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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

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
small liver	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal freezing behavior	Sugp1^em1(IMPC)Mbp	HET	Early adult	7.12×10^-07
preweaning lethality, incomplete penetrance	Sugp1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Sugp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal liver morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged kidney	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal uterus morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged kidney	Sugp1^em1(IMPC)Mbp	HET	Early 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
abnormal lymph node morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Sugp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Sugp1^em1(IMPC)Mbp	HET	E15.5	0.00
prenatal lethality prior to heart atrial septation	Sugp1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal kidney morphology	Sugp1^em1(IMPC)Mbp	HET	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E9.5

Embryo reconstruction

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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Histopathology

Images

5 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

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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 (673 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
Severe Primary Trimethylaminuria	Aggressive behavior, Trimethylaminuria, Anxiety, Emotional lability, Low self esteem, Depression,...	ORPHA:468726
Lipedema	Edema	OMIM:614103
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,...	OMIM:617610
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ...	OMIM:619902
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Abnormality of the liver	OMIM:235550
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Nephronophthisis 16	Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia...	OMIM:615382
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Panic Disorder 1	Anxiety	OMIM:167870
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Intellectual Developmental Disorder, Autosomal Recessive 25	Anxiety	OMIM:614346
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Obsessive-Compulsive Disorder	Skin-picking, Depression, Anxiety	OMIM:164230
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy	ORPHA:60026
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy, Mucinous histiocytosis	ORPHA:158025
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit...	ORPHA:543
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe...	OMIM:263200
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg...	OMIM:208540
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k...	ORPHA:85445
Immunodeficiency 104	Lymphadenopathy, Splenomegaly, T lymphocytopenia, Hepatomegaly	OMIM:608971
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H...	OMIM:619126
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Nephronophthisis 19	Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th...	OMIM:616217
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ...	OMIM:615415
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri...	ORPHA:100024
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Tyrosinemia Type 1	Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom...	ORPHA:882
Dystonia 11, Myoclonic	Agoraphobia, Panic attack, Depression, Anxiety	OMIM:159900
Nephronophthisis 2	Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio...	OMIM:602088
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:86893
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:66661
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki...	ORPHA:730
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta...	OMIM:616002
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar...	OMIM:620010
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ...	ORPHA:90301
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Elevated circulating alanine aminotransferase concentration, Nephrotic sy...	OMIM:615559
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Geniospasm 1	Anxiety	OMIM:190100
Kerion Celsi	Lymphadenopathy	ORPHA:499
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Sea-Blue Histiocyte Disease	Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E...	OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,...	OMIM:603552
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr...	OMIM:618270
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ...	ORPHA:54251
Denys-Drash Syndrome	Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Ambiguous...	OMIM:194080
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly	OMIM:105200
Hemochromatosis, Type 2B	Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Elevated hepatic transaminase, Hepatomegaly, S...	OMIM:613313
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly	ORPHA:100025
Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:98293
Galactosemia Iii	Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly	OMIM:230350
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys	OMIM:613885
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Renal oncocytoma, Papillary renal cell carcinoma, Nodular goiter,...	ORPHA:97290
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Splenomegaly, Hepatomegaly	ORPHA:417
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Pandas	Abnormal fear/anxiety-related behavior, Separation insecurity, Agoraphobia, Emotional lability, D...	ORPHA:66624
Hyperbilirubinemia, Shunt, Primary	Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ...	OMIM:133180
Kaposiform Lymphangiomatosis	Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Hepatosplenomegaly, Thromb...	ORPHA:464329
Glycogen Storage Disease Ib	Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Focal seg...	OMIM:232220
Follicular Lymphoma	Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum	ORPHA:545
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat...	ORPHA:79301
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Lymphoproliferative Syndrome 3	Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated...	OMIM:619658
Nephronophthisis 13	Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int...	OMIM:614377
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel...	OMIM:602450
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Leukopenia, Anemia, Nephrotic syndrome, Enlarged kidney, Nephritis, Macrov...	OMIM:617303
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Granulomatous Slack Skin	Abnormal lymph node morphology, Nephrocalcinosis, Acute kidney injury	ORPHA:33111
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly, Trimethylaminuria	OMIM:602079
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti...	ORPHA:731
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi...	OMIM:617514
