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Gene: 1700025G04Rik MGI:1916649

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Gene Summary

Name:
RIKEN cDNA 1700025G04 gene
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen 1700025G04Rikem1(IMPC)Mbp HOM Late adult 0.00
anophthalmia 1700025G04Rikem1(IMPC)Mbp HOM Late adult 0.00
increased red blood cell distribution width 1700025G04Rikem1(IMPC)Mbp HOM Early adult 3.91×10-06
abnormal vocalization 1700025G04Rikem1(IMPC)Mbp HOM Early adult 1.16×10-05
abnormal spleen morphology 1700025G04Rikem1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology 1700025G04Rikem1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes 1700025G04Rikem1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology 1700025G04Rikem1(IMPC)Mbp HOM Late adult 0.00
increased mean corpuscular volume 1700025G04Rikem1(IMPC)Mbp HOM Early adult 2.39×10-17
increased circulating bilirubin level 1700025G04Rikem1(IMPC)Mbp HOM Early adult 6.62×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... 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
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... 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
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
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
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Kerion Celsi
Lymphadenopathy ORPHA:499
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Matthew-Wood Syndrome
Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann... ORPHA:2470
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microphthalmia, Ascites,... ORPHA:858
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Enlarged kidney OMIM:613885
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Galactosemia Iii
Splenomegaly, Jaundice, Hepatomegaly OMIM:230350
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Anencephaly 2
Anophthalmia OMIM:619452
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Nephroblastoma
Aniridia, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly ORPHA:172
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia OMIM:607616
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum b... ORPHA:79303
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hyperbilirubinemia OMIM:235555
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly OMIM:616719
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Cholesteryl Ester Storage Disease
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly ORPHA:75234
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... OMIM:618935
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Joubert Syndrome 33
Splenomegaly OMIM:617767
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... ORPHA:169090
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen OMIM:601186
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia ORPHA:90322
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... ORPHA:98850
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... OMIM:557000
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of the iris, Microphthalmia, Thr... ORPHA:290
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Hemochromatosis, Type 2A
Splenomegaly, Cirrhosis, Hepatomegaly OMIM:602390
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia OMIM:607765
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Meckel Syndrome
Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancr... ORPHA:564
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... OMIM:619644
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... ORPHA:14
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... ORPHA:2686
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hyperbilirubinemia OMIM:613812
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Felty Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr... ORPHA:47612
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... OMIM:277900
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly ORPHA:2538
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
Papa Syndrome
Lymphadenopathy ORPHA:69126
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... OMIM:278000
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Hepatomegaly ORPHA:2414
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Graft Versus Host Disease
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Thrombocytopenia OMIM:208085
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Anemia ORPHA:90321
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Splenic cyst ORPHA:400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... OMIM:304790
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Holoprosencephaly
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2162
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... OMIM:616005
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly OMIM:612387
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Caroli Syndrome
Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm... ORPHA:480520
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia OMIM:617591
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Legionnaires Disease
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... ORPHA:549
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis OMIM:618641
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ... ORPHA:98813
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Leukocytosis, Acute leukemia, Lymphadenopathy ORPHA:99812
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy ORPHA:36412
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... ORPHA:809
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... ORPHA:97289
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc... ORPHA:567983
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Senior-Boichis Syndrome
Hepatosplenomegaly, Anemia, Increased total bilirubin ORPHA:84081
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Caroli Disease
Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating alpha-fetoprotein... ORPHA:53035
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, 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 natural killer cells, Absent p... OMIM:600802
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy OMIM:616028
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phytanic acid concentration, He... OMIM:614866
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Reynolds Syndrome
Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia OMIM:613471
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp... OMIM:300755
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... ORPHA:50918
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Fraser Syndrome 1
Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos OMIM:219000
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia ORPHA:33226
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lym... OMIM:602782
Ogden Syndrome
Thrombocytopenia, Iron deficiency anemia, Polycythemia, Hyperbilirubinemia OMIM:300855
Degcags Syndrome
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... OMIM:619488
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Carney Triad
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy ORPHA:139411
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy ORPHA:139402
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Buphth... OMIM:610199
Q Fever
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn... ORPHA:781
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto... ORPHA:93552
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... OMIM:615688
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... ORPHA:333
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Cranioectodermal Dysplasia 2
Splenomegaly, Polysplenia, Hyperbilirubinemia OMIM:613610
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Hardikar Syndrome
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia OMIM:301068
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Poems Syndrome
Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly ORPHA:2905
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Multiple Myeloma
Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... ORPHA:2035
H Syndrome
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Enlarged kidney, Histiocytosis ORPHA:168569
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement OMIM:620233
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia, Lymphopenia, Aplasia/Hypoplasia of the t... OMIM:214800
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in... ORPHA:37042
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Branchiooculofacial Syndrome
Microphthalmia, Ectopic thymus tissue, Anophthalmia, Duplication of internal organs OMIM:113620
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Cherubism
Submandibular lymph node enlargement OMIM:118400
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Familial Mediterranean Fever
Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis ORPHA:342
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Hennekam Syndrome
Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Ascites ORPHA:2136
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy ORPHA:32960
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... ORPHA:3260
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Unconjugated hyperbilirubinemia OMIM:620186
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Brucellosis
Hepatomegaly, Liver abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad... ORPHA:1304
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy ORPHA:449432
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Lymphangioleiomyomatosis
Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Coccidioidomycosis
Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopath... ORPHA:228123
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic... ORPHA:99827
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:181000
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ... ORPHA:797
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti... ORPHA:289390
Behçet Disease
Splenomegaly, Pancreatitis, Lymphadenopathy ORPHA:117
Igg4-Related Kidney Disease
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Lymphadenop... ORPHA:449395
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Lymphadenopathy, Pancreatitis ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia OMIM:256040
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Kawasaki Disease
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis ORPHA:2331
Blau Syndrome
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy ORPHA:90340
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L... ORPHA:99826
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy ORPHA:79078
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Abnormal lymp... ORPHA:99889
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy 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

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
1700025G04Riktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
1700025G04Rikem1(IMPC)Mbp Exon Deletion Mice, Tissue

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