pancrea... ORPHA:480520
Indolent Systemic Mastocytosis
Osteoporosis, Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increas... ORPHA:98848
Hepatosplenomegaly, Anisopoikilocytosis, Intrahepatic cholestasis, Ambiguous genitalia, male, Ost... OMIM:607330
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Reduced bone mineral density, Neonatal cholestatic liver dis... ORPHA:1414
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Elevated circulating C... OMIM:616050
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Cardiomyopathy, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Sp... OMIM:619046
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Osteoporosis, Hepatomega... ORPHA:79301
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Cholestatic liver disease, Ventricular septal defect, Atrial septal defect, Conjugated ... OMIM:208085
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Atrial septal defect, Elevated circulating long chain fatty ac... OMIM:614886
Wilson Disease
Hepatocellular carcinoma, Jaundice, Atypical or prolonged hepatitis, Hemolytic anemia, Anemia, Hy... OMIM:277900
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Exocrine pancreatic insufficiency, Anemia, Steatorrhea, Hepatome... OMIM:557000
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Fulminant hepatitis, Thrombocyt... OMIM:308240
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Abnormal natural killer cell count,... ORPHA:158061
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy, Pancytopenia, Splenome... ORPHA:79477
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Hypercholesterolemia, Bo... OMIM:278000
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Abnormal circulating fatty-acid concentration, Conjugat... ORPHA:567983
Caroli Disease
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Hepati... ORPHA:53035
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Elevated red c... OMIM:300946
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Osteoporosis, Cardiomyopathy, Hepatomegaly, Cirrhos... OMIM:235200
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Amed Syndrome, Digenic
Leukopenia, Anemia, Bone marrow hypocellularity, Hypoplasia of the uterus, Thrombocytopenia, Acut... OMIM:619151
Fish-Eye Disease
Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co... ORPHA:54251
Graft Versus Host Disease
Hepatosplenomegaly, Acute hepatitis, Jaundice, Hemophagocytosis, Chronic hepatitis, Hyperbilirubi... ORPHA:39812
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Cholelithiasis OMIM:605479
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:610333
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Abnormality of the liver, Hepatomegaly, Conjugated hyperbili... ORPHA:234
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Hepatocellular carcinoma, Jaundice, Extramedullary hematopoiesi... ORPHA:231226
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ... ORPHA:2137
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, B lymphocytopenia, Abnormal CD4:CD8 ratio, Lymphadenopathy, Spleno... OMIM:150550
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosino... OMIM:603554
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Polycythemia, Liver abscess, Anemia,... ORPHA:88673
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Beta-Thalassemia Major
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Anisopoikilocytosis, Extramedullary hemat... ORPHA:231214
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cirrhosis, Splenomegaly, Reduced serum alpha-1-antitrypsin OMIM:613490
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Decreased serum bile acid co... OMIM:214950
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Congenital Erythropoietic Porphyria
Anisocytosis, Reduced haptoglobin level, Osteolysis, Reticulocytosis, Leukopenia, Hemolytic anemi... ORPHA:79277
Wolman Disease
Bone-marrow foam cells, Anemia, Steatorrhea, Hepatomegaly, Splenomegaly, Ascites ORPHA:75233
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Leukopenia, Ventricular septal defect, Hepatomegaly, Lymphopenia, S... OMIM:620210
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Congenital thrombocytopenia, Lymphadenitis, Increased circulating ferritin ... OMIM:618886
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Jaundice, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Stomat... ORPHA:168577
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Jaundice, Leukopenia, Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:108
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Prolonged neonatal... ORPHA:95717
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprot... OMIM:207750
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:618838
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoal... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoal... ORPHA:529799
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231000
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Persistence of hemoglobin F... OMIM:612561
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Abnormality of the liver, Osteolysis involving bones of the lower limbs, Abnormal hea... ORPHA:464321
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Ambiguous genitalia, Micropenis, Scrotal hypospadias, Bifid scrotum, Male pseu... OMIM:250790
Liver Failure, Infantile, Transient
Jaundice, Hepatomegaly, Hyperbilirubinemia, Microvesicular hepatic steatosis, Macrovesicular hepa... OMIM:613070