Tyrosinemia, Type I	Cirrhosis, Anemia, Hepatic failure, Enlarged kidney, Ascites, Hepatocellular carcinoma, Elevated ...	OMIM:276700
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa...	OMIM:200995
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Lymphatic Malformation 8	Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema	OMIM:618773
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo...	OMIM:615513
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:619220
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo...	OMIM:612840
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ...	OMIM:614470
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly	OMIM:271500
Pfapa Syndrome	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:42642
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib...	OMIM:619868
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:617068
Carcinoma Of Esophagus	Lymphadenopathy	ORPHA:70482
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly, Hepatomegaly	OMIM:616622
Heme Oxygenase 1 Deficiency	Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p...	OMIM:614034
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Renal tubular atrophy, Abnormal testis morphology, Hepatosplenome...	ORPHA:85450
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Chronic noninfect...	ORPHA:319487
Desmoplastic Small Round Cell Tumor	Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym...	ORPHA:83469
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly	OMIM:618982
Congenital Toxoplasmosis	Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome...	ORPHA:858
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Sclerosing Cholangitis, Neonatal	Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau...	OMIM:617394
H Syndrome	Hypogonadism, Decreased testicular size, Enlarged kidney, Abnormality of the kidney, Azoospermia,...	ORPHA:168569
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa...	OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly	OMIM:613101
Immunodeficiency 64 With Lymphoproliferation	Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In...	OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni...	OMIM:300853
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphad...	OMIM:618495
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hydronephrosis, Elevated circulating alanine aminotransferase concentration, Renal dysplasia, Enl...	OMIM:608836
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
Cold Agglutinin Disease	Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly	ORPHA:56425
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, As...	ORPHA:1046
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg...	ORPHA:846
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg...	OMIM:214900
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma, Abnormality of the...	ORPHA:276280
Fish-Eye Disease	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:79292
Progressive Familial Intrahepatic Cholestasis	Jaundice, Splenomegaly, Cholestasis, Hepatomegaly	ORPHA:172
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly	ORPHA:37748
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly	OMIM:240500
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Increased urinary porphobilinogen, Splenomegaly, Elevated urinary delta-a...	OMIM:121300
Congenital Disorder Of Glycosylation, Type Iio	Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol...	OMIM:616828
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m...	ORPHA:98848
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe...	OMIM:602347
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality...	OMIM:617805
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome...	OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly	OMIM:224100
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hypogonadism, Hepatomegaly	OMIM:608540
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy...	OMIM:143400
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:610539
Hemochromatosis, Type 2A	Cirrhosis, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly	OMIM:602390
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge...	OMIM:209950
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology	ORPHA:2584
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Epididymitis	OMIM:608106
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia	ORPHA:482
Glycogen Storage Disease Ia	Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transaminase, Decreased glomerular fi...	OMIM:232200
Immunodeficiency 54	Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg...	OMIM:609981
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Renal interstitial immunoglobul...	ORPHA:449395
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Hyperparathyroidism, Ovarian cyst	OMIM:618188
Meacham Syndrome	Bicornuate uterus, Enlarged kidney, Male pseudohermaphroditism, Blind vagina, Accessory spleen, H...	OMIM:608978
Ovarian Fibroma	Gonadal calcification, Abnormality of the ovary, Ascites, Peritonitis, Mesenteric cyst, Ovarian f...	ORPHA:314473
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
White Sponge Nevus 2	Edema	OMIM:615785
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas...	OMIM:615122
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:607616
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Diaphanospondylodysostosis	Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe k...	OMIM:608022
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg...	OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal...	OMIM:615234
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Splenomegaly	ORPHA:75234
Lymphoid Interstitial Pneumonia	Enlarged kidney, Mediastinal lymphadenopathy, Hepatomegaly	ORPHA:79128
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen...	OMIM:615387
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615010
Immunodeficiency 91 And Hyperinflammation	Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Elevated hepati...	OMIM:619644
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas...	OMIM:607594
Dysplastic Cortical Hyperostosis	Abnormality of the urinary system, Splenomegaly, Hepatomegaly	ORPHA:2204
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ...	ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Griscelli Syndrome Type 2	Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly	ORPHA:79477
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Harderoporphyria	Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal...	OMIM:618892
Gonadoblastoma	Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno...	ORPHA:206484
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Hematuria, Renal neoplasm, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Pleural Mesothelioma	Lymphadenopathy, Hepatomegaly	ORPHA:50251
Lymphatic Malformation 7	Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E...	OMIM:617300
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Cardiomegaly, Renal cortical cysts, Pancre...	OMIM:130650
