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Gene: Proser2 MGI:2442238

Gene Summary

Name:

proline and serine rich 2

Synonyms:

5430407P10Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal urinary bladder morphology	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal digit morphology	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	2.70×10^-05
cystolithiasis	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating chloride level	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	4.55×10^-06
thin ventricular wall	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	2.83×10^-06
enlarged lymph nodes	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased startle reflex	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	2.24×10^-06
abnormal spleen morphology	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Proser2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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Human diseases caused by Proser2 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 Proser2 (0 diseases)
Human diseases predicted to be associated with Proser2 (591 diseases)

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

The table below shows human diseases predicted to be associated to Proser2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Squamous Cell Carcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Adenocarcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab...	ORPHA:1802
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Bartter Syndrome, Type 5, Antenatal, Transient	Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu...	OMIM:300971
Kerion Celsi	Lymphadenopathy	ORPHA:499
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Dystonia	ORPHA:139406
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:613090
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating iron concentration, Spleno...	OMIM:613313
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Erlenmeyer flask deformit...	OMIM:610539
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Lymphadenopathy, Clubbing of fingers, Increased B cell count, Hepatosplenomegaly, Increased propo...	OMIM:618982
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Bartter Syndrome, Type 1, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass...	OMIM:601678
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Premature fusion of t...	ORPHA:90794
Roifman Syndrome	Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Noncompaction cardiomyopathy, Sing...	OMIM:616651
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Splenomegaly, Choreoathetosis, Hemo...	OMIM:612126
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hypoplasia of the femoral head, Hepatosple...	OMIM:209950
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Roifman Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Lymphadenopathy, Nonc...	ORPHA:353298
Diarrhea 1, Secretory Chloride, Congenital	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:214700
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, S...	OMIM:602390
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Sandal gap, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenom...	ORPHA:1046
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopath...	ORPHA:100083
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Foot oligodactyly, Splenomegaly, Synda...	OMIM:616589
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp...	ORPHA:89938
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Talipes equinovarus	OMIM:616719
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Dystonia, Thrombocytopenia, S...	ORPHA:79312
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass...	OMIM:241200
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Rhizomelia, Coxa vara, Splenomegaly, Short femoral neck, Proximal f...	OMIM:602271
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Limb undergrowth, Splenomegaly, Abnormal limb bone morphology	ORPHA:2204
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste...	OMIM:602782
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Clubb...	OMIM:620632
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy	OMIM:105200
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial...	ORPHA:85450
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dystonia	ORPHA:77260
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, ...	OMIM:615630
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Joubert Syndrome 33	Splenomegaly, Syndactyly	OMIM:617767
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen...	OMIM:613490
Omenn Syndrome	Abnormal metaphysis morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpho...	ORPHA:39041
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Tremor, Abnormal lymphocyte morphology, Splenomegaly, Palmoplantar...	ORPHA:3162
Rhabdoid Tumor	Hematuria, Lymphadenopathy, Anemia, Thrombocytopenia, Hypercalcemia, Neoplasm of the liver	ORPHA:69077
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Dystonia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Aminoaciduria	ORPHA:664
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Scrub Typhus	Myocarditis, Lymphadenopathy, Tremor, Splenomegaly, Renal insufficiency	ORPHA:83317
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Intellectual Developmental Disorder, Autosomal Recessive 41	Prominent fingertip pads, Hepatomegaly, Clinodactyly of the 5th finger, Splenomegaly	OMIM:615637
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Babesiosis	Clinodactyly of the 5th toe, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, ...	ORPHA:108
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Azoospermia, Hepatocellula...	OMIM:235200
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Cubitus valgus, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatospl...	OMIM:619750
