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Gene: Padi4 MGI:1338898

Gene Summary

Name:

peptidyl arginine deiminase, type IV

Synonyms:

Pdi4, PAD type IV, Pad4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
small heart	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased mean corpuscular hemoglobin	Padi4^em1(IMPC)Mbp	HOM	Late adult	9.63×10^-05
increased circulating triglyceride level	Padi4^em1(IMPC)Mbp	HOM	Early adult	6.41×10^-05
increased mean corpuscular volume	Padi4^em1(IMPC)Mbp	HOM	Late adult	1.89×10^-05
enlarged heart	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged liver	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating bilirubin level	Padi4^em1(IMPC)Mbp	HOM	Late adult	4.35×10^-05
abnormal lymph node morphology	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal uterus morphology	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged kidney	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased circulating cholesterol level	Padi4^em1(IMPC)Mbp	HOM	Late adult	3.83×10^-05
small liver	Padi4^em1(IMPC)Mbp	HOM	Late adult	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

37 Images

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XRay Images Whole Body Dorso Ventral

30 Images

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10 Images

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Human diseases caused by Padi4 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.

Human diseases associated with Padi4 (0 diseases)
Human diseases predicted to be associated with Padi4 (1337 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Padi4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Myelolymphatic Insufficiency	Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr...	OMIM:310350
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, BCGitis, Impaired oxidative burst	OMIM:619549
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ...	OMIM:242870
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ...	OMIM:613495
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop...	OMIM:616022
Immunodeficiency 35	Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ...	OMIM:611521
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr...	OMIM:614372
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p...	OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe...	OMIM:613501
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunodeficiency 61	Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre...	OMIM:300310
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ...	OMIM:613493
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency 116	Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu...	OMIM:608957
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Immunodeficiency 112	BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell...	OMIM:620449
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig...	OMIM:608106
Immunodeficiency 84	Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in...	OMIM:619437
Immunodeficiency 38 With Basal Ganglia Calcification	Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:616126
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem...	OMIM:616873
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf...	OMIM:619374
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Ficolin 3 Deficiency	Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat...	OMIM:613860
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia	OMIM:300299
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr...	OMIM:612692
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Multiple renal cysts, Abnormal...	ORPHA:2924
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni...	OMIM:300636
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal...	ORPHA:79234
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Rotor Syndrome	Jaundice, Hyperbilirubinemia, Porphyrinuria, Intermittent jaundice, Conjugated hyperbilirubinemia...	ORPHA:3111
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Increas...	ORPHA:890
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Extramedullary he...	OMIM:617021
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Malaria	Acute kidney injury, Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubi...	ORPHA:673
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g...	OMIM:608184
Immunodeficiency 32B	BCGitis, Anemia, Recurrent infections, Monocytopenia, Abnormal circulating IgG level, Neutrophili...	OMIM:226990
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Adult Idiopathic Neutropenia	Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia...	ORPHA:2688
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen...	OMIM:235555
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator...	OMIM:193670
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Immunodeficiency 108 With Autoinflammation	Recurrent abscess formation, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,...	OMIM:607594
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233710
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir...	ORPHA:169079
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia	OMIM:237500
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Renal cyst, Polycystic liver disease	OMIM:174050
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho...	ORPHA:231222
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Bronchiolitis, Recurrent otitis media	OMIM:266265
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:98870
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi...	OMIM:613812
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Persistent EBV...	OMIM:614868
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:79303
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Distal renal tubular acidosis, Hypokalemia, Reticulocytosis, Nephrocalcinosis, Hepat...	OMIM:611590
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Tyrosinemia, Type I	Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit...	OMIM:276700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:233690
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Senior-Boichis Syndrome	Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,...	ORPHA:84081
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu...	OMIM:240500
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus...	ORPHA:2169
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Complete or near-complete absence of specific ...	OMIM:607676
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Crigler-Najjar Syndrome, Type Ii	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:606785
Bare Lymphocyte Syndrome, Type Ii	Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i...	OMIM:209920
