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Gene: Lrrtm2 MGI:2389174

Gene Summary

Name:

leucine rich repeat transmembrane neuronal 2

Synonyms:

C630011A14Rik

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
abnormal lung morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
hyperactivity	Lrrtm2^em1(IMPC)Mbp	HOM	Early adult	5.32×10^-05
abnormal spleen morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal urinary bladder morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
urinary bladder obstruction	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged kidney	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal gallbladder morphology	Lrrtm2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Lrrtm2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Lrrtm2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Lrrtm2^em1(IMPC)Mbp	HOM	Early 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

112 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

56 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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Human diseases caused by Lrrtm2 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 Lrrtm2 (0 diseases)
Human diseases predicted to be associated with Lrrtm2 (777 diseases)

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

The table below shows human diseases predicted to be associated to Lrrtm2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Nephrotic range proteinuria, Abn...	OMIM:613496
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus...	OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho...	OMIM:616217
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Ethanolaminosis	Cardiomegaly	OMIM:227150
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Kerion Celsi	Lymphadenopathy	ORPHA:499
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Gallbladder Disease 1	Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Elevated circulating hepatic transaminase co...	OMIM:600803
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Re...	ORPHA:3032
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Hyperbiliverdinemia	Decreased liver function, Green urine, Cholestasis, Cholelithiasis	OMIM:614156
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ...	OMIM:602088
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu...	ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Schizophrenia 15	Hyperactivity	OMIM:613950
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa...	ORPHA:65682
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Fo...	OMIM:617303
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Encephalopathy Due To Prosaposin Deficiency	Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:139406
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Abnormal pulmonary inte...	ORPHA:77259
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Pulmonary cyst	OMIM:618272
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Protoporphyria, Erythropoietic, X-Linked	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Meckel Syndrome, Type 6	Aplasia of the bladder, Renal cyst, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver d...	OMIM:612284
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live...	ORPHA:69663
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Ascites, Polysplenia, Pulmonar...	OMIM:200995
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce...	OMIM:613490
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid valve, Accessory sp...	OMIM:618280
Pentalogy Of Cantrell	Hypospadias, Renal dysplasia, Renal agenesis, Abnormal pericardium morphology, Pulmonary hypoplas...	ORPHA:1335
Meacham Syndrome	Enlarged kidney, Transposition of the great arteries, Cardiac total anomalous pulmonary venous co...	OMIM:608978
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Respiratory tract inf...	ORPHA:79128
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Immunodeficiency 27A	Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:209950
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo...	OMIM:276700
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated c...	OMIM:608836
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Microcytic anemia, Cholelithiasis	ORPHA:79278
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Laryngeal Neuroendocrine Tumor	Anorexia, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
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
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop...	ORPHA:319487
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Glycogen Storage Disease Vii	Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Reticulocytosis, Reduced ery...	OMIM:232800
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Pulmonary hypo...	OMIM:608022
Burkitt Lymphoma	Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ...	ORPHA:543
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly	OMIM:269920
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:796
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Morm Syndrome	Hyperactivity, Abnormality of the kidney, Micropenis, Aggressive behavior	ORPHA:75858
Hyperprolinemia, Type I	Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Aggressive behavior	OMIM:239500
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma...	OMIM:607616
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Renal tubular dysfunctio...	OMIM:614886
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Cardiomegaly, Hepatosp...	ORPHA:99931
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Cholelithiasis, Hepatic failure	OMIM:177000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Cholestasis, Biliary cir...	OMIM:267010
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Mirizzi Syndrome	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	ORPHA:521219
Sialuria	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hepatosplenomegaly, Cholel...	ORPHA:3166
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Recurrent upper respiratory tract infe...	OMIM:252920
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Atrial septal defect, Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy,...	ORPHA:505248
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, ...	OMIM:614034
Combined Oxidative Phosphorylation Deficiency 59	Hypertrophic cardiomyopathy, Dicarboxylic aciduria, Cholelithiasis	OMIM:620646
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le...	ORPHA:507
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Recurrent pharyngitis, Decreased tes...	ORPHA:168569
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of ...	ORPHA:54251
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port...	ORPHA:824