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Anemia, Hepatomegaly, Calvarial osteosclerosis,... OMIM:259700
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... OMIM:615122
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Leukopenia, Abnormality of neutrophils, Bone ... ORPHA:381
Senior-Boichis Syndrome
Hepatosplenomegaly, Anemia, Cholestasis, Congenital hepatic fibrosis, Hepatic fibrosis, Cirrhosis... ORPHA:84081
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Cholestatic liver disease, Ventricular septal defect, Hepatomegaly, Conjugated hyperbil... OMIM:613404
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Leukopenia, Biliary tract obstruction, Anemia, Hepato... ORPHA:77259
Reynolds Syndrome
Jaundice, Cholestasis, Steatorrhea, Hepatomegaly, Lymphopenia, Hyperbilirubinemia, Biliary cirrho... OMIM:613471
Cinca Syndrome
Reduced bone mineral density, Leukocytosis, Anemia, Abnormal granulocyte morphology, Abnormality ... ORPHA:1451
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Osteoporosis, Hepatomegaly, Prolonged neonatal jaundice, Microcytic anemi... OMIM:257200
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Isolated Biliary Atresia
Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Prolonged neon... ORPHA:30391
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Ventricular septal defect, Clitoral hypertrophy, Atrial septal defect... OMIM:606003
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration, Bilateral cryptorchidism, Intrahepat... OMIM:619685
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Anemia, Increased proportion of e... OMIM:619824
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Hyperbilirubinemia OMIM:301094
Congenital Rubella Syndrome
Jaundice, Anemia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Thrombocytopenia... ORPHA:290
Fanconi-Bickel Syndrome
Rickets, Hypophosphatemia, Intrahepatic cholestasis, Hypouricemia, Hypergalactosemia, Hepatomegal... OMIM:227810
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Hardikar Syndrome
Atrial septal defect, Ventricular septal defect, Cholestasis, Hepatomegaly, Prolonged neonatal ja... OMIM:301068
Chylomicron Retention Disease
Steatorrhea, Increased hepatocellular lipid droplets, Acanthocytosis, Hypertriglyceridemia, Hepat... ORPHA:71
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... OMIM:619463
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Classic Hodgkin Lymphoma
Osteolysis, Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:391
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Abnormal circulating lipid concentration, Leukocytosis,... ORPHA:829
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli... OMIM:603903
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Myelofibrosis, Acute leukemia ORPHA:3318
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Hypoalbuminemia ORPHA:88643
Neuraminidase Deficiency
Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Epiphyseal stipplin... OMIM:256550
Neonatal Lupus Erythematosus
Aplastic anemia, Hemolytic anemia, Anemia, Cholestasis, Abnormality of the liver, Hepatomegaly, A... ORPHA:398124
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Pancreatitis, Hypo... ORPHA:90038
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Micropenis, Anemia, Ventricular septal defect, Atrial septal defect, Hyperbilirub... ORPHA:163979
Felty Syndrome
Osteolysis, Anemia, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Hepatomegaly, Th... ORPHA:47612
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly, Abnormality of the tonsils, Spleno... ORPHA:93476
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Hepatomegaly, Hypoch... OMIM:266510
Liver Disease, Severe Congenital
Peritonitis, Ventricular septal defect, Elevated circulating alpha-fetoprotein concentration, Atr... OMIM:619991
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Decreased plasma free carnitine, Enlarged kidney, Elevated circulating long chain... OMIM:608836
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Elevated circulating phytanic acid concentration, Cryptorchidism, Jaundice, I... OMIM:614866
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Hypercholesterolemia, Hepatocellular adenoma, Cholestasis, Polycystic o... ORPHA:370
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ... OMIM:205400
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi... ORPHA:85414
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia... ORPHA:276
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatocellular adenoma, Anemia, Cholestasis, Polycystic ovaries, Osteoporos... ORPHA:264580
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Conjugated hyperbilirubinemia ORPHA:95715
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona... ORPHA:95716
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Jaundice, Hypercholesterolemia, Pancreatitis, Hyperlipidemia, Increased circu... OMIM:238600
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Osteolytic defects of the phalanges of the ... OMIM:228000
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Gaisböck Syndrome
Increased red blood cell count, Increased circulating renin level, Increased mean corpuscular hem... ORPHA:90041
Fumarase Deficiency
Polycythemia, Intrahepatic cholestasis, Perimembranous ventricular septal defect, Hyperbilirubine... OMIM:606812
Erythrocytosis, Familial, 2
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:263400
