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Gene: Cdca7l MGI:2384982

Gene Summary

Name:

cell division cycle associated 7 like

Synonyms:

JPO2

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 lymph node morphology	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating cholesterol level	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	6.10×10^-07
abnormal kidney morphology	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Cdca7l^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased prepulse inhibition	Cdca7l^em1(IMPC)Mbp	HOM	Early adult	6.68×10^-05
small kidney	Cdca7l^em1(IMPC)Mbp	HOM	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 Dorso Ventral

48 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

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Cdca7l 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 Cdca7l (0 diseases)
Human diseases predicted to be associated with Cdca7l (532 diseases)

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

The table below shows human diseases predicted to be associated to Cdca7l by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol...	OMIM:232700
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Kerion Celsi	Lymphadenopathy	ORPHA:499
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, Decreased circu...	OMIM:616829
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Decreased HDL cholesterol con...	OMIM:278000
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of CD4-positive helper T cell...	ORPHA:543
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Galactokinase Deficiency	Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Increased level of gala...	ORPHA:79237
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
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
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
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
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Increased circulating iron concentration, Splenomegaly, Elevated...	OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia	ORPHA:664
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati...	OMIM:605814
Cog4-Cdg	Thrombocytopenia, Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen...	OMIM:613490
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Increased C-peptide level, Hypercholesterolemia	OMIM:620211
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat...	ORPHA:247585
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acid...	ORPHA:79240
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffus...	OMIM:616730
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep...	OMIM:620454
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Argininuria, Decreased HDL cholesterol concentration, Decrease...	ORPHA:470
Rhabdoid Tumor	Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Neoplasm of the liver	ORPHA:69077
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, S...	OMIM:607765
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live...	ORPHA:69663
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal lymph node morphology, Lymphadeno...	ORPHA:85450
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul...	OMIM:602390
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Decreased circulating copper co...	OMIM:300972
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator...	ORPHA:186
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Elevated circulating C...	ORPHA:160
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Laron Syndrome	Hypercholesterolemia, Hypoplasia of penis	ORPHA:633
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Xanthelasma, Hypertriglyceridemia, Jaundice, Anemia, Steatorrhea, Hyperkalemi...	ORPHA:275761
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Hepatomeg...	ORPHA:829
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
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
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome...	ORPHA:848
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch...	ORPHA:412
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffus...	OMIM:618348
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Increased C-peptide level, H...	ORPHA:528
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hypocellular...	ORPHA:549
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
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
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat...	ORPHA:64753
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, En...	ORPHA:79259
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi...	OMIM:613812
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia, Abnormality of the ureter	ORPHA:819
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney...	OMIM:208540
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Decreased HDL cholester...	ORPHA:77259
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cholelithiasis, Proximal tubu...	ORPHA:231222
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He...	ORPHA:294
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Splenomegaly, Proteinuria, Renal insufficiency	ORPHA:36412
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Hypercholesterolemia	ORPHA:401923
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H...	OMIM:232220
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Increased circulating iron concentrat...	OMIM:235200
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Hyperammonemia, Splenomegaly, Hep...	OMIM:618641
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T...	ORPHA:31150
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis	ORPHA:99812
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy...	ORPHA:29073
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis, Left ventricular hypertrophy	ORPHA:90065
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit...	OMIM:251880
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular...	ORPHA:2137
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
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy...	ORPHA:809
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Lymphopenia, Ascites, Nephrotic syndrome, Nephritis, Thrombocytopenia...	ORPHA:93552
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy, Renal insufficiency, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Hepatitis,...	ORPHA:139402
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia, Hypospadias	OMIM:610644
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Renal tubular acidosis, Hepatocellular carcinoma, Cholestasis, R...	OMIM:118450