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Hydronephrosis, Abnormal heart morphology, Tetralogy of Fallot, Micropenis, Cryptor...	ORPHA:96092
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Distal Duplication 5Q	Dextrocardia, Hypospadias, Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the g...	ORPHA:96097
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Enlarged kidney, Cardiomyopathy, Pleural effusion, Hypertrophic cardiomyopathy, ...	OMIM:261740
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic...	OMIM:601346
Pancreatic Colipase Deficiency	Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Alg9-Cdg	Abnormal lung lobation, Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis,...	ORPHA:79328
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Nephrocalcinosis	OMIM:240300
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ...	OMIM:212140
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Retinitis Pigmentosa 89	Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, Bicuspid aortic va...	OMIM:618955
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Ureteral duplication, Transposition of the great arteries, Anterio...	ORPHA:2255
Babesiosis	Jaundice, Hepatomegaly, Recurrent pharyngitis, Leukopenia, Splenomegaly, Thrombocytopenia, Renal ...	ORPHA:108
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Pulmonary hypoplasia, Hypertrophic cardiomyopathy	OMIM:614096
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Polyphagia, Episodic hemolytic anemia, Macroscopic hematuria, Proteinuria, Membr...	ORPHA:251004
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Hepatomegaly, Splenomegaly, Motor stereotypy	OMIM:615637
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Hypertrophic cardiomyopathy, Pericardial effusion, Thrombocy...	OMIM:618775
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi...	ORPHA:79302
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Decreased testicular size, Recurrent upper respiratory tract infections, Recurren...	OMIM:300534
Senior-Boichis Syndrome	Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,...	ORPHA:84081
Gaucher Disease	Leukopenia, Splenomegaly, Pancytopenia, Splenic infarction, Splenic rupture, Pulmonary fibrosis, ...	ORPHA:355
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Trisomy 8P	Abnormal lung lobation, Annular pancreas, Abnormal left ventricle morphology, Peripheral pulmonar...	ORPHA:264450
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Pulmonic s...	OMIM:610205
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperactivity, Nephrolithiasis, Attention deficit hyperactiv...	OMIM:619827
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:602390
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Generalized Pseudohypoaldosteronism Type 1	Recurrent upper and lower respiratory tract infections, Cholelithiasis, Recurrent tonsillitis	ORPHA:171876
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97261
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri...	OMIM:600001
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Mulibrey Nanism	Hepatomegaly, Recurrent lower respiratory tract infections, Ascites, Pericardial constriction, My...	OMIM:253250
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Recurren...	OMIM:620210
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Hereditary Amyloidosis With Primary Renal Involvement	Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopath...	ORPHA:85450
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N...	OMIM:619644
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency...	ORPHA:79312
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis	OMIM:160900
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Abnormal pulmonary interstitial morphology, Ch...	ORPHA:77293
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Recurrent respirator...	OMIM:300635
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Hypospadias, Cholelithiasis, Recurrent pneumonia, Hydronephrosis, Male uret...	ORPHA:464738
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections	OMIM:619170
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re...	OMIM:263700
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Recurrent pharyngitis, Hepatitis...	ORPHA:549
Aggressive Systemic Mastocytosis	Anorexia, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukoc...	ORPHA:98850
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Anemia, Increased hepatic gl...	ORPHA:79259
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular sept...	ORPHA:860
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Recurrent bronchitis, Hypertrophic cardiomyopathy, Mucopolysacchar...	OMIM:252500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int...	OMIM:620367
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr...	OMIM:201475
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis	OMIM:619273
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile...	OMIM:619662
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Elevated circulating alanine...	OMIM:607330
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladde...	OMIM:615710
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria, Recurrent respiratory infec...	ORPHA:834
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Cardiomyopathy, Familial Hypertrophic, 4	Pulmonary edema, Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect...	OMIM:115197
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Abnormality of the liver, Abnormal urinary color	ORPHA:234
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:42
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Thrombocytopenia, Splenomegaly...	OMIM:226990
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, R...	OMIM:613489
Caroli Syndrome	Abnormality of the kidney, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatit...	ORPHA:480520
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Bicuspid aortic valve, Cardiomegaly, Perimembranous ven...	OMIM:300855
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ovarian gonadoblastoma, ...	OMIM:194080
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Ketamine-Induced Biliary Dilatation	Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Abdominal mass, Ureter...	ORPHA:160
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Emphysema, Abnormal heart valve morphol...	ORPHA:36412
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Acute Monoblastic/Monocytic Leukemia	Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Olig...	ORPHA:514
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormality of the pulmonary arte...	ORPHA:290
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis, Pancytopenia, Bacterial endoc...	ORPHA:2072
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Recurrent respiratory infections, Urinary retenti...	ORPHA:97297