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Hypoplastic acetabulae, Flared iliac wing, Dystonia, Splenomegaly	OMIM:230650
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Hyperextensibi...	OMIM:228000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Castleman Disease	Jaundice, Hematuria, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Elevated circulating C...	ORPHA:160
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia	OMIM:614495
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Athetosis, Ascites...	OMIM:257200
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow hypocellu...	ORPHA:549
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hyperchloremia	OMIM:614492
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Free Sialic Acid Storage Disease	Hepatomegaly, Abnormality of the upper limb, Athetosis, Ascites, Nephrotic syndrome, Splenomegaly...	ORPHA:834
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Neuraminidase Deficiency	Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath...	OMIM:256550
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Pancytopenia, Hypo...	ORPHA:99812
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia	OMIM:614496
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Abnormal skin morphology of the palm, Renal insuff...	ORPHA:83313
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Anemia, Abnormality of t...	ORPHA:464329
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Post...	ORPHA:1655
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, A...	ORPHA:290
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,...	OMIM:608800
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenomegaly, Hyper...	OMIM:619046
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Abnormality of iron homeos...	ORPHA:231222
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly, Short 5th metacarpal	ORPHA:66518
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Opsismodysplasia	Abnormal metaphysis morphology, Hepatomegaly, Squared iliac bones, Hypoplastic pubic bone, Hypopl...	ORPHA:2746
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:300842
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Hyperammonemia, Splenomegaly, Abn...	OMIM:618641
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Ascites, Hyp...	OMIM:235255
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperpho...	OMIM:239200
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial e...	ORPHA:36412
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, H...	OMIM:278000
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Sandhoff Disease, Infantile Form	Mitral valve prolapse, Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Decreased HDL cholester...	ORPHA:77259
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Cholestas...	OMIM:614576
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepatocellular carcinoma, Anisocytosis...	ORPHA:231226
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Broad long bone diaphyses, Short long bone, Car...	ORPHA:79255
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Elbow flexion contracture, Mucopolysacchariduria, Hyp...	OMIM:618440
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Hepatomegaly, Flared metaphysis, Delayed epiphyseal ossification, M...	OMIM:602557
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Enlargement of the wrists, Delaye...	ORPHA:289157
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Papa Syndrome	Lymphadenopathy, Proteinuria	ORPHA:69126
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Increased circulating ferritin concentr...	ORPHA:465508
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Aredyld Syndrome	Hepatomegaly, Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Splenomegaly, Br...	ORPHA:1133
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Lower limb undergrowth, Sple...	ORPHA:3035
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Erlenm...	OMIM:230800
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Jaundice, Hepat...	ORPHA:231214
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Talipes equinovarus	OMIM:619036
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Sarcoidosis, Susceptibility To, 2	Clubbing, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Acetabular dysplasia, Cl...	OMIM:617303
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Metaphyseal sclerosis, Clubbing of fingers, Visceromegaly, Ascites...	ORPHA:2905
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Tremor, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc	OMIM:201100
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Exaggerated startle response, Increased urinary N-acetylgluco...	OMIM:268800
H Syndrome	Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Azoospermia, Camptodactyly, Decreased tes...	ORPHA:168569
Cryoglobulinemic Vasculitis	Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Single transverse palmar crease, Hypoplasia of the th...	OMIM:612541
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Hereditary Orotic Aciduria	Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Hip dy...	ORPHA:30
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent foramen ovale, Tremor, Exaggerated startle response, Hydronephrosis, Atrial septal defect,...	OMIM:620327
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Clubbing, Portal hypertension, Thrombocytopenia, Splenomegaly,...	OMIM:620367
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Single transverse palmar crease, Hepatomegaly, Sp...	OMIM:618541
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Mucopolysaccharidur...	ORPHA:583
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Sialuria	Increased level of N-acetylneuraminic acid in urine, Hepatomegaly, 2-3 toe syndactyly, Hypoplasti...	OMIM:269921
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Increased total iron binding capacity, Abnormal blood inorganic cation co...	ORPHA:309854