Classic Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly	ORPHA:391
Nephroblastoma	Nephroblastoma, Lymphadenopathy, Hematuria, Neoplasm of the liver	ORPHA:654
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive...	OMIM:601859
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, ...	OMIM:308240
Klatskin Tumor	Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly	ORPHA:99978
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failur...	ORPHA:158057
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia	ORPHA:157991
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas...	OMIM:619463
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly, Leukocytosis	OMIM:611762
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Anemia, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocellular carc...	ORPHA:79259
Glycogen Storage Disease Ixb	Increased hepatic glycogen content, Splenomegaly, Hepatomegaly	OMIM:261750
Tetragametic Chimerism	Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin...	ORPHA:199310
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ...	OMIM:610333
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:257200
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Beta-Thalassemia	Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti...	OMIM:613812
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli...	ORPHA:3226
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Babesiosis	Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Jaundice, Hepatomegaly, Throm...	ORPHA:108
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism...	ORPHA:64743
Beta-Thalassemia Intermedia	Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Decreased liver functi...	ORPHA:231222
Lysosomal Acid Lipase Deficiency	Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic...	OMIM:278000
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L...	OMIM:619846
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormality of the peritoneum	ORPHA:26790
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
X-Linked Sideroblastic Anemia	Anemia, Elevated hepatic transaminase, Splenomegaly	ORPHA:75563
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live...	ORPHA:400
Primary Myelofibrosis	Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden...	ORPHA:824
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J...	ORPHA:1333
Cryoglobulinemic Vasculitis	Glomerulopathy, Abnormality of the liver, Hematuria, Viral hepatitis, Mediastinal lymphadenopathy...	ORPHA:91138
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Dis...	OMIM:146255
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:85414
Griscelli Syndrome	Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel...	ORPHA:381
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo...	ORPHA:911
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly	OMIM:618107
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph...	OMIM:613011
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Senior-Boichis Syndrome	Suicidal ideation, Abnormal renal insterstitial morphology, Elevated hepatic transaminase, Malfor...	ORPHA:84081
Ovarian Fibrothecoma	Gonadal calcification, Abnormality of the ovary, Ascites, Peritonitis, Abnormal endometrium morph...	ORPHA:314478
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly	OMIM:300635
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera...	OMIM:613027
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:612526
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Urethral atresia, Hydronephrosis	OMIM:314390
Testicular Regression Syndrome	Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo...	ORPHA:983
Adams-Oliver Syndrome 6	Portal hypertension, Hepatic fibrosis, Renal hypoplasia, Splenomegaly	OMIM:616589
Hemochromatosis, Type 1	Cirrhosis, Hepatocellular carcinoma, Azoospermia, Elevated hepatic transaminase, Testicular atrop...	OMIM:235200
Cardiac-Urogenital Syndrome	Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Unilateral cryptorchidism, A...	OMIM:618280
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Hemolytic anemia, Nephrotic syndrome, Lymphopenia, Hepatosplenomegaly, Lymphadenop...	OMIM:618935
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent...	ORPHA:158061
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea...	ORPHA:276
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal...	OMIM:601847
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Rosaï-Dorfman Disease	Lymphadenopathy, Anemia	ORPHA:158014
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly	ORPHA:664
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Bone marrow hypocell...	ORPHA:505248
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy...	OMIM:301078
Leydig Cell Hypoplasia	Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell...	ORPHA:755
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:613489
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Alg9-Cdg	Hypoplasia of the bladder, Periportal fibrosis, Bicornuate uterus, Enlarged kidney, Ureteral hypo...	ORPHA:79328
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Omenn Syndrome	Anemia, Nephrotic syndrome, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomega...	ORPHA:39041
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ...	ORPHA:100026
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Cardiomegaly, Congenital megaureter, Enlar...	ORPHA:116
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615085
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria	ORPHA:251004
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon...	OMIM:273250
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol...	OMIM:235700
Matthew-Wood Syndrome	Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormalit...	ORPHA:2470
Lymphangiectasia, Pulmonary, Congenital	Polyhydramnios, Pedal edema, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Pleura...	OMIM:265300
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter...	OMIM:613470
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea...	OMIM:266200
Cinca Syndrome	Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia	OMIM:607115
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic...	OMIM:607765
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr...	ORPHA:2585
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog...	OMIM:194380
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:619183
Sézary Syndrome	Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology	ORPHA:3162
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto...	OMIM:616689
Gaucher Disease, Type Iii	Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:231000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Renal insufficiency, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Sickle Cell Disease	Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hematuria, Increase...	OMIM:603903
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ...	OMIM:266810