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Hemobilia, Urinary incontinence, Abnormal gallbladder morphology	ORPHA:512
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
22Q11.2 Deletion Syndrome	Multiple renal cysts, Splenomegaly, Tricuspid atresia, Hypospadias, Polycystic kidney dysplasia, ...	ORPHA:567
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Hydronephrosis, Motor stereotypy, Attention...	OMIM:620141
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Digeorge Syndrome	Recurrent sinusitis, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, T...	OMIM:188400
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Recurrent urinary tract ...	ORPHA:47612
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Oligosacchariduria	ORPHA:3137
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Exocrine pancreatic ...	OMIM:618268
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly	OMIM:614699
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 10	Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly	OMIM:614702
Cirrhotic Cardiomyopathy	Left atrial enlargement, Pulmonary edema, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atria...	ORPHA:57777
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Neopla...	ORPHA:2869
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa...	OMIM:606003
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonary hy...	OMIM:616897
Q Fever	Myocarditis, Pneumonia, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Elevated circulating he...	ORPHA:781
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def...	ORPHA:500095
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ...	OMIM:617713
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancre...	ORPHA:83617
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Hydronephrosis, Absent gallbladder, Atrial septal defect, Ventricula...	OMIM:300712
Fucosidosis	Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta...	ORPHA:465508
Vacterl/Vater Association	Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardia...	ORPHA:887
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252900
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o...	ORPHA:3097
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
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Renal cyst, Bile duct proliferation	OMIM:611134
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Cryptorchidism	OMIM:612651
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Timothy Syndrome	Cardiomegaly, Bronchitis, Patent foramen ovale, Tetralogy of Fallot, Pneumonia, Ventricular septa...	OMIM:601005
Hereditary Orotic Aciduria	Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Recurr...	ORPHA:30
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Ventricular septal defect, Hydronephrosis, Thrombocytopenia, Absent gallblad...	ORPHA:163979
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Hyperactivity, Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting, Self...	OMIM:618314
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten...	OMIM:613673
Acute Promyelocytic Leukemia	Anorexia, Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Addictive alcohol use, ...	ORPHA:520
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Abnormal mesentery morphology, Cryptorchidism, Multi...	ORPHA:2075
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatosis, Ventricula...	OMIM:618278
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis, Recurrent respiratory infect...	OMIM:618042
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Dysphagia	ORPHA:1332
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome...	ORPHA:905
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Duplication of renal pelvis, Tr...	OMIM:312870
Prolidase Deficiency	Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Recurrent pneumonia, T...	OMIM:170100
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Aortic valve sten...	OMIM:230800
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Recurrent sinopulmonary infections, Splenomegaly, Pulmona...	OMIM:618394
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Tetrasomy 9P	Jaundice, Dextrocardia, Biliary atresia, Recurrent urinary tract infections, Patent foramen ovale...	ORPHA:3310
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Retroperito...	OMIM:602782
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva...	OMIM:620609
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Williams Syndrome	Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol...	ORPHA:904
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Splenomegaly, Dysphagia, Heparan sulfate excretion in urine	OMIM:252930
Helsmoortel-Van Der Aa Syndrome	Atrial septal defect, Enlarged kidney, Decreased response to growth hormone stimulation test, Rec...	OMIM:615873
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	ORPHA:308552
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopath...	ORPHA:809
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Familial Pancreatic Carcinoma	Anorexia, Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic ...	ORPHA:1333
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis, Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Cryptorchidism, A...	ORPHA:3376
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal...	ORPHA:508
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology, Unilateral renal dysplasia	OMIM:184705
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thr...	ORPHA:540
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Pleural effusion, Splenomegaly, Cardiomegaly, Recurrent respi...	OMIM:232300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Pulmonary hypoplasia, Tetralogy of Fallot, Absent gallbladder, Micropenis, Complete atrioventricu...	OMIM:617925
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Emphysema, R...	ORPHA:1572
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Ascites, Nephrotic sy...	ORPHA:93552
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr...	OMIM:616005
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia...	ORPHA:84064
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Recurrent respiratory infections, Pancreatic cysts, Renal cyst, Polycystic liver diseas...	OMIM:208500
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Alkaptonuria	Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral valve calcific...	ORPHA:56
Trisomy 10P	Absent gallbladder, Abnormality of the kidney, Abnormal heart morphology, Multiple renal cysts	ORPHA:171929
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Secundum atrial septal def...	OMIM:612541
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnorm...	ORPHA:77261
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasis, Ventricular septal defect, ...	ORPHA:1655
