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Gene: Sugp1 MGI:1917866

Gene Summary

Name:

SURP and G patch domain containing 1

Synonyms:

Sf4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged lymph nodes	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal ovary morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
embryonic growth retardation	Sugp1^em1(IMPC)Mbp	HET	E15.5	0.00
edema	Sugp1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal kidney morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Sugp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal freezing behavior	Sugp1^em1(IMPC)Mbp	HET	Early adult	1.69×10^-06
enlarged kidney	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal uterus morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
prenatal lethality prior to heart atrial septation	Sugp1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal liver morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Sugp1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
small liver	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
preweaning lethality, incomplete penetrance	Sugp1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Sugp1^em1(IMPC)Mbp	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Histopathology

Images

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X-ray

XRay Images Whole Body Dorso Ventral

62 Images

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E9.5

Embryo reconstruction

7 Images

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Human diseases caused by Sugp1 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 Sugp1 (0 diseases)
Human diseases predicted to be associated with Sugp1 (687 diseases)

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

The table below shows human diseases predicted to be associated to Sugp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lipedema	Edema	OMIM:614103
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, Tu...	OMIM:619902
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Hepatomegaly, Acute kidney injury, Cholestasis, Nephr...	ORPHA:85445
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
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
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul...	ORPHA:54251
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom...	OMIM:613313
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
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
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys	OMIM:613885
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom...	OMIM:614377
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, Noct...	ORPHA:85450
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal cell carci...	ORPHA:319487
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
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder...	ORPHA:449395
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra...	OMIM:614034
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular si...	ORPHA:168569
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Elevated c...	OMIM:608836
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:608540
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232200
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
White Sponge Nevus 2	Edema	OMIM:615785
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Meacham Syndrome	Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S...	OMIM:608978
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Senior-Boichis Syndrome	Polydipsia, Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, ...	ORPHA:84081
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Polyphagia, Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulon...	ORPHA:251004
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo...	ORPHA:848
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
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
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ...	OMIM:146255
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Ovarian Fibrothecoma	Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
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
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Thrombocytopenia, Leuko...	ORPHA:505248
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin...	OMIM:273250
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplastic nipples,...	ORPHA:79328
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, He...	OMIM:606003
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangi...	ORPHA:1655
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Roifman Syndrome	Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Abdominal mass, Ureter...	ORPHA:160
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly	ORPHA:834
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Overgrowth of ex...	ORPHA:508
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Splenomegaly, Proteinuria, Ren...	ORPHA:36412
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega...	OMIM:306955
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Mucolipidosis Ii Alpha/Beta	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
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl...	OMIM:601076
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hypocellular...	ORPHA:549
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
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
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis	ORPHA:2348
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Abnormal fear-induced behavior, Increased urinary porphobilinogen, Depression, Purple ...	ORPHA:100924
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insufficiency, Ly...	ORPHA:139402
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Helsmoortel-Van Der Aa Syndrome	Irritability, Enlarged kidney, Hyperactivity, Recurrent urinary tract infections, Enuresis noctur...	OMIM:615873
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252920
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis	ORPHA:79083
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul...	OMIM:300855
Microphthalmia, Syndromic 9	Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hypopl...	OMIM:601186
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
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
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcin...	OMIM:300755
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru...	ORPHA:83628
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux...	ORPHA:2237
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Prolidase Deficiency	Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph...	OMIM:235255
Lymphatic Malformation 6	Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, Short stature,...	OMIM:616843
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Splenomegaly, Cryptorchidism	OMIM:618440
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy...	ORPHA:809
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Microcephaly 20, Primary, Autosomal Recessive	Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at...	OMIM:617914
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Ascites, Nephrotic sy...	ORPHA:93552
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Hypogonadism, ...	ORPHA:2905
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic transaminase conce...	ORPHA:781
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Supernumerary nipple, Hypospadias, Renal cyst, Cryptorchidism, Hyd...	OMIM:312870
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria,...	ORPHA:77297
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Testicular atrophy, P...	ORPHA:465508
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostati...	ORPHA:449432
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Abnorma...	ORPHA:538