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,...	OMIM:235555
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Caroli Disease	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine...	ORPHA:53035
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Incre...	ORPHA:98850
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Coach Syndrome 1	Hepatic fibrosis, Cirrhosis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease...	OMIM:216360
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Transaldolase Deficiency	Hepatic fibrosis, Cirrhosis, Anemia, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He...	OMIM:606003
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Hepatomegaly, Nephronophthisis, Splenomegaly, Chr...	OMIM:615630
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Endocrine-Cerebroosteodysplasia	Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cryptorchidism, Hy...	OMIM:612651
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:616651
46,Xy Sex Reversal 3	Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm...	OMIM:612965
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia	OMIM:608184
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, He...	ORPHA:1655
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Biliary tract abnormality, Multiple glomerular cysts, Nephrolithia...	OMIM:137920
Lig4 Syndrome	Hypoplasia of penis, Pancytopenia, Lymphadenopathy, Hepatomegaly, Cryptorchidism, Leukocytosis, A...	ORPHA:99812
Medullary Thyroid Carcinoma	Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism, Abnormal liver pa...	ORPHA:1332
Roifman Syndrome	Hypogonadotropic hypogonadism, Lymphadenopathy, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Boutonneuse Fever	Leukopenia, Renal insufficiency, Elevated hepatic transaminase, Lymphadenopathy, Cervical lymphad...	ORPHA:83313
Diffuse Cutaneous Mastocytosis	Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord...	ORPHA:79456
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria, Hepatomegaly, Ascites, Splenomegaly	ORPHA:834
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy, Ovarian neoplasm	ORPHA:2221
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Hepatocellular carcinoma, Abnormal erythrocy...	ORPHA:370
Infantile Liver Failure Syndrome 3	Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi...	OMIM:618641
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg...	OMIM:616100
Castleman Disease	Anemia, Renal insufficiency, Jaundice, Ureteral obstruction, Generalized lymphadenopathy, Hematur...	ORPHA:160
Leprechaunism	Enlarged kidney, Labial hypertrophy, Hypercalciuria, Long penis, Hepatomegaly, Overgrowth of exte...	ORPHA:508
Spherocytosis, Type 1	Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis	OMIM:182900
Neuraminidase Deficiency	Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid...	OMIM:256550
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absence of lymph node germinal...	ORPHA:277
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens...	ORPHA:131
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Jaundice, Elevated hepatic transaminase, Abnormal renal physiology, Lymphadenopathy, Hemo...	ORPHA:540
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly	OMIM:185000
Wolman Disease	Anemia, Hepatic failure, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly	ORPHA:75233
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen...	OMIM:612714
Thymic Neuroendocrine Tumor	Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Calcium...	ORPHA:97289
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Pure re...	OMIM:613179
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypopl...	OMIM:601076
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, T lymphocytopenia, Urinary retention, Ascites, Jaundi...	ORPHA:79124
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Micropenis	OMIM:613091
Heterotaxy, Visceral, 1, X-Linked	Asplenia, Biliary atresia, Enlarged kidney, Polysplenia, Renal agenesis, Horseshoe kidney, Hepato...	OMIM:306955
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo...	ORPHA:2138
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hematuria, Lymphadenopathy, Hepatomegaly, Proteinuria, Ascites, Renal insufficien...	ORPHA:36412
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Adult-Onset Still Disease	Hepatitis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphadenopathy, Bone marrow ...	ORPHA:829
Wilson Disease	Cirrhosis, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h...	ORPHA:905
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252500
Felty Syndrome	Anemia, Recurrent urinary tract infections, Lymphadenopathy, Bone marrow hypocellularity, Hepatom...	ORPHA:47612
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly	ORPHA:163596
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Lymphatic Filariasis	Vaginal hydrocele, Lymphadenitis, Abnormality of the scrotum, Lymphangiectasis, Hypereosinophilia...	ORPHA:2035
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, A...	ORPHA:2795
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C...	OMIM:308230
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Ly...	OMIM:615895
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Cinca Syndrome	Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Hepatomegal...	ORPHA:1451
Tularemia	Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphadenopathy,...	ORPHA:3392
Legionnaires Disease	Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Lymphadenopathy, Bone marrow hypocellu...	ORPHA:549
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear/anxiety-related behavior, Aggressive behavior, Abnormal aggressive, impulsive or vi...	ORPHA:3077
Osteopetrosis, Autosomal Recessive 4	Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:611490
American Trypanosomiasis	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:3386
Erythrocytosis, Familial, 8	Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly	OMIM:222800
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin...	ORPHA:168563
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m...	ORPHA:90797
Fetal Gaucher Disease	Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb...	OMIM:226990
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy, Neoplasm of the liver	ORPHA:424019
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:169090
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly	OMIM:618541
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:2348
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Abnormal erythrocyte enzyme level, E...	ORPHA:264580
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice...	OMIM:607626
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Microcytic anemia, Hepatosplenomegaly	OMIM:619750
Neonatal Lupus Erythematosus	Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati...	ORPHA:398124
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Jaundice, Elevated hepati...	ORPHA:30391