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Spl...	OMIM:239200
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia...	OMIM:151660
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec...	ORPHA:100093
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Pancreatitis, Proteinuria, Micropenis	OMIM:619471
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Isolated Biliary Atresia	Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proli...	ORPHA:30391
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
H Syndrome	Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Histiocyt...	ORPHA:168569
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinine concentration, Cholecyst...	ORPHA:449395
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ...	OMIM:610199
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Hyperbilirubinemia, Chronic hepatit...	ORPHA:39812
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulating C-rea...	ORPHA:50918
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome...	OMIM:602782
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Micropenis	OMIM:176270
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Hepatosplenomegaly, Splenomegaly, Thrombocytope...	ORPHA:781
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep...	OMIM:617913
Isolated Thyroid-Stimulating Hormone Deficiency	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Hypercholesterolem...	ORPHA:90674
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell...	ORPHA:167
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan...	OMIM:615688
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hypercholesterolemia, Calcinosis, Hepatomegaly, Hyperlipidemia	OMIM:248370
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hematuria, Hypokalemia, Hypercholesterolemia, Hypercalciuria, Nephrolithiasis, Hyponatrem...	ORPHA:534
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:2905
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
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
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
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Hypocalcemia, Ascites, Lymphangioma, Splenomegaly, Pulmonary lym...	ORPHA:2136
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Splen...	ORPHA:342
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Ascites, Prolonged neonatal ja...	OMIM:619534
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundice, Hepatospl...	ORPHA:499009
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Hyperammonemia, Leukopenia,...	OMIM:222700
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome...	ORPHA:333
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating cortisol level	ORPHA:97287
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Carney Triad	Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co...	OMIM:610717
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Multiple renal cysts, P...	ORPHA:538
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Malakoplakia	Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin...	ORPHA:556
Reynolds Syndrome	Steatorrhea, Jaundice, Hepatomegaly, Calcinosis, Hyperbilirubinemia, Cholestasis, Biliary cirrhos...	OMIM:613471
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegal...	ORPHA:32960
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Brucellosis	Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein con...	ORPHA:1304
Ileal Neuroendocrine Tumor	Lymphadenopathy, Hydronephrosis, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypercholesterolemia, Elevated circulating crea...	OMIM:309000
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Neph...	OMIM:615846
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Renal insufficiency, Eosinophilia, Re...	ORPHA:449432
Sarcoidosis	Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ...	ORPHA:797
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati...	ORPHA:3260
Coccidioidomycosis	Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormality of the spleen, Peritoniti...	ORPHA:228123
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Abno...	ORPHA:99826
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Hypercholesterolemia, Recurrent pancreatitis	OMIM:606721
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Splenomegaly	ORPHA:667
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Acute pancreatitis, Leukocytosi...	ORPHA:99827
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
Steinert Myotonic Dystrophy	Hypercholesterolemia, Cholelithiasis	ORPHA:273
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Ele...	OMIM:256040
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Biliary cirrho...	ORPHA:289390
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Splenomegaly, Generalize...	OMIM:181000
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Thrombocyto...	ORPHA:509
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele...	ORPHA:653
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentration, Leukoc...	ORPHA:2331
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy, Primary hypercortisolism	ORPHA:100079
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery stenosis, Hepatic steatosis...	ORPHA:391665
Blau Syndrome	Anemia, Lymphadenopathy, Splenomegaly, Abnormality of the liver, Stage 5 chronic kidney disease, ...	ORPHA:90340
Behçet Disease	Lymphadenopathy, Pancreatitis, Splenomegaly, Renal insufficiency	ORPHA:117
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration...	ORPHA:449563
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos...	ORPHA:99889
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy, Tubulointerstitial nephritis	ORPHA:79078
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Hepatosplenomegaly, Splenomegaly, ...	ORPHA:3385
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625

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 Cdca7l

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdca7l.

No publications found that use IMPC mice or data for Cdca7l.

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MGI Allele	Allele Type	Produced
Cdca7l^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cdca7l^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cdca7l^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue
Cdca7l^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cdca7l^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cdca7l MGI:2384982

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Cdca7l mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data