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,...	ORPHA:398124
Q Fever	Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Abnormal heart valve morphology, P...	ORPHA:781
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Tremor, Leukopenia, Splenomega...	OMIM:214500
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
8P11.2 Deletion Syndrome	Talipes equinovarus, Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve ...	ORPHA:251066
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He...	ORPHA:294
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Ascites, Nephrotic syndrome, Pericardial effusion, Nephritis, Leukope...	ORPHA:93552
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Short-Rib Thoracic Dysplasia 12	Short long bone, Ascites, Splenomegaly, Cystic renal dysplasia, Short finger, Patent foramen oval...	OMIM:269860
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Hepatitis, Nephrotic syndrome, Eosinophilia, Renal i...	ORPHA:139402
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy...	ORPHA:29073
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Hepatomegaly, Anemia, Pancytopenia, Flared metaphysis, Hypocalcemia, Coxa vara, T...	OMIM:259700
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias...	OMIM:614866
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Abnormal hip bone morphology, Epiphyseal stippling, Ascites, Mucopoly...	ORPHA:584
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat...	ORPHA:449395
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy, Clubbing of fingers	ORPHA:199241
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Trichohepatoenteric Syndrome 1	Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, I...	OMIM:222470
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Tremor, Bowi...	ORPHA:667
Acute Promyelocytic Leukemia	Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit...	OMIM:251880
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the hand, Abnormality of the wrist, Anemia, Lymphadenopathy, Abnormal shoulder mor...	ORPHA:85408
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Finger syndactyly, Hypocalcemia, Ascites, Pericardial effusion, ...	ORPHA:2136
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Renal hypoplasia, Splenomegaly, Sandal gap	OMIM:612918
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint...	ORPHA:32960
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Hurler-Scheie Syndrome	Hepatomegaly, Dermatan sulfate excretion in urine, Camptodactyly of finger, Thenar muscle atrophy...	OMIM:607015
Graft Versus Host Disease	Limited elbow movement, Dupuytren contracture, Jaundice, Lymphadenopathy, Hemophagocytosis, Acute...	ORPHA:39812
Farber Disease	Abnormality of the hand, Short finger, Abnormality of the wrist, Anemia, Lymphadenopathy, Intrahe...	ORPHA:333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Abnormality of iron homeost...	ORPHA:84064
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell...	ORPHA:167
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular...	ORPHA:2137
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec...	ORPHA:100093
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Camurati-Engelmann Disease	Hepatomegaly, Anemia, Abnormal femur morphology, Abnormal tibia morphology, Abnormal diaphysis mo...	ORPHA:1328
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal irregularity, Short iliac bones, Lymphadenopathy, Metaphyseal sclerosis, Tubulointers...	OMIM:607944
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Congenital hip dislocation, Epiphys...	OMIM:617913
Wilson Disease	Portal fibrosis, Ascites, Limb dystonia, Splenomegaly, High nonceruloplasmin-bound serum copper, ...	OMIM:277900
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,...	OMIM:232220
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Broad thumb, Splenomegaly, Hypospadias...	ORPHA:373
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymphadenopathy, An...	ORPHA:635
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acid...	ORPHA:79240
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo...	OMIM:276700
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Chops Syndrome	Patent foramen ovale, Vesicoureteral reflux, Anomalous pulmonary venous return, Cryptorchidism, S...	OMIM:616368
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan...	OMIM:615688
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Tibial bowing, Nephrotic syndrome, Prolonged ...	ORPHA:499009
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy	OMIM:620232
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Radial deviation of finger, Splenomegaly, Syndactyly, Clinodactyly, Cy...	OMIM:249000
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Dyston...	OMIM:257220
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Flexion contracture ...	OMIM:256040
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Proximal placement of thumb, Bifid scrotum, Splenomegaly, Small scrotu...	OMIM:270400
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ...	ORPHA:228123
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ...	OMIM:610199
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Cone-shaped epiphysis, Hepatomegaly, Atrioventricular canal defect, Short clavi...	OMIM:617088
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Clitoral hypertrop...	OMIM:269700
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome...	ORPHA:699
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Ascites, Abnor...	ORPHA:538
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephroli...	OMIM:608594
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Hyperlipidemia, Elevated circ...	ORPHA:565612
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Exaggerated startle response, Hand clenching, Hip contracture, Overlap...	OMIM:617301
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Short 5th finger, Short finger, Hypospadias, Abnormality of the palmar crea...	OMIM:619522