Primary Lipodystrophy	Splenomegaly, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis	ORPHA:90970
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl...	OMIM:619151
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Overhydrated Hereditary Stomatocytosis	Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Spherocytosis, Type 4	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit...	ORPHA:2975
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephri...	OMIM:304790
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly	ORPHA:2414
Early-Onset Schizophrenia	Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo...	ORPHA:96369
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Microphthalmia, Syndromic 9	Hydronephrosis, Bicornuate uterus, Renal malrotation, Multilobulated spleen, Pelvic kidney, Horse...	OMIM:601186
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo...	ORPHA:99429
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra...	ORPHA:567983
Spherocytosis, Type 2	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph...	OMIM:618986
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u...	OMIM:158330
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Hepatocellular carcinoma, Elevated h...	ORPHA:79240
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Ly...	OMIM:603553
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, A...	ORPHA:3109
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Elevated hepatic transaminase, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopen...	OMIM:617591
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Nephrotic syndrome, Hepatitis, Lymphocytosis, Elevated hepatic tran...	ORPHA:139402
Autoimmune Hepatitis	Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular...	ORPHA:2137
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Renal agenesis, Hypoplasia of the uterus	ORPHA:247768
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik...	OMIM:300908
Diethylstilbestrol Syndrome	Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa...	ORPHA:1916
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b...	OMIM:233710
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79083
Ogden Syndrome	Microvesicular hepatic steatosis, Decreased testicular size, Enlarged kidney, Jaundice, Polycysti...	OMIM:300855
Elliptocytosis 1	Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly	OMIM:611804
Mevalonic Aciduria	Anemia, Elevated urine mevalonic acid level, Elevated hepatic transaminase, Hepatosplenomegaly, N...	OMIM:610377
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine	OMIM:252920
Cyclic Neutropenia	Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, Cervic...	ORPHA:2686
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Gaucher Disease Type 1	Leukopenia, Cirrhosis, Anemia, Hypersplenism, Hematuria, Pancytopenia, Biliary tract obstruction,...	ORPHA:77259
Hemophagocytic Lymphohistiocytosis, Familial, 1	Leukopenia, Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, ...	OMIM:267700
Lumbar Syndrome	Vesicoureteral reflux, Ambiguous genitalia, Renal duplication, Bifid scrotum, Renal agenesis, Hyp...	ORPHA:83628
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, V...	ORPHA:2237
Autoimmune Hemolytic Anemia	Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly	ORPHA:98375
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism...	OMIM:614841
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Prostatitis, B lymphocytopenia, Recurrent urinary tract infections, He...	OMIM:300755
Chromosome 17Q12 Deletion Syndrome	Unicornuate uterus, Multicystic kidney dysplasia, Hypoplasia of the bladder, Recurrent urinary tr...	OMIM:614527
Macrocephaly/Autism Syndrome	Hydrocele testis, Lymphopenia, Penile freckling, Hepatomegaly, Splenomegaly	OMIM:605309
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b...	OMIM:233690
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ...	ORPHA:3202
Lymphatic Malformation 6	Polyhydramnios, Short stature, Lymphedema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Ch...	OMIM:616843
Satoyoshi Syndrome	Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u...	ORPHA:3130
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasi...	OMIM:235255
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Lymphadenopathy, Proteinuria	ORPHA:69126
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Splenomegaly, Retroperitoneal fibrosis, Decreased response to growth hormo...	OMIM:602782
Mixed Connective Tissue Disease	Leukopenia, Hemolytic anemia, Lymphadenopathy, Nephropathy, Mediastinal lymphadenopathy, Hepatome...	ORPHA:809
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cirrhosis, Microvesicular hepatic steatosis, Anemia, Polysplenia, Macronodular cirrhosis, Hepatic...	OMIM:619418
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Chediak-Higashi Syndrome	Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat...	OMIM:214500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati...	OMIM:610199
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia	OMIM:612783
Oculoskeletodental Syndrome	Renal agenesis, Mucopolysacchariduria, Hepatomegaly, Cryptorchidism, Splenomegaly, Hypercalciuria	OMIM:618440
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hepatic failure, Testicular atro...	ORPHA:465508
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy, Peritonitis, Hepatomegaly	ORPHA:343
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon...	ORPHA:2442
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Autoimmune hemolytic anemia, Abnormal urinary color, Spleno...	ORPHA:90033
Hyper-Igd Syndrome	Lymphadenitis, Elevated urine mevalonic acid level, Renal angiomyolipoma, Neutrophilia, Hepatospl...	OMIM:260920
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo...	ORPHA:288
Familial Mediterranean Fever	Splenomegaly, Nephrotic syndrome, Ascites, Lymphadenopathy, Nephropathy, Proteinuria, Orchitis, N...	ORPHA:342
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Happy demeanor, Anxiety, ...	OMIM:615873
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Elevated hepatic transaminase, Lymphopenia, Autoimmun...	ORPHA:1572
Simpson-Golabi-Behmel Syndrome, Type 1	Nephroblastoma, Enlarged kidney, Polysplenia, Supernumerary nipple, Pancreatic islet-cell hyperpl...	OMIM:312870
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepatocellular carcin...	ORPHA:231226
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor...	OMIM:606367
Pediatric Systemic Lupus Erythematosus	Leukopenia, Renal insufficiency, Nephrotic syndrome, Microangiopathic hemolytic anemia, Hematuria...	ORPHA:93552
Joubert Syndrome With Hepatic Defect	Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Renal insufficiency, Neopl...	ORPHA:1454
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle...	OMIM:612964
Thyroid Lymphoma	Lymphadenopathy, Goiter	ORPHA:97285
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Glycogen Storage Disease Xii	Anemia, Elevated circulating alanine aminotransferase concentration, Normocytic anemia, Jaundice,...	OMIM:611881
