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Gene: Tcaf2 MGI:2385258

Gene Summary

Name:

TRPM8 channel-associated factor 2

Synonyms:

Fam115c

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
anophthalmia	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skeletal muscle morphology	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased hematocrit	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	5.34×10^-06
increased hemoglobin content	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	2.90×10^-06
enlarged thymus	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased erythrocyte cell number	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	6.42×10^-08
abnormal lymph node morphology	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Tcaf2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Tcaf2 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 Tcaf2 (0 diseases)
Human diseases predicted to be associated with Tcaf2 (644 diseases)

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

The table below shows human diseases predicted to be associated to Tcaf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Myopathy	ORPHA:33574
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Kerion Celsi	Lymphadenopathy	ORPHA:499
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Microphthalmia, Ascites, Thrombocy...	ORPHA:858
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas...	ORPHA:2470
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Anophthalmia, Congenital diaphragmatic hernia	OMIM:615524
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Myopathy, Thrombocytopenia	OMIM:612783
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
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
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Myositis, Splenomegaly, Flexi...	OMIM:619183
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Hepatomegaly, Lymphadenopathy	ORPHA:56425
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt...	OMIM:150550
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Isolated Anencephaly	Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Hypermanganesemia With Dystonia 1	Hepatomegaly, Polycythemia, Cirrhosis	OMIM:613280
Abcd Syndrome	Polycythemia	OMIM:600501
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Poems Syndrome	Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly, Increased circulating prol...	ORPHA:2905
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul...	ORPHA:309854
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Myopathy, ...	ORPHA:169090
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Niemann-Pick Disease, Type A	Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, L...	OMIM:257200
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Joint contracture, Flexion contracture, Hepatomegaly	OMIM:608540
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy...	OMIM:607594
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Gaucher Disease Type 2	Splenomegaly, Flexion contracture, Hepatomegaly	ORPHA:77260
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumulation in liver, Hepatosplenome...	OMIM:616828
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Tularemia	Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical l...	ORPHA:3392
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Sézary Syndrome	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:3162
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Enlarged kidney	OMIM:613885
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Rhabdomyolysis, Myopathy, Erythroid hyperplasia	OMIM:300653
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of the iris, Microphthalmia, Thr...	ORPHA:290
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Microphthalmia, Syndromic 9	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Bilateral microphthalmos, Multilob...	OMIM:601186
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt...	OMIM:226990
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog...	ORPHA:85212
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab...	ORPHA:158061
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Livedoid Vasculopathy	Leukocytosis, Pancytopenia, Polycythemia, Anemia	ORPHA:542643
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Splenomegaly, Flexion contracture, Lymphadenopathy, Anemia, Lymphopenia, ...	OMIM:617591
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Foot dorsiflexor weakness, Thrombocytope...	OMIM:214500
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Ascites	ORPHA:87876
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con...	OMIM:619036
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he...	OMIM:304790
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Cryptorchidism, Flexion contracture, Limb hypertonia	ORPHA:90322
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased variability in muscle fiber di...	OMIM:611881
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia	OMIM:619750
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Roifman Syndrome	Hepatomegaly, Hip contracture, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Trisomy 13	Aplasia/Hypoplasia of the iris, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:3378
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Anencephaly 2	Anophthalmia	OMIM:619452
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Felty Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab...	ORPHA:47612
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia	OMIM:193300
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy...	ORPHA:2686
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Nephroblastoma	Aniridia, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Walker-Warburg Syndrome	Skeletal muscle atrophy, Anophthalmia, Cryptorchidism, Muscular dystrophy, Microphthalmia, Aplasi...	ORPHA:899
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Hemochromatosis, Type 2A	Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Hepatomegaly	OMIM:620210
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Proximal muscle weakness in lower limbs,...	ORPHA:905
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Cockayne Syndrome Type 1	Hepatomegaly, Anophthalmia, Foot joint contracture, Cryptorchidism, Anemia	ORPHA:90321
Roifman Syndrome	Lymphadenopathy, Hip contracture, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Rhabdomyolysis, Myopathy	ORPHA:713
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S...	ORPHA:116
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Trisomy 1Q	Cryptorchidism, Anophthalmia, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:261344
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol...	OMIM:256550