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pulmonary hypo...	OMIM:608013
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis	ORPHA:99812
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Hydronephrosis, Sp...	OMIM:235255
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy, Renal insufficiency, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Hepatitis,...	ORPHA:139402
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Pleural effusion, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutro...	OMIM:249100
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Unilateral lung agenesis, Absent gallbladder, Atrial septal ...	OMIM:617140
Cat Eye Syndrome	Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmonary venous retur...	OMIM:115470
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Mogs-Cdg	Pulmonary edema, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy...	ORPHA:79330
Proteus Syndrome	Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Ovarian neoplasm, Pulmonary bulla, Lo...	ORPHA:744
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Hsd10 Disease, Infantile Type	Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urin...	ORPHA:391428
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Abnormal atrial septum morphology, Abnormal lung morphology, Choleli...	ORPHA:909
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple...	OMIM:603553
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Truncus Arteriosus	Abnormal lung lobation, Pulmonary edema, Transposition of the great arteries, Abnormal heart valv...	ORPHA:3384
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Renal hypoplasia/aplasia, Tetralogy of Fallot, Abnormal localization of kidney, Absent gallbladde...	ORPHA:3186
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Hereditary Hemorrhagic Telangiectasia	Cirrhosis, Hepatic arteriovenous malformation, Hematuria, Anemia, Cholelithiasis, Nephrolithiasis...	ORPHA:774
Waldenström Macroglobulinemia	Anorexia, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutroph...	ORPHA:33226
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio...	OMIM:620565
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation	OMIM:603194
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy...	ORPHA:100086
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Recurrent pneum...	ORPHA:1329
Mcleod Syndrome	Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno...	OMIM:300842
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl...	ORPHA:29073
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Pulmonary hypoplasia, Cardiomegaly, Pneumothorax	OMIM:620306
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Mucopolysaccharidosis Type 7	Ascites, Mucopolysacchariduria, Splenomegaly, Abnormal pleura morphology, Recurrent respiratory i...	ORPHA:584
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Amin...	OMIM:239200
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Recurrent resp...	OMIM:230000
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, Ventricular septa...	OMIM:617022
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Congenital Tracheomalacia	Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Ventricular septal defect, Bronchiectasi...	ORPHA:95430
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Pulmonary edema, Urinary incontinence, Cardiomyopathy	OMIM:105210
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Neuroendocrine Tumor Of The Colon	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Kikuchi-Fujimoto Disease	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, L...	ORPHA:50918
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ...	OMIM:618329
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating hepatic transaminase concentration, Hypospadias, ...	OMIM:137920
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Aspiration pneumonia, Muco...	ORPHA:581
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Brucellosis	Bronchitis, Intrarenal abscess, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Pneumonia, T...	ORPHA:1304
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Renal artery aneurysm, Leukocytos...	OMIM:615688
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Renal cyst, B...	OMIM:261515
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Ascites	ORPHA:139411
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def...	OMIM:222470
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Pleuritis, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis...	ORPHA:342
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal l...	OMIM:181000
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcinoma, Enterovi...	OMIM:300755
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, Hepatomegaly, B lymphocy...	OMIM:102700
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Ventricular septal defe...	ORPHA:3427
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Unilateral renal agenesis, Abnormal heart morphology, Unilateral lung agenesis, Absent...	ORPHA:500150
Chops Syndrome	Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Aspiration pneumonia, Cry...	OMIM:616368
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Multipl...	ORPHA:538
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Pleural effusion, Atrial septal dilatation, Abnormality of the hepatic vasculature,...	ORPHA:1677
Absence Of The Pulmonary Artery	Pulmonary edema, Atrial septal defect, Cardiomegaly, Patent foramen ovale, Truncus arteriosus, Re...	ORPHA:980
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:2905
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati...	OMIM:619525
Argininemia	Anorexia, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Oroticaciduria, H...	OMIM:207800
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Hyperactivity, Dilatation of renal calices, Attention deficit hyperactivity di...	OMIM:614294
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Urogenital sinus anomaly, Abnormal renal physiology, ...	ORPHA:96176
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Neuroendocrine Tumor Of The Rectum	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Dysphagi...	OMIM:617913
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Primum atrial septal defect, Biliary atresia	OMIM:615272
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ...	ORPHA:273
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Histiocytoid Cardiomyopathy	Pulmonary edema, Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal d...	ORPHA:137675
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi...	ORPHA:363705
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly	ORPHA:39812
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea...	OMIM:618500
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Bronchial Neuroendocrine Tumor	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:97287
