Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Iglon5 MGI:2686277

Gene Summary

Name:

IgLON family member 5

Synonyms:

A230106M20Rik

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
enlarged seminal vesicle	Iglon5^em1(IMPC)Mbp	HOM	Late adult
enlarged spleen	Iglon5^em1(IMPC)Mbp	HOM	Late adult
abnormal kidney morphology	Iglon5^em1(IMPC)Mbp	HOM	Late adult
small kidney	Iglon5^em1(IMPC)Mbp	HOM	Early adult
abnormal eye morphology	Iglon5^em1(IMPC)Mbp	HOM	Early adult
abnormal skin morphology	Iglon5^em1(IMPC)Mbp	HOM	Late adult
abnormal liver morphology	Iglon5^em1(IMPC)Mbp	HOM	Late adult
abnormal skin morphology	Iglon5^em1(IMPC)Mbp	HOM	Early adult
enlarged kidney	Iglon5^em1(IMPC)Mbp	HOM	Late adult
enlarged lymph nodes	Iglon5^em1(IMPC)Mbp	HOM	Late adult
abnormal spleen morphology	Iglon5^em1(IMPC)Mbp	HOM	Late adult
abnormal lymph node morphology	Iglon5^em1(IMPC)Mbp	HOM	Late adult
abnormal kidney morphology	Iglon5^em1(IMPC)Mbp	HOM	Early adult
small kidney	Iglon5^em1(IMPC)Mbp	HOM	Late adult

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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

80 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

30 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

62 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

26 Images

View images

Human diseases caused by Iglon5 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 Iglon5 (0 diseases)
Human diseases predicted to be associated with Iglon5 (670 diseases)