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi...	ORPHA:90793
Q Fever	Anemia, Abnormality of the liver, Hepatitis, Hematuria, Elevated hepatic transaminase, Hepatosple...	ORPHA:781
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Oliguria, Leukocytosis, Cerv...	ORPHA:514
Igg4-Related Submandibular Gland Disease	Retroperitoneal fibrosis, Renal insufficiency, Prostatitis, Abnormality of the kidney, Enlarged l...	ORPHA:449432
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ...	ORPHA:822
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio...	ORPHA:100086
Pancreatoblastoma	Abnormal lymph node morphology, Jaundice, Pancreatic calcification	ORPHA:677
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Decreased proportion of memory B cel...	OMIM:618048
Chronic Granulomatous Disease	Liver abscess, Abnormality of neutrophils, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:379
Beta-Thalassemia Major	Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell...	ORPHA:231214
Gaucher Disease, Type I	Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:230800
Immunodeficiency 47	Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat...	OMIM:300972
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Bilateral renal agenesis, Vaginal atresia, Renal hypoplasia, Hyperechogenic ki...	OMIM:617914
Majeed Syndrome	Glomerulopathy, Hypochromic microcytic anemia, Leukocytosis, Hepatomegaly, Proteinuria, Splenomeg...	ORPHA:77297
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Hereditary Orotic Aciduria	Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splen...	ORPHA:30
Scheie Syndrome	Mucopolysacchariduria, Splenomegaly, Hepatomegaly	ORPHA:93474
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Anemia, Hyperphosphaturia, Polyuria, Hepatomegaly, Primary hyperparathyroidism, Sp...	OMIM:239200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Renal malrotatio...	ORPHA:500095
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla...	OMIM:616005
46,Xy Sex Reversal 4	Hydronephrosis, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic...	OMIM:154230
Anaplastic Thyroid Carcinoma	Nodular goiter, Lymphadenopathy, Goiter	ORPHA:142
Lymphangioleiomyomatosis	Renal angiomyolipoma, Hematuria, Renal neoplasm, Lymphadenopathy, Abnormal urinary color, Multipl...	ORPHA:538
Ovarian Dysgenesis 6	Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:618078
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Waldenström Macroglobulinemia	Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Hepatomegaly, Renal ins...	ORPHA:33226
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the kidney, Abnormality...	OMIM:209900
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Lymphocytosis, ...	ORPHA:50918
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Splenomegaly, Hypogonadism, Hepatomegaly	OMIM:201100
Hardikar Syndrome	Hypoplasia of the bladder, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly...	OMIM:301068
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:300510
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ...	ORPHA:3261
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Labial hypertrophy, Elevated hepatic transaminase, Hepatic steatosis, Polycystic ovari...	OMIM:608594
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr...	OMIM:614700
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Hepatic cysts, Neoplasm of the liver, Elevated hepatic transaminase, Bilia...	ORPHA:100085
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Fatal liver failure ...	OMIM:257220
Perrault Syndrome 3	Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Ele...	OMIM:614129
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Ascites, Cardiomegaly	OMIM:261740
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Apolipoprotein C-Ii Deficiency	Pancreatitis, Splenomegaly, Hepatomegaly	OMIM:207750
Pagod Syndrome	Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypoplasia/a...	ORPHA:991
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia	OMIM:618398
Oeis Complex	Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita...	OMIM:258040
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Urogenital sinus anomaly, Abnormal urine potassium concentration, Adrenocorticotropic hormone exc...	ORPHA:168558
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Wilson Disease	Aminoaciduria, Hyperphosphaturia, Hepatocellular carcinoma, Hepatic steatosis, Hypoparathyroidism...	OMIM:277900
Melkersson-Rosenthal Syndrome	Lymphadenopathy, Oligosacchariduria	ORPHA:2483
Exstrophy-Epispadias Complex	Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Renal duplication, Absent penis, ...	ORPHA:322
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b...	OMIM:306400
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h...	ORPHA:86843
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Urogenital sinus anomaly, Abnormal urine potassium concentration, Adrenocorticotropic hormone exc...	ORPHA:289548
Testicular Agenesis	Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,...	ORPHA:325124
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Hypoplasia of t...	OMIM:616258
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Renal artery aneurysm, Elevated hepatic transaminase, Pancytopenia, Hepatospl...	OMIM:615688
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia	OMIM:619879
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Hematuria, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Neu...	ORPHA:520
Graft Versus Host Disease	Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, C...	ORPHA:39812
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis, Elevated hepatic transaminase	ORPHA:100093
Farber Disease	Hepatic fibrosis, Anemia, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Lym...	ORPHA:333
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Labial hypertrophy, Elevated hepatic transaminase, Hepatic steatosis, Polycystic ovari...	OMIM:269700
Peutz-Jeghers Syndrome	Bladder polyp, Ovarian cyst, Neoplasm of the pancreas, Biliary tract abnormality, Abnormality of ...	OMIM:175200
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ...	ORPHA:171
Multiple Myeloma	Anemia, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder, Lymphadenopathy, Nep...	ORPHA:29073
Familial Mediterranean Fever	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal amyloidosis, Neutrophilia, Leukocytosis...	OMIM:249100
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Townes-Brocks Syndrome 2	Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula	OMIM:617466
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Recurrent urinary tract infections, Urachus fistula...	OMIM:612541
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Axial malrotation of the kidney, Aplasia of the uterus, Horseshoe kidn...	ORPHA:3320
Neuroendocrine Tumor Of The Colon	Chronic noninfectious lymphadenopathy, Elevated hepatic transaminase, Hepatomegaly	ORPHA:100080