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
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid ...	OMIM:222700
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Meckel Syndrome, Type 1	Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, Asplenia, Bile duct pro...	OMIM:249000
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundice, Hepatospl...	ORPHA:499009
Malakoplakia	Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin...	ORPHA:556
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Jaundice, Hepatomegaly, Aciduria, Elevated circulating hepatic trans...	OMIM:203700
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Ventricular septal defect, Pulmonic sten...	OMIM:261540
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia,...	ORPHA:2136
Tuberous Sclerosis Complex	Abnormality of the kidney, Chronic kidney disease, Hyperactivity, Polycystic kidney dysplasia, Re...	ORPHA:805
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome...	ORPHA:333
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym...	ORPHA:83471
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Atelectasis, Splenic cyst, Patent foramen ovale, Pulmonary artery atresia, Hepatic ...	OMIM:620371
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Atelectasis, Elevated circulating alanine aminotransferase concentration, Hypertrop...	ORPHA:365
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular sep...	OMIM:269700
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Reticul...	ORPHA:14
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,...	ORPHA:565612
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:608594
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Renal insu...	ORPHA:449432
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Urinary incontinence, Cholecystitis	ORPHA:309271
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial septal defect, Hepatomegaly, Tra...	ORPHA:99125
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Ventricular hypertrophy, Abnormality of the pulmonary artery, Mitral valve calcificati...	ORPHA:363618
Systemic Lupus Erythematosus	Anorexia, Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolyti...	ORPHA:536
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
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
Ileal Neuroendocrine Tumor	Lymphadenopathy, Hydronephrosis, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Right vent...	ORPHA:1478
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Abnormal pulmonary interstitial morphology, Anemia, Elevated...	OMIM:613658
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Peritoneal abscess, Ventricular septal defect, Hypoplasia of the thy...	ORPHA:436252
Neuroendocrine Tumor Of Stomach	Anorexia, Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati...	ORPHA:3260
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Coccidioidomycosis	Abnormality of the kidney, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormalit...	ORPHA:228123
Wolf-Hirschhorn Syndrome	Abnormality of the kidney, Atrial septal defect, Abnormality of the gallbladder, Hypospadias, Abn...	ORPHA:280
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Abnormality of the gallbladder, Renal hypoplasia/aplasia, Hypospadias, At...	ORPHA:818
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Sarcoidosis	Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ...	ORPHA:797
Crimean-Congo Hemorrhagic Fever	Anorexia, Agitation, Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Acute panc...	ORPHA:99827
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:32960
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect, Cryptorchidism	ORPHA:96191
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Nephrotic syndrome, Thrombocytopenia, Splenomegaly...	OMIM:615846
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T ly...	OMIM:619381
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic activ...	ORPHA:289390
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Behçet Disease	Anorexia, Glomerulopathy, Pancreatitis, Lymphadenopathy, Splenomegaly, Renal insufficiency	ORPHA:117
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Leptospirosis	Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, T...	ORPHA:509
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pneumothorax, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect, Left ventricular...	OMIM:300967
Histidinemia	Hyperactivity, Histidinuria	ORPHA:2157
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Blau Syndrome	Anemia, Lymphadenopathy, Clear cell renal cell carcinoma, Splenomegaly, Abnormality of the liver,...	ORPHA:90340
Marburg Hemorrhagic Fever	Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnorma...	ORPHA:99826
Neurofibroma	Neoplasm of the trachea, Abnormal biliary tract morphology, Neoplasia of the pleura, Enlargement ...	ORPHA:252183
Neuroendocrine Neoplasm Of Appendix	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100079
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphosphaturia, Pericardial effu...	ORPHA:51608
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Cholestasis, Ascite...	OMIM:619573
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ...	ORPHA:733
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele...	ORPHA:653
Yunis-Varon Syndrome	Hypospadias, Renal artery stenosis, Ventricular septal defect, Cardiomyopathy, Renovascular hyper...	ORPHA:3472
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperiton...	ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy, Tubulointerstitial nephritis	ORPHA:79078
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Hepatosplenomegaly, Splenomegaly, ...	ORPHA:3385
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Leukocytosis, Proteinuria, Sterile pyuria, Thrombocytosis, He...	ORPHA:2331
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, ...	ORPHA:99889
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Plague	Anorexia, Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node	ORPHA:707
Singleton-Merten Syndrome 1	Pleural effusion, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, ...	OMIM:182250

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 Lrrtm2

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 Lrrtm2.

No publications found that use IMPC mice or data for Lrrtm2.

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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
Lrrtm2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Lrrtm2^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue
Lrrtm2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Lrrtm2 MGI:2389174

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 Lrrtm2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data