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Recurrent infections, B lymphocytopenia, Post-vaccination polio, Agammagl...	OMIM:616941
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD...	OMIM:615703
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H...	OMIM:608836
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin...	OMIM:619256
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Hypertrophic cardiomyopa...	OMIM:617303
Wolcott-Rallison Syndrome	Jaundice, Hepatomegaly, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati...	OMIM:605814
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ...	OMIM:618986
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Hypocholesterolemia, Pericardial effusion, Sp...	OMIM:608776
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin...	OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Elevated circulating C...	ORPHA:160
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, E...	OMIM:232220
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, T lymphocytopenia, Neutrope...	ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Recurrent opportunistic infectio...	ORPHA:276
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Nephronophthisis 2	Hyperkalemia, Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstiti...	OMIM:602088
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia...	ORPHA:300298
Caroli Syndrome	Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrahepatic bile d...	ORPHA:480520
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ...	ORPHA:234
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my...	OMIM:614172
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology	ORPHA:3319
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia...	OMIM:614300
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, S...	OMIM:602390
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever...	ORPHA:319552
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul...	ORPHA:54251
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased circulating IgG...	ORPHA:275
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis	OMIM:613779
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Increased...	ORPHA:98813
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Galactosemia Iv	Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia	OMIM:618881
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic kidneys, Ambig...	OMIM:613885
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Immunodeficiency 115 With Autoinflammation	Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc...	OMIM:620632
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy...	OMIM:618280
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Homocystinuria, Increased mean corpuscular volume, Hyperhomocystinemia, M...	OMIM:277410
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Glycogen Storage Disease Vii	Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Hyperuricemia, Elevated circ...	OMIM:232800
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit...	ORPHA:231214
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me...	ORPHA:231226
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac...	OMIM:601495
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio...	ORPHA:85450
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated circula...	OMIM:613070
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio...	OMIM:143500
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:613280
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,...	OMIM:616005
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Secundum atrial sept...	OMIM:612562
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc...	OMIM:306400
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal...	ORPHA:79312
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Complement Factor B Deficiency	Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections	OMIM:615561
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Re...	OMIM:612783
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, D...	ORPHA:168569
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Increased tota...	OMIM:616299
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg...	OMIM:278000
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Hypogonadism, Micropenis, Neonatal hyperbilirubinemia, Cryptorchidism	ORPHA:3363
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Renal hypoplasia/aplasia, Abnormal vagina morphology, Ascites, Thrombocytop...	ORPHA:2123
Galactosemia I	Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega...	OMIM:230400
Isolated Biliary Atresia	Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he...	ORPHA:30391
Glycogen Storage Disease Ia	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, E...	OMIM:232200
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
T-Cell Immunodeficiency With Thymic Aplasia	Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i...	ORPHA:83471
Relapsing Fever	Acute kidney injury, Jaundice, Anemia, Hematuria, Elevated circulating hepatic transaminase conce...	ORPHA:91547
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Splenome...	OMIM:308230
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sepsis, Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level,...	OMIM:243700
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Micropenis, Hydrocele testis	OMIM:618810
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Recurrent tonsillitis, Recurrent infections, Onychomycosis, Granuloma, Recurren...	OMIM:618935
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Elev...	OMIM:614886
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel...	ORPHA:911
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic...	ORPHA:369
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg...	OMIM:619064
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Cog7-Cdg	Abnormality of the kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:79333
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Hyperalaninemia, Elevated circulating alanine aminotransfe...	OMIM:619048
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Elevated circulating...	OMIM:266510
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Decreased circulating carnitine concentration, Microvesicula...	OMIM:212140
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fi...	ORPHA:79259
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent ear infections, Acute lymphoblastic leukemia, ...	ORPHA:486
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Renal ins...	ORPHA:713
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B...	ORPHA:505248