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Abnormality of the ovary, Decreased testicular size, Biliary tract abn...	OMIM:209900
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Acute...	ORPHA:342
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ...	ORPHA:500095
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct...	OMIM:154230
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:201100
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of t...	OMIM:616258
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulating hepat...	ORPHA:50918
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:608594
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:168558
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites	OMIM:261740
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Pagod Syndrome	Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o...	ORPHA:991
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:289548
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen...	ORPHA:322
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Meckel Syndrome 14	Polycystic kidney dysplasia, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl...	ORPHA:29073
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:269700
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy	OMIM:616028
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Renal am...	OMIM:249100
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Aplasia of the uterus, Thrombocytopenia, Axial malrotation of the kidn...	ORPHA:3320
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Coccidioidomycosis	Abnormality of the kidney, Abnormality of the female genitalia, Mediastinal lymphadenopathy, Panc...	ORPHA:228123
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Premature Ovarian Failure 6	Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei...	OMIM:612310
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619665
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619203
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior, Nephrolithiasis	OMIM:219090
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo...	OMIM:614083
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci...	OMIM:618419
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Brucellosis	Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Intrarenal abscess, Leukopeni...	ORPHA:1304
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym...	ORPHA:83471
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Increased mean pl...	ORPHA:84064
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc...	ORPHA:797
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundice, Hepatospl...	ORPHA:499009
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Hypoplasminogenemia	Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary	ORPHA:722
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
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
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Vesicoureteral reflux, Aplasia of the uterus, Le...	OMIM:274000
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem...	ORPHA:289390
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia,...	ORPHA:2136
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Unilateral renal agenesis, Hypospadias, Abnormal o...	ORPHA:95699
Perrault Syndrome 4	Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico...	OMIM:615300
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco...	ORPHA:100079
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly, Peritonitis	ORPHA:32960
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re...	OMIM:263700
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Elevated circula...	ORPHA:3260
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Parotitis, Acute pancreatitis, ...	ORPHA:99827
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites	ORPHA:139411
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Splenomegaly, Vaginal atresia, Horseshoe kidney	OMIM:617088
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Hydronephros...	OMIM:236680
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymp...	ORPHA:449563
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Cholestasis, Ascite...	OMIM:619573
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Nephrotic syndrome, Thrombocytopenia, Splenomegaly...	OMIM:615846
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
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Clear cell renal cell carcinoma, Spl...	ORPHA:90340
Okamoto Syndrome	Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Splenomegaly, Bifid ute...	ORPHA:2729
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Recurrent urinary...	ORPHA:353281
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Elevated circulating hepatic tran...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Elevated circulating hepatic tran...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Elevated circulating hepatic tran...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Cirrhosis, Renal hypoplasia/aplasia, Elevated circulating hepatic tran...	ORPHA:99226
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T ...	OMIM:619381
Behçet Disease	Glomerulopathy, Pancreatitis, Lymphadenopathy, Splenomegaly, Orchitis, Renal insufficiency	ORPHA:117
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Thrombocyto...	ORPHA:509
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Renal malrotation, Hypoplasia of the uterus	OMIM:615866
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali...	OMIM:194190
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Intrahepatic cholestasis, Hepatomegaly, Hypospadias, Rectovaginal fistula, ...	OMIM:243800
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyper...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyper...	ORPHA:353277
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Leukocytosis, Proteinuria, Sterile pyuria, Thrombocytosis, He...	ORPHA:2331
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo...	ORPHA:99889
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus	OMIM:309801
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Abnormal prolactin level, Hepatosp...	ORPHA:3385
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Renal hypo...	OMIM:135900
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Biliary tract abnor...	OMIM:261540
Plague	Lymphadenitis, Enlarged mesenteric lymph node, Splenomegaly, Hepatomegaly	ORPHA:707
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Anterior hypopituitarism, Hypoplasia...	ORPHA:709
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Neu-Laxova Syndrome 1	Renal agenesis, Bifid uterus, Cryptorchidism	OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Aplasia of the uterus...	OMIM:601803
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ...	ORPHA:286
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649

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.

Phenotype	Allele	Zygosity	Life Stage
Stomach - MPATH pathological process term inflammation	Sugp1^em1(IMPC)Mbp	HET	Late adult
Stomach - MPATH pathological process term hyperplasia	Sugp1^em1(IMPC)Mbp	HET	Late adult
Heart - MPATH pathological process term hypertrophy	Sugp1^em1(IMPC)Mbp	HET	Late adult

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 Sugp1.

No publications found that use IMPC mice or data for Sugp1.

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MGI Allele	Allele Type	Produced
Sugp1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sugp1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Sugp1^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

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Gene: Sugp1 MGI:1917866

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

X-ray

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E9.5

Human diseases caused by Sugp1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data