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

The table below shows human diseases predicted to be associated to Iglon5 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	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance	ORPHA:2274
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
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
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
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
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
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
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Hartnup Disorder	Hyperactivity, Emotional lability, Episodic ataxia, Attention deficit hyperactivity disorder, Ele...	OMIM:234500
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Hyperactivity, Dysphagia, Impulsivity, Gait ataxia	OMIM:620448
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys	OMIM:613885
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul...	ORPHA:54251
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Hepatomegaly, Distal sensory impairment, Impaired pain sensation, Hepatic failure, G...	OMIM:616719
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Senior-Boichis Syndrome	Polydipsia, Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, ...	ORPHA:84081
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Hyperprolinemia, Type I	Prolinuria, Hyperactivity, Hyperglycinuria, Ataxia, Hydroxyprolinuria, Motor stereotypy, Aggressi...	OMIM:239500
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, A...	ORPHA:731
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal cell carci...	ORPHA:319487
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom...	OMIM:613313
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Glycine Encephalopathy 1	Irritability, Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Aggressive behavior	OMIM:605899
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly	ORPHA:391
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Morm Syndrome	Hyperactivity, Abnormality of the kidney, Micropenis, Aggressive behavior	ORPHA:75858
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Laryngeal Neuroendocrine Tumor	Anorexia, Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyng...	ORPHA:100083
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra...	OMIM:614034
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
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
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly	ORPHA:796
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder...	ORPHA:449395
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, Noct...	ORPHA:85450
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular si...	ORPHA:168569
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency 27A	Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:209950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Babesiosis	Anorexia, Jaundice, Hepatomegaly, Depression, Leukopenia, Splenomegaly, Thrombocytopenia, Renal i...	ORPHA:108
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Glut1 Deficiency Syndrome 2	Irritability, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Elevated c...	OMIM:608836
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Polyphagia, Episodic hemolytic anemia, Macroscopic hematuria, Proteinuria, Pain ...	ORPHA:251004
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Inability to walk, Bone-marr...	OMIM:257200
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Thrombocytopenia, Splenomegaly, Loss of ambulation, Hemolytic anemia	OMIM:615010
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hepatomegaly, Ataxia	OMIM:615924
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Phenylketonuria	Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Compulsive be...	OMIM:261600
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Delayed early-childhood social milestone development, Hyperactivity, Gait dist...	OMIM:618090
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity	OMIM:617113
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concen...	ORPHA:507
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Senior-Loken Syndrome 4	Polydipsia, Polyuria, Nephronophthisis, Anemia, Stage 5 chronic kidney disease	OMIM:606996
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Choreoathetosis, Re...	ORPHA:79312
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Gait disturbance, Ataxia, Splenomegaly, Unsteady ga...	ORPHA:2585
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Hyperactivity, Chorea, Vesicoureteral reflux, Waddling gait, Impulsivity, Gait ataxia, Self-mutil...	OMIM:620445
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Juvenile Huntington Disease	Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chorea, Depression,...	ORPHA:248111
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperactivity, Nephrolithiasis, Attention deficit hyperactiv...	OMIM:619827
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port...	ORPHA:824
Congenital Disorder Of Glycosylation, Type Iij	Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, A...	OMIM:613489
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Ataxia, Thrombocytopenia, Splenomegaly	OMIM:231000
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Hepatomegaly, Splenomegaly, Motor stereotypy	OMIM:615637
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Nephronophthisis 9	Polydipsia, Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney...	OMIM:613824
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Meacham Syndrome	Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S...	OMIM:608978
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior...	ORPHA:228402
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Free Sialic Acid Storage Disease	Hepatomegaly, Athetosis, Ascites, Gait disturbance, Nephrotic syndrome, Ataxia, Proteinuria, Sple...	ORPHA:834