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Thro...	ORPHA:124
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Specific Granule Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil ...	OMIM:617475
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Ambiguous genitalia, male, Intrahepatic cholestasis, H...	OMIM:607330
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	OMIM:615558
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614876
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ...	OMIM:277900
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Hepatomegaly, Anemia, Renal insufficiency	ORPHA:28
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic ...	OMIM:557000
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Immunodeficiency 27B	Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections	OMIM:615978
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased...	OMIM:300291
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Generalized amin...	OMIM:227810
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Neoplasm of ...	ORPHA:69077
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Steator...	ORPHA:14
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti...	OMIM:601775
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Squalene Synthase Deficiency	Hypospadias, Increased circulating farnesol concentration, Elevated urine mesaconic acid level, E...	OMIM:618156
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubu...	OMIM:212065
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Elevated transferrin saturation, Increased circu...	OMIM:606069
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular hypertrophy, C...	OMIM:232400
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c...	OMIM:619685
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem...	OMIM:259720
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Protein...	ORPHA:251004
Kerion Celsi	Lymphadenopathy	ORPHA:499
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur...	ORPHA:331235
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator...	ORPHA:186
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Recurrent infections, Recurrent systemic pyogenic infections, Recurrent...	OMIM:214500
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Dicarboxylic aciduria, Intrahepat...	OMIM:614887
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Decreas...	OMIM:201475
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Propionic Acidemia	Organic aciduria, Hyperammonemia, Hepatomegaly, Cardiomyopathy	ORPHA:35
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Alaninuria, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Leukopenia...	ORPHA:27
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan...	OMIM:613470
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Duplicated collecting system, Eleva...	OMIM:617093
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries	ORPHA:90301
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Cardiomyopathy, Hyperlipidemia...	ORPHA:228308
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenomegaly, Hyper...	OMIM:619046
Reynolds Syndrome	Steatorrhea, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cal...	OMIM:613471
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Hypertriglyceridemia, Jaundice, Hepatomegaly...	ORPHA:540
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Hypospadi...	OMIM:614866
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans...	ORPHA:42
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M...	OMIM:617156
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia, Dilated cardiomyopathy, Vent...	ORPHA:261250
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Recurrent vi...	OMIM:618048
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Pa...	OMIM:606003
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Atrioventricular canal defect, Hep...	ORPHA:97214
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia...	OMIM:314390
Potocki-Lupski Syndrome	Atrial septal defect, Patent foramen ovale, Abnormal renal morphology, Hypocholesterolemia	OMIM:610883
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Hemolytic-uremic syndrome, Elevated circulating creatine kinase concentration, Elev...	OMIM:614727
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Increased hepatocellular li...	ORPHA:71
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal...	ORPHA:116
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Elevat...	OMIM:617872
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Ventricu...	OMIM:620210
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia, Hepatic failure	ORPHA:664
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Hyperammonemia, Thrombocytopenia, ...	ORPHA:289916
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant...	OMIM:606367
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cardiomyopath...	ORPHA:465508
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Thrombocytosis, Macrocytic anemia, Increased mean...	OMIM:105650
Galactokinase Deficiency	Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic hypog...	ORPHA:79237
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Combined Immunodeficiency Due To Crac Channel Dysfunction	Sepsis, Recurrent viral infections, Thrombocytopenia, Splenomegaly, Recurrent mycobacterial infec...	ORPHA:169090
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Elevated circulating creatinine con...	OMIM:613095
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Chédiak-Higashi Syndrome	Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura...	ORPHA:167
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent otitis media, Pyoderma, Panhypogammaglobulinemia, Recurrent urinary tract infections, M...	OMIM:307200
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Conjugated hyp...	OMIM:619484
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:300842
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Hypera...	OMIM:617049
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Hepatomegaly, Renal cyst	OMIM:614870
Rh-Null, Regulator Type	Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:2394
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Ventricular septal defect, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Leukocyte Adhesion Deficiency, Type I	Recurrent infections, Rectal abscess, Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent ...	OMIM:116920
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Abnormal left ventricular outflow tract morp...	ORPHA:79328
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ...	OMIM:618838
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Hepatitis, ...	ORPHA:549
