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Gene: 1700025G04Rik MGI:1916649

Gene Summary

Name:

RIKEN cDNA 1700025G04 gene

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged lymph nodes	1700025G04Rik^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	1700025G04Rik^em1(IMPC)Mbp	HOM	Late adult	0.00
anophthalmia	1700025G04Rik^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	1700025G04Rik^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	1700025G04Rik^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating bilirubin level	1700025G04Rik^em1(IMPC)Mbp	HOM	Early adult	1.30×10^-06
abnormal vocalization	1700025G04Rik^em1(IMPC)Mbp	HOM	Early adult	1.04×10^-05
increased red blood cell distribution width	1700025G04Rik^em1(IMPC)Mbp	HOM	Early adult	3.99×10^-06
abnormal eye morphology	1700025G04Rik^em1(IMPC)Mbp	HOM	Late adult	0.00
increased mean corpuscular volume	1700025G04Rik^em1(IMPC)Mbp	HOM	Early adult	1.55×10^-17

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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.

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XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Lateral Orientation

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XRay Images Whole Body Dorso Ventral

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Human diseases caused by 1700025G04Rik 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 1700025G04Rik (0 diseases)
Human diseases predicted to be associated with 1700025G04Rik (658 diseases)

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

The table below shows human diseases predicted to be associated to 1700025G04Rik by phenotypic similarity.