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Chorea, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior	ORPHA:382
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Renal Hypoplasia	Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent...	ORPHA:93101
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Sensory ...	OMIM:613470
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav...	ORPHA:101039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Legionnaires Disease	Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hy...	ORPHA:549
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Splenomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Aggr...	OMIM:252920
Aggressive Systemic Mastocytosis	Anorexia, Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast c...	ORPHA:98850
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Inability to walk, Nephrotic syndrome, Bone marrow hypocellularity, Thro...	ORPHA:505248
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Sialidosis Type 2	Hepatomegaly, Ascites, Ataxia, Splenomegaly, Nephropathy	ORPHA:87876
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo...	ORPHA:848
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Inability to walk, Hyperactivity, Nephrolithiasis, Self-injurious behavior, Choreoathetosis, Aggr...	OMIM:620023
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Ochoa Syndrome	Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic...	ORPHA:2704
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Mcleod Syndrome	Hepatomegaly, Impaired vibration sensation at ankles, Depression, Chorea, Compulsive behaviors, E...	OMIM:300842
Nephronophthisis-Like Nephropathy 2	Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney...	OMIM:619468
Helsmoortel-Van Der Aa Syndrome	Irritability, Enlarged kidney, Decreased response to growth hormone stimulation test, Hyperactivi...	OMIM:615873
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Abdominal mass, Ureter...	ORPHA:160
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
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
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Kleine-Levin Syndrome	Polydipsia, Irritability, Agitation, Abnormal eating behavior, Depression, Polyphagia, Repetitive...	ORPHA:33543
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Pediatric-Onset Graves Disease	Polydipsia, Irritability, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:525731
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Nephronophthisis 1	Polydipsia, Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubul...	OMIM:256100
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Hyperactivity, Chorea, Impaired pain sensation, Impulsivity, Gait ataxia, Dysp...	ORPHA:500180
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Nephronophthisis 11	Polydipsia, Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Renal t...	OMIM:613550
Gaucher Disease Type 1	Anorexia, Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Depression, B...	ORPHA:77259
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Central Diabetes Insipidus	Polydipsia, Depression, Nocturia, Anorexia	ORPHA:178029
Joubert Syndrome 33	Ataxia, Splenomegaly	OMIM:617767
Nephronophthisis 4	Polydipsia, Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atroph...	OMIM:606966
Alg9-Cdg	Irritability, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypopl...	ORPHA:79328
Familial Pancreatic Carcinoma	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Per...	ORPHA:1333
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism	DECIPHER:39
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Hydronephrosis, Motor stereotypy, Attention...	OMIM:620141
Optic Atrophy 11	Hyperactivity, Athetosis, Gait apraxia, Stereotypical body rocking, Ataxia, Splenomegaly, Attenti...	OMIM:617302
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Ataxia, Splenomegaly, Proteinu...	ORPHA:36412
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Hyperlysinemia, Type I	Argininuria, Anemia, Hyperactivity, Dysdiadochokinesis, Ornithinuria, Hyperlysinuria, Homocitrull...	OMIM:238700
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas phys...	ORPHA:93111
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega...	OMIM:306955
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Brain-Lung-Thyroid Syndrome	Hypoparathyroidism, Hypospadias, Falls, Hyperactivity, Chorea, Vesicoureteral reflux, Compulsive ...	ORPHA:209905
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
47,Xyy Syndrome	Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, Impulsivity, Varicocele, Reduced social...	ORPHA:8
Renal Glucosuria	Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria	OMIM:233100
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Mucolipidosis Ii Alpha/Beta	Tip-toe gait, Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly	OMIM:252500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Argininemia	Anorexia, Irritability, Spastic gait, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase...	OMIM:207800
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Agitation, Ataxia, Splenomegaly, Macrocytic anemia	OMIM:619046
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Roifman Syndrome	Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Hemophagocytic Lymphohistiocytosis, Familial, 2	Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, El...	OMIM:603553
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252900
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Ogden Syndrome	Irritability, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia...	OMIM:300855
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Hemophagocytic Lymphohistiocytosis, Familial, 1	Irritability, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Sple...	OMIM:267700
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, He...	OMIM:606003
Type 1 Diabetes Mellitus	Polydipsia, Polyuria, Polyphagia	OMIM:222100