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly...	ORPHA:443811
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal morphology, Pancre...	ORPHA:1655
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Congenital Rubella Syndrome	Jaundice, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular...	ORPHA:290
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis, Hypergalactosemia	ORPHA:570422
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the kidney, Hyperbilirubinemia, Ascites, Hypertrophic cardiomyopathy, Abnormal hea...	ORPHA:464321
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Ventricular...	ORPHA:228305
Fumarase Deficiency	Perimembranous ventricular septal defect, Intrahepatic cholestasis, Bilateral fetal pyelectasis, ...	OMIM:606812
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Sepsis, Liver abscess, Recurrent otitis media, Pulmonary tuberculosis, Recurrent tonsillitis, Rec...	ORPHA:183675
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Recurrent bacterial infe...	OMIM:102700
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Argininuria, Elevated circulating hepatic transaminase concent...	ORPHA:470
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ...	OMIM:252500
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Recurrent bacterial ...	OMIM:603585
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Cryptorchidism, Hydronephrosis, Thrombocyt...	ORPHA:163979
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia	OMIM:603471
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep...	OMIM:620454
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Complement Component 5 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:609536
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Hyperalaninemia, Hypertrophic cardiomyopathy, Elevated circul...	OMIM:614582
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Immunodeficiency 12	Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Complete or near-com...	OMIM:615468
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hypokalemia, Long penis, Hypercalciuria, Hyp...	ORPHA:508
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Sialidosis Type 2	Ascites, Hepatomegaly, Nephropathy, Splenomegaly	ORPHA:87876
Attrv30M Amyloidosis	Cardiomegaly, Nephropathy, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Decreased HDL cholester...	ORPHA:77259
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis...	ORPHA:57777
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Increased u...	ORPHA:348
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc...	ORPHA:69665
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Hypocholes...	OMIM:270400
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micropenis, Cryptorchidism...	OMIM:613861
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Steatorrhea, Proximal tubulopathy, Renal cyst, Hypoalb...	OMIM:602579
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Stomat...	ORPHA:168577
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis, Hepatic artery hyperplasia,...	OMIM:619433
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma	OMIM:253250
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Abnormal aortic valve morphology, Hepatom...	ORPHA:1194
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen...	OMIM:620642
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Azoospermia, Retroperitoneal fibrosis, Pancreatic hypoplasia, Hype...	OMIM:602782
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Ascites, Pericarditis, Left ventricular ...	OMIM:619487
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:79240
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613561
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans...	ORPHA:781
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:229600
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic an...	OMIM:619488
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Cardiomegaly, Bicuspid aortic valve, Perimembranous ven...	OMIM:300855
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa...	OMIM:614859
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Mirizzi Syndrome	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	ORPHA:521219
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly	OMIM:615637
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Hepatomegaly, Anemia,...	OMIM:251110
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria	OMIM:614741
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Card...	OMIM:614702
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90036
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Decreased circulating cortisol level, Cholestasis	OMIM:609734
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Abnormality of the liver, Hepatomegaly, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Decre...	OMIM:500009
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Glomerulopathy, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Sp...	ORPHA:2348
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated c...	OMIM:617713
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Recurrent respiratory infections, Increased circulating IgE level, I...	OMIM:620565
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly	ORPHA:834
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Reticulocytosis, Unconjugat...	ORPHA:90038
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Cardiomyopathy, Hyperammonem...	OMIM:251000
Scrub Typhus	Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Myopathy With Extrapyramidal Signs	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypervalinemia, Leukocytos...	OMIM:615673
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ...	OMIM:615947
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
Microphthalmia, Syndromic 9	Renal malrotation, Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arterio...	OMIM:601186
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest...	OMIM:608104
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,...	OMIM:615438
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertrophic cardiomy...	ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria	OMIM:204000
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Ziegler-Huang Syndrome	Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Hypogonadism, Crypto...	OMIM:620501
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia,...	ORPHA:542323
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Polycystic kidney ...	OMIM:214110
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Dec...	ORPHA:96180
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy, Renal hy...	ORPHA:254913
Alg12-Cdg	Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:79324