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic acid concentration, ... OMIM:618156
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelofibrosis, Abnormal number of alpha granules OMIM:139090
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenopathy, Splen... OMIM:617591
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Myelofibrosis, Acute myelomonocytic leu... ORPHA:86843
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Lymphadeni... OMIM:618935
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia... ORPHA:540
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hyperproteinemia, Hepatomegaly, Hypertriglyceridemia, Abnormal natural ... ORPHA:158048
Tempi Syndrome
Increased hematocrit, Polycythemia, Ascites ORPHA:284227
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Hypercholesterolemia, Hepatocellular adenoma, Anemia, Polycystic ovarie... ORPHA:79240
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Cirrhosis, Conjug... OMIM:617049
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Neonatal hyperbilirubinemia, Hypogonadism ORPHA:73272
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis, Decreased circulating cortisol level OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Intrahepatic cholestasis, Conjugated hyperbilirubinemia OMIM:619484
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Cryptorchidism OMIM:619075
Attrv122I Amyloidosis
Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Increased circulating NT-proBNP concen... ORPHA:85451
Peroxisome Biogenesis Disorder 13A (Zellweger)
Jaundice, Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasi... OMIM:614887
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... OMIM:615947
Gaucher Disease, Type I
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Pancytopenia, Aortic valve stenosis, Splen... OMIM:230800
Fetal Gaucher Disease
Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Cholestasis, Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Cirrh... OMIM:617156
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Anemia, Steatorrhea, Persistence of hemoglobin F, Neutropenia,... OMIM:260400
Mcleod Syndrome
Reduced haptoglobin level, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase con... OMIM:300842
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Splenomegaly, Increased h... OMIM:613027
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Hyperbilirubinemia, Increased serum bile acid concentration, Cholecystitis, Abnormality... ORPHA:69665
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Thin bony cortex, Reduced bone mineral density, Anemia, Cholestasis, Bile duct prolifera... OMIM:613658
Omenn Syndrome
Leukocytosis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Eosinophilia, Lymphadenopathy... ORPHA:39041
Myeloproliferative disorder, Splenomegaly, Myelofibrosis OMIM:254450
Joubert Syndrome 33
Splenomegaly OMIM:617767
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly OMIM:619183
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Dense calvaria, Cardiomegaly, Splenomegaly OMIM:252920
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids, Ven... OMIM:619769
Degcags Syndrome
Dysplastic pulmonary valve, Ambiguous genitalia, Abnormal spleen morphology, Cholestasis, Ventric... OMIM:619488
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Hepatomegaly, Osteopenia, Periostitis, Elevated circulating C-reactive protein concen... OMIM:612852
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Microcytic anemia, Hypospadias ORPHA:98791
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa... OMIM:616100
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Abetalipoproteinemia, E... ORPHA:96180
Primary Biliary Cholangitis
Hepatocellular carcinoma, Abnormal circulating lipid concentration, Jaundice, Osteoporosis, Hepat... ORPHA:186
Cranioectodermal Dysplasia 2
Cholangitis, Craniosynostosis, Left ventricular hypertrophy, Cholestasis, Atrial septal defect, B... OMIM:613610
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Elevated transferrin saturation, Testicular atrophy, Osteoporosis, Card... ORPHA:465508
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Leukocytosis, Anemia, Cholestasis, Cardiomyopathy, Hepatic fibrosis, Hepatomegal... OMIM:615895
Wilson Disease
Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Cirrhosis, Hepatitis, Thrombocytopenia, Hepatic ... ORPHA:905
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Biliary atresia, Ascites, Absent gallblad... OMIM:615710
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hepatomegaly, Hydrocele testis, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly ORPHA:169090
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Osteopenia, Hypergonadotropic hypogo... OMIM:212065
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Osteolysis, Enlarged kidney, Anemia, Abnormal spleen morphology, Abnormal lym... ORPHA:464329
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Jaundice, Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Incre... ORPHA:447
Fructose-1,6-Bisphosphatase Deficiency
Hyperuricemia, Hyperalaninemia, Hepatomegaly, Hepatic steatosis, Neonatal hyperbilirubinemia ORPHA:348
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Cryptorchidism, Micropenis, Ventricular septal defect, Hepat... ORPHA:1655
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, T lymphocytopenia, B lymphocytopenia, Co... OMIM:300755