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El...	ORPHA:97287
Cranioectodermal Dysplasia 2	Portal fibrosis, Cholestasis, Biliary cirrhosis, Mesomelia, Splenomegaly, Syndactyly, Left ventri...	OMIM:613610
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Decreased circulating copper co...	OMIM:300972
Stiff-Person Syndrome	Anemia, Opisthotonus, Exaggerated startle response	OMIM:184850
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites	ORPHA:139411
Cystinosis, Nephropathic	Generalized aminoaciduria, Splenomegaly, Hypophosphatemia, Stage 5 chronic kidney disease, Reduce...	OMIM:219800
Gaucher Disease Type 3	Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Proteus Syndrome	Macrodactyly, Enlarged kidney, Abnormal finger morphology, Upper limb asymmetry, Lymphangioma, Sp...	ORPHA:744
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin...	ORPHA:3260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Elevated circulating cr...	OMIM:610717
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, Hypertrophic ca...	OMIM:615846
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Cherubism	Marcus Gunn pupil, Submandibular lymph node enlargement	OMIM:118400
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Spastic Tetraplegia And Axial Hypotonia, Progressive	Overlapping toe, Exaggerated startle response	OMIM:618598
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Hyperextensibility of the finger joints, Single transverse palmar crease, Pos...	ORPHA:521426
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Hypertriglyceridemia, Jaundice, Hepatomegaly, ...	OMIM:619573
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp...	OMIM:608643
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Clinodactyly of the 5th finger, Exaggerated startle response	OMIM:618056
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis, E...	ORPHA:100078
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Hyperammonemia, Leukopenia,...	OMIM:222700
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Increased circulating prolactin concentration, Patent foramen ovale, Vesicoureteral reflu...	ORPHA:438213
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproductive system morphology, En...	ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Transposition of the great arteries, Elevated circulating creatine kinase c...	OMIM:253800
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon...	OMIM:619991
Crimean-Congo Hemorrhagic Fever	Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Pancytopenia, Neutrophil...	ORPHA:99827
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Exaggerated startle response, Hypernatremia, Dystonia, Thr...	OMIM:620423
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Tay-Sachs Disease	Limited elbow extension, Distal upper limb muscle weakness, Increased serum beta-hexosaminidase, ...	ORPHA:845
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Abno...	ORPHA:99826
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentr...	ORPHA:2331
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Cardiomyopathy, Flare...	OMIM:312870
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Biliary cirrhosis, Splenomeg...	OMIM:613471
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Anoperineal fistula, Elevated circulating C-reactive protein concentrati...	OMIM:619381
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Hepatomegaly, Anemia, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Exaggerated startle response, Postaxial poly...	OMIM:617527
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of...	ORPHA:449563
Behçet Disease	Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Abnormal myocardium morp...	ORPHA:117
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Camptodactyly of finge...	ORPHA:90340
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v...	ORPHA:100075
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Exaggerated startle response, Lacticaciduria	OMIM:620451
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Truncus arteriosus, Hypoplasia o...	OMIM:188400
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti...	ORPHA:289390
Asparagine Synthetase Deficiency	Large hands, Tremor, Hypoasparaginemia, Exaggerated startle response	OMIM:615574
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Tricuspid stenosis, Chronic n...	ORPHA:100079
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi...	ORPHA:509
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Leukopenia, Proteinuria, Thrombocytopenia, Hemolytic anemia, ...	ORPHA:536
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Riddle Syndrome	Enuresis nocturna, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration	ORPHA:420741
African Trypanosomiasis	Myocarditis, Jaundice, Urinary incontinence, Lymphadenopathy, Hepatomegaly, Tremor, Abnormal prol...	ORPHA:3385
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo...	ORPHA:99889
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short femur, Short humerus, Tapered finger, Exaggerated startle response	OMIM:618367
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Plague	Hepatomegaly, Lymphadenitis, Splenomegaly, Abnormality of the elbow, Enlarged mesenteric lymph no...	ORPHA:707

Histopathology

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

There is no histopathology data for Proser2

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 Proser2.

No publications found that use IMPC mice or data for Proser2.

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MGI Allele	Allele Type	Produced
Proser2^{tm39280(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Proser2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Proser2^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Proser2 MGI:2442238

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Proser2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data