Middle Ear Neuroendocrine Tumor	Facial palsy, Chronic noninfectious lymphadenopathy	ORPHA:100084
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Ly...	OMIM:615895
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2189
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal skeletal muscle morphology, Lymphadenopathy	ORPHA:142
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia	OMIM:610125
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Meckel Syndrome	Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancr...	ORPHA:564
Fumarase Deficiency	Intrahepatic cholestasis, Ascites, Polycythemia	OMIM:606812
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,...	ORPHA:398124
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Hepatomegaly, Anophthalmia, Abnormality of the spleen, Microphth...	ORPHA:2538
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism, Camptodactyly of 2nd-5th fingers	OMIM:206920
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato...	ORPHA:85450
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Splenomegaly, Rhabdomyolysis, Myopathy	OMIM:300842
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha...	ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatomegaly	ORPHA:834
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph...	OMIM:603553
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopen...	OMIM:615934
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Splenomegaly, Ja...	OMIM:615512
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal pheochromocyto...	ORPHA:892
Papa Syndrome	Myositis, Lymphadenopathy	ORPHA:69126
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ...	OMIM:610377
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:77298
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Leiomyosarcoma, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Holoprosencephaly	Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Cryptorchidism, Microph...	ORPHA:2162
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Tangier Disease	Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy	OMIM:205400
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Facial palsy, Hepatomegaly	OMIM:612387
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Melkersson-Rosenthal Syndrome	Macroglossia, Facial palsy, Lymphadenopathy	ORPHA:2483
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Fac...	ORPHA:31150
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
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia	ORPHA:99812
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Abnormality of skeletal muscle fiber size, Polycystic ovaries, Skelet...	ORPHA:2348
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Anemia, Facial paralysis, Thrombocytopenia	OMIM:259700
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma...	ORPHA:97289
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber s...	ORPHA:79083
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Ascites, ...	ORPHA:77259
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Ogden Syndrome	Torticollis, Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Cryptorc...	OMIM:300855
Fibular Hemimelia	Anophthalmia, Thrombocytopenia	ORPHA:93323
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contracture, Hyp...	ORPHA:77297
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids	OMIM:619769
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Limb-girdle muscle weakness, Rhabdomyolysis,...	ORPHA:79240
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia	OMIM:170100
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Dupuytren contracture, Jaundice, Lymphadenopathy, Chronic hepa...	ORPHA:39812
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Pediatric Systemic Lupus Erythematosus	Myositis, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, T...	ORPHA:93552
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of finger, Decreased response to growth hormone stimulation tes...	OMIM:602782
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopath...	ORPHA:50918
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp...	OMIM:300755
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture	OMIM:620232
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Farber Disease	Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Ly...	ORPHA:333
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy	OMIM:260920
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Ascites, Testicula...	OMIM:235200
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Limb hypertonia, Aplasia/Hypoplasia of the optic nerve, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Anemia	OMIM:239200
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:252920
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy...	ORPHA:264580
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Recurrent tonsillitis, Peritonitis, Bone marrow hypocellula...	ORPHA:2968
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Cryptorchidism, Aniridia	ORPHA:1101
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy	ORPHA:36412
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
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
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ...	OMIM:615688
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly	OMIM:617388
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr...	OMIM:617052
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly...	OMIM:612541
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi...	OMIM:260400
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Q Fever	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Abnormality o...	ORPHA:781
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptor...	OMIM:206900
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Myositis	OMIM:142680
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Flexion contracture, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid content, Abnormality o...	ORPHA:565612
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Splenomegaly, Leukocytosi...	OMIM:259720
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Carcinoid Syndrome	Myopathy, Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Camptodactyly, Decreased testicular size,...	ORPHA:168569
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:3412
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic...	OMIM:300972
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang...	ORPHA:2137
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Myositis, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in ...	ORPHA:37042
Familial Tumoral Calcinosis	Splenomegaly, Calcification of muscles, Hepatomegaly	ORPHA:53715