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Coccidioidomycosis	Abnormality of the liver, Renal insufficiency, Abnormality of the male genitalia, Abnormality of ...	ORPHA:228123
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Nephroblastoma, Splenomegaly	OMIM:612918
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi...	OMIM:233420
Duodenal Neuroendocrine Tumor	Extrahepatic cholestasis, Hepatic failure, Increased hematocrit, Elevated hepatic transaminase, I...	ORPHA:100076
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Adams-Oliver Syndrome 5	Hypersplenism, Right ventricular hypertrophy, Splenomegaly, Portal vein thrombosis	OMIM:616028
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Premature Ovarian Failure 6	Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu...	OMIM:612310
Malakoplakia	Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Follicular hyperplasia, Prosta...	ORPHA:556
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest...	OMIM:278850
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul...	OMIM:619665
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Ovarian Dysgenesis 5	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:617690
Ileal Neuroendocrine Tumor	Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase, Lymphadenopathy, Iron d...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase, Lymphadenopathy, Iron d...	ORPHA:100077
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocyt...	OMIM:616084
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged ...	OMIM:607625
Premature Ovarian Failure 18	Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul...	OMIM:619203
Myoectodermal Gonadal Dysgenesis Syndrome	Hypoplastic labia majora, Unilateral renal agenesis, Clitoral hypoplasia, Elevated circulating lu...	OMIM:618419
Brucellosis	Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Epididymitis, Glomeru...	ORPHA:1304
Triosephosphate Isomerase Deficiency	Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Macrocyti...	OMIM:615512
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellularity, Renal hypo...	OMIM:614083
Syndromic Diarrhea	Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, Polycystic kidne...	ORPHA:84064
Bronchial Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Hepatic failure, Elevated circulating growth hormone conce...	ORPHA:97287
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Tubulointerstitial nephritis, Nephrotic syndrome, Hepatitis, Neutropenia in presence of anti-neut...	ORPHA:37042
Sarcoidosis	Abnormal lymph node morphology, Increased T cell count, Parotitis, Eosinophilia, Hepatomegaly, De...	ORPHA:797
Immunodeficiency 31C	Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane...	OMIM:614162
Thrombocytopenia-Absent Radius Syndrome	Pancreatic cysts, Vesicoureteral reflux, Anemia, Renal malrotation, Axial malrotation of the kidn...	OMIM:274000
Thymic Aplasia	T lymphocytopenia, Recurrent urinary tract infections, Coombs-positive hemolytic anemia, Atypical...	ORPHA:83471
Normosmic Congenital Hypogonadotropic Hypogonadism	Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy...	ORPHA:432
Poems Syndrome	Increased circulating prolactin concentration, Hypogonadism, Polycythemia, Lymphadenopathy, Throm...	ORPHA:2905
Hypoplasminogenemia	Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis, Nephrolithiasis	ORPHA:722
Premature Ovarian Failure 13	Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus	OMIM:617442
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune...	OMIM:102700
Neuroendocrine Tumor Of The Rectum	Chronic noninfectious lymphadenopathy, Elevated hepatic transaminase, Hepatomegaly	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Chronic noninfectious lymphadenopathy, Elevated hepatic transaminase, Hepatomegaly	ORPHA:100082
Chédiak-Higashi Syndrome	Anemia, Neutropenia, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, L...	ORPHA:167
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Bone marrow hy...	ORPHA:699
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamines, Primary hyperparathyroidism, Elevated urinary vanillylmandelic a...	ORPHA:653
Hyperlipoproteinemia, Type I	Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Pancreatitis, Splenomegaly, Hepatomegaly	OMIM:615947
Gaucher Disease, Type Iiic	Cardiomegaly, Splenomegaly, Pancytopenia, Hepatomegaly	OMIM:231005
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Elevated hepatic...	ORPHA:158048
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit...	ORPHA:90796
Hennekam Syndrome	Pulmonary lymphangiectasia, Lymphopenia, Ectopic kidney, Lymphadenopathy, Horseshoe kidney, Ascit...	ORPHA:2136
Tangier Disease	Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Orange discolored tonsils, Chronic noni...	ORPHA:31150
Primary Sjögren Syndrome	Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Renal insufficiency, Chronic active ...	ORPHA:289390
Perrault Syndrome 4	Bicornuate uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Hypoplasia ...	OMIM:615300
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis	OMIM:617099
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Orchitis, Peritonitis, Splenomegaly	ORPHA:32960
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Vesicoureteral reflux, Ambiguous genitalia, Abnormality of female external genitalia, Increased s...	ORPHA:95699
Neuroendocrine Neoplasm Of Appendix	Adrenocorticotropic hormone excess, Elevated hepatic transaminase, Hepatomegaly, Chronic noninfec...	ORPHA:100079
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Red urine, Jaundice, Pink urine, Hepatomegaly, Cholelithiasis, Thrombocytopenia...	OMIM:263700
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Lymphoid leukemia	ORPHA:79140
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume	OMIM:153670
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron...	OMIM:271520
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst, Uterine leiomyoma	OMIM:617100
Acute Interstitial Pneumonia	Lymphadenopathy, Reduced hematocrit	ORPHA:79126
Crimean-Congo Hemorrhagic Fever	Leukopenia, Hepatic failure, Hemoperitoneum, Ascites, Jaundice, Neutrophilia, Hematuria, Epididym...	ORPHA:99827
Igg4-Related Ophthalmic Disease	Abnormality of the anterior pituitary, Retroperitoneal fibrosis, Sialadenitis, Prostatitis, Abnor...	ORPHA:449563
Carney Triad	Anemia, Pheochromocytoma, Lymphadenopathy, Mediastinal lymphadenopathy, Ascites	ORPHA:139411
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated hepatic transaminase, Iron deficiency anemia, Hepatomegaly, Chronic non...	ORPHA:100075
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Vaginal atresia, Horseshoe kidney, Hepatomegaly, Splenomegaly	OMIM:617088
Idiopathic Hypereosinophilic Syndrome	Anemia, Pancreatitis, Neutrophilia, Generalized lymphadenopathy, Portal fibrosis, Hepatosplenomeg...	ORPHA:3260
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ...	OMIM:600802