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Elevated circulating creatine ...	OMIM:619424
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Propionic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Increased level of hippuric acid in urine, Pancytopenia, Hype...	OMIM:606054
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Tr...	ORPHA:156
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Paroxysmal Nocturnal Hemoglobinuria	Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Unconjugated hyperbilirub...	ORPHA:447
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica...	OMIM:604273
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hyperalaninemia, Proximal renal tubular acidosis	OMIM:266150
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transamin...	OMIM:260400
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ...	ORPHA:79277
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Polycystic liver disease, Nep...	OMIM:208500
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Dextrocardia, Methylmalonic acidemia, Pancytopenia, Cystathioninuria, Homoc...	OMIM:277380
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hypoglutaminemia, Hyperglutamatemia, I...	ORPHA:3008
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Cryptorchidism...	OMIM:235255
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Renal amyloidosis, Nephropathy	ORPHA:575
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop...	ORPHA:319487
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Hyperammonemia, Secundum atrial sept...	OMIM:620609
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Al Amyloidosis	Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Increased c...	ORPHA:85443
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Clitoral hypertrophy, Precoc...	ORPHA:528
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Recurrent ...	OMIM:608233
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Prolidase Deficiency	Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu...	ORPHA:139402
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu...	OMIM:610984
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcin...	OMIM:300755
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased total ...	ORPHA:309854
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat...	ORPHA:79332
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Hyp...	ORPHA:29073
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Spl...	OMIM:239200
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Leukocyte Adhesion Deficiency	Perianal abscess, Chronic oral candidiasis, Sepsis, Acute myeloid leukemia, Recurrent tonsillitis...	ORPHA:2968
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Thrombocytosis, Polycystic kidney dyspl...	ORPHA:84064
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tra...	ORPHA:500095
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Neonatal hyperbili...	ORPHA:95716
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Increased C-pept...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic...	ORPHA:276575
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Ventricular septal hypertrophy, Hepatomegaly, Elevated circulati...	OMIM:269700
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Ascites, Nephrotic syndrome, Peric...	ORPHA:93552
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Refsum Disease, Classic	Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph...	OMIM:266500
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Thrombocytopenia, Left ventricular...	ORPHA:79330
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Trichohepatoenteric Syndrome 1	Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, I...	OMIM:222470
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Chylous ascites, Secondary hyperaldost...	ORPHA:90363
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly, ...	OMIM:608013
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Ascit...	OMIM:226300
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia	OMIM:609727
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Hypercalcemia,...	OMIM:618440
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria,...	ORPHA:77297
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Abnormality of the lower urinary tract	ORPHA:101009
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno...	ORPHA:2905
Immunodeficiency 102	Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De...	OMIM:301082
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Renal steatosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentra...	OMIM:261680
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content...	ORPHA:2088
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Red...	ORPHA:60
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria	OMIM:619053
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Portal vein thrombosis, Spleno...	OMIM:616028
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration...	OMIM:614376
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Cryptorchidism	OMIM:619075
Argininemia	Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Oroticaciduria, Cholestasis...	OMIM:207800
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Fucosidosis	Cardiomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:26791
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Elevated circulating ribi...	ORPHA:488618
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,...	ORPHA:565612
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co...	ORPHA:33402
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Hepatomegaly, Anemia, Methylmaloni...	OMIM:251100
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Klippel-Trénaunay Syndrome	Hepatomegaly, Hematuria, Abnormal tricuspid valve morphology, Ascites, Atrial septal defect, Micr...	ORPHA:90308
Brucellosis	Myocarditis, Abnormal aortic valve morphology, Liver abscess, Anemia, Hepatomegaly, Lymphadenopat...	ORPHA:1304
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Transposition of the great arteries, Hepatomegaly, Hypospadias, Cardiomyopathy, ...	OMIM:312870
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252930
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Chronic oral candidiasis, B lymphocytopenia, Recurrent urinary t...	ORPHA:221139
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal...	OMIM:614922
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase conce...	OMIM:605911
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Cryptorchidism, Mitral stenosis, Tetral...	ORPHA:163956
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatos...	OMIM:619573
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat...	OMIM:613658