14Q22Q23 Microdeletion Syndrome	Cryptorchidism, Anophthalmia, Anterior pituitary hypoplasia, Optic nerve aplasia	ORPHA:264200
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2250
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Th...	ORPHA:3260
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel...	ORPHA:2035
Glycogen Storage Disease Ii	Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m...	OMIM:232300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Buphth...	OMIM:610199
Fraser Syndrome 1	Anophthalmia, Cryptorchidism, Abnormal thymus morphology, Bilateral microphthalmos	OMIM:219000
Charge Syndrome	Hypoparathyroidism, Anophthalmia, Decreased response to growth hormone stimulation test, Facial p...	OMIM:214800
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Diamond-Blackfan Anemia	Acute myeloid leukemia, Abnormality of the thenar eminence, Pure red cell aplasia, Erythroid hypo...	ORPHA:124
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancre...	OMIM:222700
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Enlarged lacri...	ORPHA:449432
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement	OMIM:620233
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Cryptorchidism, Flexion contracture, Macroglossia, Anemia	ORPHA:847
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Joint contracture of the ...	OMIM:263700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Brucellosis	Hepatomegaly, Liver abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Orchiti...	ORPHA:1304
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia, Abnormal testis morphology, Congenital diaphragmatic hernia	ORPHA:2556
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of par...	ORPHA:79078
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti...	OMIM:615846
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Anemia, Hepatomegaly	OMIM:612301
Focal Dermal Hypoplasia	Anophthalmia, Diastasis recti, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchid...	OMIM:305600
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:187300
Hennekam Syndrome	Camptodactyly of finger, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Ascites, Lymp...	ORPHA:2136
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Normochromic anemia, Reduced hematocrit	ORPHA:91500
Charge Syndrome	Anophthalmia, Facial palsy, Cryptorchidism, Microphthalmia, Anterior hypopituitarism	ORPHA:138
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Branchiooculofacial Syndrome	Anophthalmia, Facial palsy, Supernumerary nipple, Cryptorchidism, Elbow flexion contracture, Dupl...	OMIM:113620
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Parotitis, Camptodactyly of finger, Cardiomegaly, Microcyt...	OMIM:256040
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Macroglossia, ...	OMIM:301040
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:667
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Familial Mediterranean Fever	Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis	ORPHA:342
Microphthalmia, Syndromic 2	Anophthalmia, Cryptorchidism, Flexion contracture, Microphthalmia, Contracture of the proximal in...	OMIM:300166
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:77261
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreati...	OMIM:232220
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r...	ORPHA:699
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinom...	OMIM:276700
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Facial palsy, Incre...	ORPHA:797
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Lymphadenopa...	ORPHA:289390
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Generalized muscular app...	OMIM:269700
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Blau Syndrome	Facial palsy, Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Abnormality of the liver, A...	ORPHA:90340
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, Camptodactyly of 2nd-5th fingers, True anophthalmia	ORPHA:1106
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit...	ORPHA:449563
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Proteus Syndrome	Thymus hyperplasia, Decreased muscle mass, Testicular neoplasm, Myofibrillar myopathy, Neoplasm o...	ORPHA:744
Coccidioidomycosis	Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopath...	ORPHA:228123
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Parotitis, Orchitis, Splenomegaly, ...	ORPHA:99827
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Fraser Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2052
Leptospirosis	Hepatomegaly, Jaundice, Rhabdomyolysis, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath...	OMIM:181000
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade...	ORPHA:99826
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Hepatomegaly	OMIM:612132
Microphthalmia, Syndromic 6	Microphthalmia, Cryptorchidism, Anterior hypopituitarism, Anophthalmia	OMIM:607932
Behçet Disease	Myositis, Orchitis, Splenomegaly, Lymphadenopathy, Pancreatitis	ORPHA:117
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci...	ORPHA:77293
Lymphangioleiomyomatosis	Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathyroidism, Parathyroid hy...	ORPHA:653
Kawasaki Disease	Jaundice, Leukocytosis, Cervical lymphadenopathy, Hepatitis, Cholecystitis	ORPHA:2331
Igg4-Related Kidney Disease	Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality...	ORPHA:449395
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a...	ORPHA:99889
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Malakoplakia	Orchitis, Follicular hyperplasia	ORPHA:556
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon...	ORPHA:100079
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Microphthalmia, Syndromic 1	Anophthalmia, Cryptorchidism, Camptodactyly, Microphthalmia, Joint contracture of the hand	OMIM:309800
African Trypanosomiasis	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Abnormal prolactin level	ORPHA:3385
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node	ORPHA:707
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia, Hypoplasia of facial musculature	OMIM:164210

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 Tcaf2

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 Tcaf2.

No publications found that use IMPC mice or data for Tcaf2.

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MGI Allele	Allele Type	Produced
Tcaf2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tcaf2^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tcaf2 MGI:2385258

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

Human diseases caused by Tcaf2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data