Ogden Syndrome
Secundum atrial septal defect, Decreased testicular size, Cryptorchidism, Jaundice, Polycythemia,... OMIM:300855
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Hepatomegaly, Elevated plasma citrulline, Inc... ORPHA:3008
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Hepatomegaly, Chylopericardium, Splenomegaly, Ascites ORPHA:2414
Primary Lipodystrophy
Polycystic ovaries, Pancreatitis, Cardiomyopathy, Cirrhosis, Hyperlipidemia, Hepatic steatosis, S... ORPHA:90970
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Thrombocytopenia, Increased mean platelet volume, Splenomegaly OMIM:153670
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Reduced bone mineral density, Cryptorchidism, Aplastic anemia,... OMIM:617052
Potocki-Lupski Syndrome
Hypocholesterolemia, Patent foramen ovale, Atrial septal defect OMIM:610883
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Hypertro... ORPHA:2348
Majeed Syndrome
Increased bone mineral density, Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congen... ORPHA:77297
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Jaundice, Hyperammonemia, Intrahepatic cholestasis, Hepatic fibrosis, Conjugated hyperbilirubinem... OMIM:617093
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Hepatomegaly, Cirrhosis, Hepatitis, Thrombocytopenia, Sclero... OMIM:308230
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive pro... OMIM:617388
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Polycystic ovaries, Pancreatitis, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, H... ORPHA:79083
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Anemia, Hepatomegaly, Abnormal heart valve morphology... ORPHA:77261
Multiple Myeloma
Anemia, Hyperproteinemia, Osteopenia, Lymphadenopathy, Splenomegaly, Hypercalcemia, Elevated circ... ORPHA:29073
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Secundum atrial septal defect, Ventricular septal defect, Cholestasis, At... OMIM:619534
Leydig Cell Hypoplasia
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... ORPHA:755
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Adams-Oliver Syndrome 6
Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus, Splenomegaly OMIM:616589
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Micropenis, Ventricular septal defect, Tetralogy of Fallot, Neutropenia, Double o... ORPHA:163956
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Patent foramen ovale ORPHA:293939
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Impaired... OMIM:214500
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Ambiguous genitalia, Enlarged kidney, Ventricular septal defect, Atrial s... OMIM:618280
Mixed Connective Tissue Disease
Myocarditis, Osteolysis, Leukopenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Mediastinal... ORPHA:809
Osteopetrosis, Autosomal Recessive 7
Anemia, Hypocalcemic seizures, Hepatomegaly, Abnormal trabecular bone morphology, Osteopetrosis, ... OMIM:612301
Prolidase Deficiency
Anemia, Hepatomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly OMIM:170100
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Anemia, Hepatomegaly, Splenomegaly, Calcinosis OMIM:239200
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Infantile Liver Failure Syndrome 3
Jaundice, Hyperammonemia, Cholestasis, Hepatic bridging fibrosis, Hepatomegaly, Hepatic steatosis... OMIM:618641
8P11.2 Deletion Syndrome
Cryptorchidism, Hemolytic anemia, Hypogonadism, Atrial septal defect, Hypoplasia of penis, Azoosp... ORPHA:251066
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Cryptorchidism, Micropenis, Biventricular hypertrophy, Muscular ventricular septal defect, Thromb... ORPHA:79324
Lead Poisoning
Abnormal sperm morphology, Increased LDL cholesterol concentration, Anemia, Decreased HDL cholest... ORPHA:330015
Legionnaires Disease
Myocarditis, Jaundice, Endocarditis, Pancreatitis, Bone marrow hypocellularity, Lymphopenia, Sple... ORPHA:549
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossification, Abnormal circulati... ORPHA:90674
Gaucher Disease, Type Iiic
Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos... OMIM:231005
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Increased circulating... ORPHA:168558
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Lipodystrophy, Congenital Generalized, Type 2
Labial hypertrophy, Polycystic ovaries, Clitoral hypertrophy, Hepatomegaly, Cirrhosis, Cystic ang... OMIM:269700
Immunodeficiency 47
Leukopenia, Normocytic anemia, Hypercholesterolemia, Cholestasis, Hepatic bridging fibrosis, Decr... OMIM:300972
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Increased circulating... ORPHA:289548
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Polycyt... ORPHA:309854
Mirizzi Syndrome
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Cholester... ORPHA:521219
Lysinuric Protein Intolerance
Hyperammonemia, Leukopenia, Hemophagocytosis, Anemia, Pancreatitis, Osteoporosis, Hepatomegaly, T... OMIM:222700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interface hepatitis, Cholestatic liver disease, Granulomatous cholangitis, Cholestasis, Abnormali... ORPHA:562639
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Secundum atrial septal defect, Cryptorchidism, Inte... OMIM:612541
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Sideroblastic anemia, B lymphocytopenia, Hypochromic microcytic anemia, Splenomeg... OMIM:616084
Sclerosing Cholangitis, Neonatal