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Tubulointerstitial ...	OMIM:607944
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube...	OMIM:202010
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Reynolds Syndrome	Biliary cirrhosis, Jaundice, Elevated hepatic transaminase, Lymphopenia, Cholestasis, Hepatomegal...	OMIM:613471
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Bifid uterus, Hypospadias, Adrenal gland dysgenesis, Accessory spleen...	OMIM:236680
Immunodeficiency 87 And Autoimmunity	Elevated circulating alanine aminotransferase concentration, Decreased CD4:CD8 ratio, Hepatic fai...	OMIM:619573
Adenocarcinoma Of The Anal Canal	Lymphadenopathy, Neoplasm of the liver	ORPHA:424016
Immunodeficiency 55	Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Aicardi-Goutieres Syndrome 7	Anemia, Hemolytic anemia, Nephrotic syndrome, Hepatitis, Generalized lymphadenopathy, Pancytopeni...	OMIM:615846
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia...	ORPHA:90794
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Ureteropelvic junction obstruction, Unilateral renal hypoplas...	ORPHA:2729
Estrogen Resistance	Polycystic ovaries, Breast aplasia, Hypoplasia of the uterus	OMIM:615363
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hypopla...	ORPHA:785
Blau Syndrome	Anemia, Abnormality of the liver, Stage 5 chronic kidney disease, Clear cell renal cell carcinoma...	ORPHA:90340
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Selective Igm Deficiency	Lymphadenitis, Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil anti...	ORPHA:331235
Behçet Disease	Glomerulopathy, Splenomegaly, Lymphadenopathy, Orchitis, Renal insufficiency, Pancreatitis	ORPHA:117
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Generalized lymphadenopathy, Pancytopenia, Abnormal salivary gland morp...	OMIM:181000
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the subman...	ORPHA:79078
Malt Lymphoma	Anemia, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:52417
Pulmonary Capillary Hemangiomatosis	Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:199241
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Decreased mean platel...	OMIM:617718
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:667
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatic failure, Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, A...	ORPHA:77293
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre...	OMIM:619381
Mayer-Rokitansky-Kuster-Hauser Syndrome	Aplasia of the vagina, Hypoplasia of the uterus	OMIM:277000
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Hepatomegaly	OMIM:612132
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Gonadoblastoma, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, ...	ORPHA:99413
Turner Syndrome	High urinary gonadotropin level, Gonadoblastoma, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, ...	ORPHA:881
Mosaic Monosomy X	High urinary gonadotropin level, Gonadoblastoma, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, ...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Gonadoblastoma, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, ...	ORPHA:99226
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Elevated hepatic transaminase, Ep...	OMIM:256040
Leptospirosis	Hepatitis, Acute kidney injury, Jaundice, Cellular urinary casts, Lymphadenopathy, Hepatomegaly, ...	ORPHA:509
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis	ORPHA:457284
Marburg Hemorrhagic Fever	Leukopenia, Renal insufficiency, Jaundice, Elevated hepatic transaminase, Reticulocytosis, Lympho...	ORPHA:99826
Wolf-Hirschhorn Syndrome	Precocious puberty, Biliary tract abnormality, Aplasia of the uterus, Hypospadias, Accessory sple...	OMIM:194190
Pontocerebellar Hypoplasia Type 7	Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor...	ORPHA:284339
Kawasaki Disease	Hepatitis, Jaundice, Cholecystitis, Sterile pyuria, Leukocytosis, Cervical lymphadenopathy, Prote...	ORPHA:2331
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Acromesomelic Dysplasia 3	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:609441
Popliteal Pterygium Syndrome	Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,...	OMIM:119500
Townes-Brocks Syndrome 1	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal insufficiency, Bifid scrotum, Renal dy...	OMIM:107480
Limb-Mammary Syndrome	Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Hypopl...	OMIM:241080
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neoplasm of the thymus, Pituitary cort...	ORPHA:99889
Woodhouse-Sakati Syndrome	Abnormal spermatogenesis, Decreased response to growth hormone stimulation test, Hypogonadism, De...	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	Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee	OMIM:309801
African Trypanosomiasis	Urinary incontinence, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level, He...	ORPHA:3385
Coffin-Siris Syndrome 1	Hydroureter, Ectopic kidney, Aplasia of the uterus, Hypospadias, Cryptorchidism, Renal hypoplasia...	OMIM:135900
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,...	OMIM:201750
Chikungunya	Lymphadenopathy, Cervical lymphadenopathy	ORPHA:324625
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse	OMIM:130050
Plague	Lymphadenitis, Enlarged mesenteric lymph node, Splenomegaly, Hepatomegaly	ORPHA:707
Peters-Plus Syndrome	Hydronephrosis, Bilobate gallbladder, Hypoplasia of the vagina, Hypoplastic labia majora, Clitora...	OMIM:261540
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Polycystic ovaries, Elevated circulating follicle stimulating hormone lev...	ORPHA:572333
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Hypoplastic n...	OMIM:276820
Neu-Laxova Syndrome 1	Bifid uterus, Renal agenesis, Cryptorchidism	OMIM:256520
Peters Plus Syndrome	Hydronephrosis, Renal duplication, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Anteri...	ORPHA:709
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Bladder diverticulum, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse, ...	ORPHA:286
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Pallister-Killian Syndrome	Renal dysplasia, Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majora, Supern...	OMIM:601803
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 hyperplasia	Sugp1^em1(IMPC)Mbp	HET	Late adult
Heart - MPATH pathological process term hypertrophy	Sugp1^em1(IMPC)Mbp	HET	Late adult
Stomach - MPATH pathological process term inflammation	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

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Gene: Sugp1 MGI:1917866

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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MicroCT E9.5

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Histopathology

Gross Morphology Embryo E14.5-E15.5

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Human diseases caused by Sugp1 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data