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Whipple Disease	Polydipsia, Anorexia, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Depression, Ataxia, Sple...	ORPHA:3452
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
Acute Monoblastic/Monocytic Leukemia	Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Olig...	ORPHA:514
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Low frustration tolerance, Stereotypical h...	ORPHA:163681
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insufficiency, Ly...	ORPHA:139402
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Gait ataxia, Prolonged neonatal jau...	OMIM:257220
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Thyroid Lymphoma	Goiter, Lymphadenopathy, Dysphagia	ORPHA:97285
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
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
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperpho...	OMIM:239200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangi...	ORPHA:1655
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Progressive cerebellar ataxia, Elevated circul...	OMIM:610377
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Hepatomegaly, Emotional lability, Decreased testicular size, Ataxia, Splenomegaly, ...	OMIM:201100
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Hereditary Central Diabetes Insipidus	Polydipsia, Irritability	ORPHA:30925
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Low frustration tolerance, Microphallus, Gait ataxia, Motor stereotypy, Small scro...	OMIM:300486
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Exces...	ORPHA:449291
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Citrullinemia Type Ii	Irritability, Hepatomegaly, Pancreatitis, Abnormal eating behavior, Elevated circulating hepatic ...	ORPHA:247585
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Acute Promyelocytic Leukemia	Anorexia, Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Addictive alcohol use, ...	ORPHA:520
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Graves Disease	Irritability, Hyperactivity, Abnormal abdomen morphology, Polyphagia, Goiter	OMIM:275000
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy, Dysphagia	ORPHA:142
Cystinosis	Polydipsia, Nephropathy, Portal hypertension, Gait disturbance, Proteinuria, Motor stereotypy, Re...	ORPHA:213
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Waldenström Macroglobulinemia	Anorexia, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Ataxia, Splenomegaly, Abnormality of ...	ORPHA:33226
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Overgrowth of ex...	ORPHA:508
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Senior-Loken Syndrome 1	Polydipsia, Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal conce...	OMIM:266900
Tuberous Sclerosis Complex	Hyperactivity, Pheochromocytoma, Impulsivity, Pituitary adenoma, Parathyroid adenoma, Pulmonary l...	ORPHA:805
Sialuria	Hepatomegaly, Increased level of N-acetylneuraminic acid in urine, Hypoplastic nipples, Splenomeg...	OMIM:269921
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Hyperactivity, Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting, Self...	OMIM:618314
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
East Syndrome	Polydipsia, Renal salt wasting, Difficulty walking, Inability to walk, Enuresis, Ataxia, Renal ma...	ORPHA:199343
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostati...	ORPHA:449432
Kikuchi-Fujimoto Disease	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circula...	ORPHA:50918
Oligomeganephronia	Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a...	ORPHA:2260
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
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
Neuroblastoma	Irritability, Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary van...	ORPHA:635
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Ascites, Nephrotic sy...	ORPHA:93552
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Gait disturbance, Leukopenia, ...	OMIM:214500
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Prolidase Deficiency	Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Q Fever	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic transami...	ORPHA:781
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactiv...	OMIM:610042
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcin...	OMIM:300755
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph...	OMIM:235255
Arima Syndrome	Polydipsia, Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerst...	OMIM:243910
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
X-Linked Adrenoleukodystrophy	Hyperactivity, Neurogenic bladder, Gait disturbance, Urinary bladder sphincter dysfunction, Disin...	ORPHA:43
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy...	ORPHA:809
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Ataxia, Lymphadenopathy, Peritonitis	ORPHA:343
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Hyperactivity, Urinary hesitancy, Urinary urgency, Nocturia, Impaired vibra...	OMIM:609727
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Senior-Loken Syndrome 3	Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome...	OMIM:606995
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Depression, Abnormal proportion of CD8-posit...	ORPHA:101096
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy...	ORPHA:100086
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract ob...	ORPHA:100085
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ...	ORPHA:500095
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Splenomegaly, Cryptorchidism	OMIM:618440
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conce...	OMIM:615688
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Acute...	ORPHA:342
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Polyuria, Megacystis, Irritability	OMIM:125800
Brucellosis	Anorexia, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Depression, Chorea, Leukocytosis,...	ORPHA:1304