Disease	Matching phenotypes	Source
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
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
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp...	OMIM:237800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti...	OMIM:601775
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Malaria	Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg...	OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce...	OMIM:224120
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti...	OMIM:235700
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h...	OMIM:300908
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cholestasis, Progressive Familial Intrahepatic, 12	Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbiliru...	OMIM:620010
Spherocytosis, Type 1	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Kerion Celsi	Lymphadenopathy	ORPHA:499
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, S...	OMIM:615234
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret...	ORPHA:71275
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype...	OMIM:619868
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Increased serum bile acid concentration, Iron deficiency a...	OMIM:616278
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi...	OMIM:617021
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti...	OMIM:266200
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Harderoporphyria	Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen...	OMIM:618892
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Hereditary Elliptocytosis	Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper...	ORPHA:288
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hypometh...	ORPHA:2169
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Burkitt Lymphoma	Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ...	ORPHA:543
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati...	ORPHA:300298
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot...	OMIM:232800
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardi...	ORPHA:858
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
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
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly	ORPHA:90037
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
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, Enlarged...	OMIM:209950
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Hereditary Spherocytosis	Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb...	ORPHA:822
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase...	OMIM:267700
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Biliary Atresia, Extrahepatic	Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia	OMIM:210500
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia	OMIM:613885
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia	OMIM:616299
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili...	ORPHA:91547
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Anencephaly 2	Anophthalmia	OMIM:619452
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Glycogen Storage Disease Xii	Normocytic anemia, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity, Nor...	OMIM:611881
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Conjugated hyperbilirubinemia	OMIM:243300
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl...	ORPHA:231226
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated hyperbiliru...	OMIM:618278
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:269920
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hepatoportal Sclerosis	Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl...	ORPHA:64743
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Fetal Cytomegalovirus Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia	ORPHA:294
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy, Aniridia	ORPHA:654
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine...	OMIM:614300
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Congenital Bile Acid Synthesis Defect Type 2	Hyperbilirubinemia, Extramedullary hematopoiesis, Abnormal serum bile acid concentration, Conjuga...	ORPHA:79303
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis	OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi...	OMIM:603553
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he...	ORPHA:231222
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia, Splenomegaly	OMIM:235555
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu...	ORPHA:1667
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia	ORPHA:95715
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:618528
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia	ORPHA:529799
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia	ORPHA:529808
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic...	OMIM:614034
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Trisomy 13	Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P...	ORPHA:79277
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
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
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Hypoplastic spleen, Anophthalmia	OMIM:601186
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Osteopetrosis, Autosomal Recessive 5	Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos...	OMIM:259720
Beta-Thalassemia Major	Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me...	ORPHA:231214
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia	ORPHA:90322
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia...	OMIM:612783
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 2	Splenomegaly, Conjugated hyperbilirubinemia	OMIM:601847
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasi...	ORPHA:290
Pearson Marrow-Pancreas Syndrome	Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulocytopenia, Sid...	OMIM:557000
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia	OMIM:608885
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Cholestasis, Progressive Familial Intrahepatic, 1	Splenomegaly, Conjugated hyperbilirubinemia	OMIM:211600
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:607765
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb...	ORPHA:90038
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Lathosterolosis	Anisopoikilocytosis, Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirub...	OMIM:607330
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
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
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Meckel Syndrome	Microphthalmia, Accessory spleen, Anophthalmia, Asplenia, Congenital hepatic fibrosis, Cystic liv...	ORPHA:564
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hyperbilirubinemia, Abnorma...	ORPHA:14
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration	OMIM:614886
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen...	OMIM:251880
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen...	OMIM:619644
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 5	Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia	OMIM:617049
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ...	OMIM:619662
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Boutonneuse Fever	Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy	ORPHA:83313
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia	ORPHA:95716
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala...	OMIM:227810
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia, Splenomegaly	OMIM:613812
Trisomy 1Q	Anophthalmia	ORPHA:261344
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio...	OMIM:617156
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Abnormality of the spleen, Anophthalmia	ORPHA:2538
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises	ORPHA:168577
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal...	ORPHA:3008
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Conjugated hyperbilirubinemia	OMIM:208085
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abdominal mass, Thrombocytopenia,...	ORPHA:160
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act...	ORPHA:447
Cockayne Syndrome Type 1	Hepatomegaly, Anemia, Anophthalmia	ORPHA:90321
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co...	OMIM:608836
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
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Graft Versus Host Disease	Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis	ORPHA:39812
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S...	ORPHA:829
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cystic Echinococcosis	Eosinophilia, Hyperbilirubinemia, Splenic cyst	ORPHA:400
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Adams-Oliver Syndrome 6	Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Holoprosencephaly	Microphthalmia, Abnormality of the spleen, Anophthalmia	ORPHA:2162
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Caroli Syndrome	Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbilirubinemia, Hy...	ORPHA:480520
Fumarase Deficiency	Hyperbilirubinemia, Polycythemia	OMIM:606812
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thr...	ORPHA:540
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia	ORPHA:348
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ...	ORPHA:549
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Wilson Disease	Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro...	OMIM:277900
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc	OMIM:617093
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Autoimmune Hepatitis	Increased total bilirubin, Splenomegaly	ORPHA:2137
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He...	OMIM:615895
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Ascites, Hepatomegaly, Splenomegaly	ORPHA:36412
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia	ORPHA:163979
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis	OMIM:618641
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Fibular Hemimelia	Thrombocytopenia, Anophthalmia	ORPHA:93323
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis	ORPHA:99812
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin...	ORPHA:97289
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid conc...	ORPHA:567983
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a...	ORPHA:809
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy	OMIM:616028
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Senior-Boichis Syndrome	Increased total bilirubin, Hepatosplenomegaly, Anemia	ORPHA:84081
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
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
Reynolds Syndrome	Hyperbilirubinemia, Calcinosis, Splenomegaly, Lymphopenia	OMIM:613471
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci...	OMIM:614866
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia	ORPHA:90673
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Autoinflammatory Disease, Systemic, With Vasculitis	Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Leukocytos...	OMIM:620376
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,...	ORPHA:50918
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia	OMIM:605627
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:2905
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal thymus morphology, Anophthalmia	OMIM:219000
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbumi...	ORPHA:186
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia, Hepatitis, Lymphadenopathy	ORPHA:139402
Degcags Syndrome	Anemia, Iron deficiency anemia, Pancytopenia, Hyperbilirubinemia, Abnormal spleen morphology, Leu...	OMIM:619488
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Ogden Syndrome	Hyperbilirubinemia, Polycythemia, Thrombocytopenia, Iron deficiency anemia	OMIM:300855
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:781
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia	ORPHA:90674
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome...	OMIM:602782
Liver Disease, Severe Congenital	Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalaninemia, Hypona...	OMIM:619991
Carney Triad	Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic a...	ORPHA:93552
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Isolated Biliary Atresia	Splenomegaly, Conjugated hyperbilirubinemia	ORPHA:30391
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr...	OMIM:615688
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia	OMIM:613658
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome...	ORPHA:333
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili...	ORPHA:99829
Cranioectodermal Dysplasia 2	Hyperbilirubinemia, Splenomegaly, Polysplenia	OMIM:613610
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia	OMIM:229600
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Hardikar Syndrome	Hyperbilirubinemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism	OMIM:301068
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy, Abdominal mass	ORPHA:635
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy...	ORPHA:499009
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:29073
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia	OMIM:218700
H Syndrome	Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis, Microcytic anemia	ORPHA:168569
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos, Lymphopenia, Aplasia/Hypoplasia of the t...	OMIM:214800
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:97287
Branchiooculofacial Syndrome	Microphthalmia, Duplication of internal organs, Anophthalmia, Ectopic thymus tissue	OMIM:113620
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia	OMIM:300166
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia	OMIM:305600
Hennekam Syndrome	Lymphadenopathy, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati...	ORPHA:3260
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Splenomegaly, Peritonitis	ORPHA:342
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:32960
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Aplasia of the thymus	OMIM:620186
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul...	OMIM:619534
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Ascites	ORPHA:538
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Brucellosis	Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Leukopenia, Splenomegaly, Thr...	ORPHA:1304
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449432
Coccidioidomycosis	Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormality of the spleen, Peritoniti...	ORPHA:228123
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocytosis, Ascites,...	ORPHA:99827
Igg4-Related Kidney Disease	Enlarged kidney, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Lymphadenitis, Abnormal m...	ORPHA:449395
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Generalized lymphadenopathy	OMIM:181000
Sarcoidosis	Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ...	ORPHA:797
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Biliary cirrho...	ORPHA:289390
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Behçet Disease	Lymphadenopathy, Pancreatitis, Splenomegaly	ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia	OMIM:256040
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100079
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449563
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Blau Syndrome	Abnormality of the liver, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:90340
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy...	ORPHA:99826
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy	ORPHA:79078
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hepatitis	ORPHA:509
Johanson-Blizzard Syndrome	Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration	OMIM:243800
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos...	ORPHA:99889
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:3385

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 1700025G04Rik

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 1700025G04Rik.

No publications found that use IMPC mice or data for 1700025G04Rik.

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MGI Allele	Allele Type	Produced
1700025G04Rik^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
1700025G04Rik^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: 1700025G04Rik MGI:1916649

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 1700025G04Rik mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data