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Abnormal concentration of acylcarnitin...	ORPHA:391428
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Neurooculorenal Syndrome	Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Unilateral renal agenesis, Patent fora...	OMIM:620305
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Abnormality of the ureter	ORPHA:1133
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Mitral valve calc...	ORPHA:77261
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic cardiomyopath...	OMIM:230500
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ...	OMIM:610199
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, El...	ORPHA:308552
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,...	OMIM:275350
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Yellow Fever	Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Leukocytosis, Elev...	ORPHA:99829
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest...	ORPHA:412
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Juvenile Sialidosis Type 2	Abnormality of the kidney, Hepatomegaly, Visceromegaly, Abnormal heart morphology, Hepatosplenome...	ORPHA:93399
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Anemia, Renal tubular dysfunction, Hypertrophic cardiomyo...	ORPHA:436271
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ven...	OMIM:212138
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot, Axial ma...	ORPHA:3320
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve prolapse, Hypogonadis...	ORPHA:251066
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Polyc...	OMIM:231680
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Dec...	ORPHA:159
Distal Xq28 Microduplication Syndrome	Patent foramen ovale, Neonatal hyperbilirubinemia	ORPHA:293939
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of the uterus, Nephrotic sy...	OMIM:146255
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Whipple Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Pericarditis, Hyponatremia, Splen...	ORPHA:3452
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia,...	OMIM:250790
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypouricemia, Glycosuria, ...	OMIM:616026
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa...	ORPHA:79086
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Whim Syndrome	Sepsis, Decreased circulating antibody level, Abnormal neutrophil morphology, Recurrent pneumonia...	ORPHA:51636
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure, Abnormal pulmonary valve cu...	ORPHA:97287
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Hyperammonemia, Leukopenia,...	OMIM:222700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male...	OMIM:615381
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc	OMIM:201100
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Renal cyst	OMIM:614862
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Abnormal renal co...	OMIM:617397
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Ambiguous genital...	ORPHA:3376
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Neonatal hyperbilirubinemia	ORPHA:73272
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619313
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98855
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Hepatomegaly, Anemia, Increased level of hippuric acid in urine, Hyperuricemia...	OMIM:246450
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology...	OMIM:615873
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Hyperphosphaturia, G...	OMIM:220110
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Neuro...	OMIM:608779
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Elevated circulating creati...	ORPHA:435660
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Hypocholesterolemia, Atrial septal defect, Ventricular septal defect, Hypop...	OMIM:244450
Mirage Syndrome	Sepsis, Anemia, Recurrent urinary tract infections, Hypoplastic spleen, Thrombocytopenia, Leukope...	OMIM:617053
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis	ORPHA:79319
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein...	ORPHA:90051
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98863
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:261
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98853
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
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonatal hyperbili...	ORPHA:90674
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Card...	ORPHA:98907
Pagod Syndrome	Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermap...	ORPHA:991
Citrullinemia, Classic	Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Oroticaciduria, Hyperammonemia, Episodic amm...	OMIM:215700
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Cardiomyopathy, Leu...	ORPHA:289157
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Dermatan sulfate excretion in urine, Hepatosplenom...	OMIM:309900
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Vici Syndrome	Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocyto...	OMIM:242840
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Cryptorchidism, Microcytic anemia, Hypospadias	ORPHA:98791
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula...	ORPHA:100093
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi...	ORPHA:32960
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, Hypertrophic ca...	OMIM:615846
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Atrioventricular canal defect, Anemia, Ureteral duplication, Axial malrotation...	OMIM:274000
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system...	ORPHA:538
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl...	OMIM:601076
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Hepatomegaly, Myoglobinuria, Elevated circulating creatine kinase co...	OMIM:251900
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Meckel Syndrome 14	Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single...	OMIM:619879
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly	OMIM:612852
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration	OMIM:619423
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:26793
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles...	ORPHA:330015
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Biotinidase Deficiency	Hyperammonemia, Hepatomegaly, Organic aciduria, Splenomegaly	OMIM:253260
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Muscular ventricular septal defect, Polycystic kidney dysplasia, Patent foramen ovale, Hyperbilir...	OMIM:210710
Kenny-Caffey Syndrome, Type 1	Anemia, Recurrent bacterial infections	OMIM:244460