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Polyuria, Megacystis, Irritability	OMIM:304800
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Supernumerary nipple, Hypospadias, Renal cyst, Cryptorchidism, Hyd...	OMIM:312870
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites	OMIM:261740
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria,...	ORPHA:77297
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Neuroendocrine Tumor Of The Colon	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100080
Childhood Absence Epilepsy	Urinary incontinence, Abnormal social behavior, Depression, Punding, Attention deficit hyperactiv...	ORPHA:64280
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl...	ORPHA:29073
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Hyperesthesia, Visceromegaly, Ascites, Polycythemia, Splenomegaly,...	ORPHA:2905
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Abnormal social behavior, Depression, Chorea, Bone-marrow foam cells, Low...	ORPHA:646
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Hyperactivity, Dilatation of renal calices, Attention deficit hyperactivity di...	OMIM:614294
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly, Dysphagia	OMIM:230600
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, ...	ORPHA:99880
Bardet-Biedl Syndrome 9	Polydipsia, Renal insufficiency, Polyphagia	OMIM:615986
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Parathyroid Carcinoma	Polydipsia, Parathyroid carcinoma, Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamar...	ORPHA:143
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Abnorma...	ORPHA:538
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Emotional lability, Ataxia, Hyperechogenic kidneys, Reduced renal corticomedullary...	OMIM:620047
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Ataxia,...	OMIM:616084
Teratoma, Pineal	Polydipsia, Polyuria, Abnormal abdomen morphology	OMIM:273120
Familial Cold Urticaria	Polydipsia, Dysesthesia	ORPHA:47045
Bronchial Neuroendocrine Tumor	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormon...	ORPHA:97287
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Abnormal eryt...	ORPHA:2388
Graft Versus Host Disease	Irritability, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,...	ORPHA:39812
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Behçet Disease	Anorexia, Irritability, Glomerulopathy, Pancreatitis, Lymphadenopathy, Gait disturbance, Ataxia, ...	ORPHA:117
Neuroendocrine Tumor Of The Rectum	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100082
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy	OMIM:616028
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, Hepatic steatosis, Jaun...	OMIM:277900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty walki...	ORPHA:309854
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of th...	ORPHA:223
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Systemic Lupus Erythematosus	Anorexia, Hematuria, Lymphadenopathy, Pyuria, Depression, Chorea, Thrombocytopenia, Leukopenia, P...	ORPHA:536
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inability to walk, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Spl...	OMIM:617913
Apparent Mineralocorticoid Excess	Polydipsia, Nephrocalcinosis, Left ventricular hypertrophy, Abnormal urine sodium concentration, ...	ORPHA:320
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Renal am...	OMIM:249100
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Wolfram Syndrome	Polydipsia, Anemia, Abnormality of the urinary system, Recurrent urinary tract infections, Dysuri...	ORPHA:3463
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Dysdiadochokine...	OMIM:612780
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha...	ORPHA:85327
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Adrenal hyperplasia, Athetosis, Nephrolithiasis	ORPHA:369929
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites	ORPHA:139411
Cystinosis, Nephropathic	Polydipsia, Low-molecular-weight proteinuria, Polyuria, Hepatomegaly, Hematuria, Generalized amin...	OMIM:219800
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:608594
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Increased mean pl...	ORPHA:84064
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Depression, Acute promyelocyti...	ORPHA:77293
Toxic Epidermal Necrolysis	Polydipsia, Pancreatitis, Anemia, Abnormality of the urethra, Elevated circulating hepatic transa...	ORPHA:537
Familial Hyperaldosteronism Type Iii	Polydipsia, Hypercalciuria, Adrenal hyperplasia, Left ventricular hypertrophy	ORPHA:251274
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Chorea, Dysdiadochokinesis, Emotional lability, Impulsivity, Gait ataxia, Dysphagi...	OMIM:610217
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundice, Hepatospl...	ORPHA:499009
Crimean-Congo Hemorrhagic Fever	Ascites, Leukopenia, Splenomegaly, Cholecystitis, Anorexia, Agitation, Jaundice, Pancytopenia, Ne...	ORPHA:99827
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym...	ORPHA:83471
Coccidioidomycosis	Abnormality of the kidney, Abnormality of the female genitalia, Mediastinal lymphadenopathy, Panc...	ORPHA:228123
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem...	ORPHA:289390
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:269700
Erdheim-Chester Disease	Polydipsia, Anemia, Renal insufficiency, Dysuria, Hydronephrosis, Ataxia, Retroperitoneal fibrosi...	ORPHA:35687
Distal Renal Tubular Acidosis	Polydipsia, Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rat...	ORPHA:18
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc...	ORPHA:797
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Idiopathic Hypereosinophilic Syndrome	Somatic sensory dysfunction, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreati...	ORPHA:3260
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia,...	ORPHA:2136
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria	ORPHA:95626
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
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Neuroendocrine Tumor Of Stomach	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency ...	ORPHA:100075
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Polyuria, Hypercalciuria, Adrenal hyperplasia	OMIM:613677
Gitelman Syndrome	Polydipsia, Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Nocturia, Renal magnesium...	OMIM:263800
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Septo-Optic Dysplasia Spectrum	Polydipsia, Anterior pituitary hypoplasia, Cryptorchidism, Hypoplasia of penis	ORPHA:3157
African Trypanosomiasis	Irritability, Impaired proprioception, Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontine...	ORPHA:3385
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Panhypophysitis	Polydipsia, Reduced circulating prolactin concentration, Normochromic anemia, Hyposthenuria, Pitu...	ORPHA:95513
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Neurodegeneration With Brain Iron Accumulation 1	Obsessive-compulsive trait, Urinary incontinence, Akinesia, Hyperactivity, Depression, Gait distu...	OMIM:234200
Helix Syndrome	Polydipsia, Polyuria, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hyperparathyroidism	OMIM:617671
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Decreased response to growth hormone stimulation test, Elevated circulating hepatic t...	ORPHA:293987
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Polyuria, Parathyroid hyperplasia, Nephrolithiasis	OMIM:617994
Joubert Syndrome 21	Renal cyst, Ataxia, Splenomegaly, Dysphagia, Hyperechogenic kidneys	OMIM:615636
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
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
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Hereditary Sensory And Autonomic Neuropathy Type 4	Somatic sensory dysfunction, Abnormal emotion, Difficulty walking, Anemia, Distal sensory impairm...	ORPHA:642
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re...	OMIM:263700
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia, Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria,...	OMIM:602522
Sarcoidosis, Susceptibility To, 1	Anorexia, Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary ...	OMIM:181000
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly, Peritonitis	ORPHA:32960
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Gait disturbance, Thrombocytopenia, Splenomegaly, ...	ORPHA:77261
Marburg Hemorrhagic Fever	Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	ORPHA:99826
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Neuroendocrine Neoplasm Of Appendix	Anorexia, Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration...	ORPHA:100079
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Familial Hyperaldosteronism Type I	Polydipsia, Adrenal hyperplasia	ORPHA:403
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymp...	ORPHA:449563
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Clear cell renal cell carcinoma, Spl...	ORPHA:90340
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Aicardi-Goutieres Syndrome 7	Irritability, Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Nephrotic syndrome, Thrombocytopenia...	OMIM:615846
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Adrenal hyperplasia, Increased urinary potassium	ORPHA:231580
Leptospirosis	Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, T...	ORPHA:509
Riddle Syndrome	Emotional lability, Enuresis nocturna, Gait disturbance, Ataxia, Generalized lymphadenopathy	ORPHA:420741
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari...	ORPHA:91351
Hypomagnesemia 3, Renal	Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuri...	OMIM:248250
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Cholestasis, Ascite...	OMIM:619573
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion o...	OMIM:619381
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Juvenile Nephropathic Cystinosis	Polydipsia, Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Micr...	ORPHA:411634
Rabson-Mendenhall Syndrome	Polydipsia, Clitoral hypertrophy, Long penis, Precocious puberty, Nephrocalcinosis, Increased pin...	ORPHA:769
Proximal Renal Tubular Acidosis	Polydipsia, Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hyperc...	ORPHA:47159
Gitelman Syndrome	Polydipsia, Neoplasm of the pancreas, Urinary incontinence, Iron deficiency anemia, Renal tubular...	ORPHA:358
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, ...	ORPHA:99889
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Renal dysplasia, Hypoplas...	OMIM:188400
Infantile Nephropathic Cystinosis	Polydipsia, Low-molecular-weight proteinuria, Hyperphosphaturia, Glycosuria, Renal Fanconi syndro...	ORPHA:411629
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Splenomegaly, Vaginal atresia, Horseshoe kidney	OMIM:617088
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassi...	OMIM:241200
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Plague	Anorexia, Hepatomegaly, Depression, Lymphadenitis, Unsteady gait, Splenomegaly, Enlarged mesenter...	ORPHA:707
Kawasaki Disease	Irritability, Cervical lymphadenopathy, Jaundice, Leukocytosis, Proteinuria, Sterile pyuria, Thro...	ORPHA:2331
Chikungunya	Depression, Cervical lymphadenopathy, Lymphadenopathy, Paresthesia	ORPHA:324625
Histidinemia	Hyperactivity, Histidinuria	ORPHA:2157
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64

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 Iglon5

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 Iglon5.

No publications found that use IMPC mice or data for Iglon5.

Order Mouse and ES Cells

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
Iglon5^{tm365241(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Iglon5^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Iglon5 MGI:2686277

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 Iglon5 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data