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Acute lymphoblastic leukemia, Hypocholesterolemia, Cryptorchidism	OMIM:223370
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G...	OMIM:273250
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Abnormal ...	ORPHA:322
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Hepatomegaly	ORPHA:422
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Hypocalcemia, Ascites, Pericardial effusion, Lymphangioma, Splen...	ORPHA:2136
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp...	ORPHA:168558
Hurler-Scheie Syndrome	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine	OMIM:607015
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia, Abnormal pul...	ORPHA:667
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ve...	OMIM:619167
Dengue Fever	Hepatomegaly, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia	ORPHA:99828
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuri...	ORPHA:20
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Hypertrophic cardiomyopathy, Aortic valve stenosis, Nephrotic ...	ORPHA:330001
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonatal hyperbil...	ORPHA:90673
Mucopolysaccharidosis Type 6	Mucopolysacchariduria, Abnormal heart valve morphology, Splenomegaly	ORPHA:583
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp...	ORPHA:289548
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep...	OMIM:617913
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Right ventric...	OMIM:620186
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Renal hypoplasia/aplasia, Rectovaginal fistula, Truncus arteriosus, Perineal fistul...	ORPHA:2538
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Methylmalonic acidemia, ...	OMIM:277400
Argininosuccinic Aciduria	Hepatomegaly, Oroticaciduria, Increased circulating argininosuccinic acid, Hyperammonemia, Episod...	OMIM:207900
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Jaundice, Hematuria, Hypospadias, Elevated circulating hepatic transaminase concentration, Abnorm...	OMIM:619475
Gaucher Disease	Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Pancytopenia, Splenic infarcti...	ORPHA:355
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Hypert...	ORPHA:280365
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Glandular hypospadias, Abnormal c...	OMIM:620306
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Coccidioidomycosis	Abnormality of the kidney, Abnormality of the female genitalia, Mediastinal lymphadenopathy, Panc...	ORPHA:228123
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Hypospad...	OMIM:301040
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Glycogen Storage Disease Ic	Xanthelasma, Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematuria,...	OMIM:232240
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Hypertrophic cardiomyopathy, Right atrial enlargement, Int...	ORPHA:75249
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Male ...	ORPHA:847
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Hypercalciuria, Biliary cirrhosis, Hepatosple...	OMIM:219700
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val...	ORPHA:2729
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Recurrent tonsillitis, Mucopolysacchariduria, Abn...	ORPHA:581
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Cystinosis, Nephropathic	Generalized aminoaciduria, Splenomegaly, Hypophosphatemia, Stage 5 chronic kidney disease, Reduce...	OMIM:219800
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration	ORPHA:444490
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin...	ORPHA:3260
Arima Syndrome	Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerstitial fibros...	OMIM:243910
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Pericarditis, Cellular urinary cast...	ORPHA:509
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal testis morphology, Bone marro...	ORPHA:1775
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Chops Syndrome	Patent foramen ovale, Vesicoureteral reflux, Anomalous pulmonary venous return, Cryptorchidism, S...	OMIM:616368
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Crimean-Congo Hemorrhagic Fever	Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Pancytopenia, Neutrophil...	ORPHA:99827
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Microcephaly 20, Primary, Autosomal Recessive	Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at...	OMIM:617914
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures, Hepatomegaly, Anemia, Splenomegaly	OMIM:612301
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Patent foramen ovale, Ascites, Renal hypoplasia, Splenomegaly,...	OMIM:269860
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo...	OMIM:614083
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:203800
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati...	OMIM:619525
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentr...	ORPHA:2331
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular...	ORPHA:268
Mannosidosis, Alpha B, Lysosomal	Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Recurrent bacterial i...	OMIM:248500
Alkaptonuria	Prostatitis, Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral v...	ORPHA:56
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Postinfectious Vasculitis	Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i...	ORPHA:48435
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ovarian neoplasm, Chronic ...	ORPHA:100079
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect	ORPHA:137675
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Anemia, Pancytopenia, Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Elevat...	ORPHA:2785
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru...	ORPHA:83628
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re...	ORPHA:75565
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia...	OMIM:151660
Blau Syndrome	Anemia, Lymphadenopathy, Pericarditis, Clear cell renal cell carcinoma, Splenomegaly, Abnormality...	ORPHA:90340
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem...	ORPHA:289390
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia...	ORPHA:469
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of t...	OMIM:616258
Thymoma	Aplastic anemia, Prostate neoplasm, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuke...	ORPHA:99867
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Primary Ciliary Dyskinesia	Recurrent otitis media, Asplenia, Recurrent mycobacterial infections, Recurrent sinopulmonary inf...	ORPHA:244
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anoperineal fistu...	OMIM:619381
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Prostatitis, Cholangitis, Abnormal pancreas morphology, Lymphadenopath...	ORPHA:449432
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, Exocrine pancreatic insuff...	OMIM:617941
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Behçet Disease	Glomerulopathy, Pancreatitis, Lymphadenopathy, Renal insufficiency, Pericarditis, Splenomegaly, A...	ORPHA:117
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr...	OMIM:620371
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Hydrolethalus Syndrome 1	Hypospadias, Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Bifid uterus, Ventricu...	OMIM:236680
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia ...	OMIM:618419
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Ureteropelvic junction obstruction, Neonatal hyperbilirubinemia, Vesicovagi...	OMIM:300896
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Pericardial effusion, Sp...	OMIM:181000
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia	ORPHA:275761
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, El...	ORPHA:365
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ureteral duplication, Hypospadias, Hydroureter, Hypoplasia of penis, Cardiomyopathy...	ORPHA:373
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Carney Triad	Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
Somatostatinoma	Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfun...	ORPHA:97283
Vipoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Hypokalemi...	ORPHA:97282
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Familial Thrombocytosis	Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypocalcemia, Truncus art...	OMIM:188400
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	ORPHA:98908
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia...	ORPHA:3132
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Mitral valve calcifica...	ORPHA:2072
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis	OMIM:616843
Camurati-Engelmann Disease	Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Hypogonadism, Urinar...	ORPHA:1328
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in...	ORPHA:90794
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardi...	ORPHA:97297
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosi...	ORPHA:904
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepati...	OMIM:619127
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Abnormal abdome...	ORPHA:97261
Glucagonoma	Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemi...	ORPHA:97280
Hepatoerythropoietic Porphyria	Red urine, Purple urine, Red-brown urine, Abnormal circulating porphyrin concentration, Splenomeg...	ORPHA:95159
Patent Urachus	Recurrent urinary tract infections, Recurrent gram-negative bacterial infections	ORPHA:431341
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Elevated serum 11-deoxycortisol, Hypokalemia, ...	OMIM:202010
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circ...	ORPHA:449563
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon...	ORPHA:432
Hennekam-Beemer Syndrome	Failure to thrive, Mastocytosis	ORPHA:2135
Satoyoshi Syndrome	Mildly elevated creatine kinase, Hypoplasia of the uterus	OMIM:600705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Biliary...	OMIM:194190
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Pericarditis, Hepatos...	ORPHA:3385
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly	OMIM:612132
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Cystic Fibrosis	Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec...	ORPHA:586
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia	OMIM:218700
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Increased circulating IgE l...	OMIM:147060
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Pericardi...	ORPHA:51608
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Alagille Syndrome 1	Hypertriglyceridemia, Hypercholesterolemia	OMIM:118450
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Cardiomyopathy, Renal artery stenosis, Cryptorchidism, Renovas...	ORPHA:3472
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy, Tubulointerstitial nephritis	ORPHA:79078
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos...	ORPHA:99889
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Plague	Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Hypospadias, Ectopic kidney, Aplasia of the uterus, Cryptorchi...	OMIM:135900
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper...	ORPHA:189427
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries	ORPHA:785
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hyp...	OMIM:241080
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia	ORPHA:1830
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Renal malrotation, Hypoplasia of the uterus	OMIM:615866
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:110
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hyperlipidemia, Hypoplasia of the fallopian t...	ORPHA:3464
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Elevated serum 11-deox...	OMIM:201750
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Pulmonic stenosis, ...	OMIM:261540
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of the uterus, Abnormal c...	ORPHA:709
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Renal agenesis, Bifid ...	OMIM:256520
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections	ORPHA:2273
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Uterine rupture, Abnormal heart valve morphology, Renovascular hyperten...	ORPHA:286
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Aplasia of the uterus...	OMIM:601803
Fabry Disease	Abnormal circulating lipid concentration, Hyperlipidemia	ORPHA:324
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Hereditary Sensory And Autonomic Neuropathy Type 4	Tooth abscess, Anemia, Abscess, Recurrent Staphylococcus aureus infections	ORPHA:642
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649
Pmm2-Cdg	Impaired neutrophil chemotaxis	ORPHA:79318
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

Histopathology

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

There is no histopathology data for Padi4

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Padi4.

No publications found that use IMPC mice or data for Padi4.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Padi4^{tm560(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Padi4^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Padi4^{tm560(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Padi4 MGI:1338898

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Padi4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data