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Gene: Tppp3 MGI:1915221

Gene Summary

Name:

tubulin polymerization-promoting protein family member 3

Synonyms:

2700055K07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged spleen	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
enlarged thymus	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal thymus morphology	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal lymph node morphology	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Tppp3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
enlarged lymph nodes	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal tooth morphology	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal tooth color	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
increased memory-marker CD4-positive NK T cell number	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	3.05×10^-05
increased CD4-positive NK T cell number	Tppp3^{em1(IMPC)Ccpcz}	HET	Early adult	4.27×10^-05

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Human diseases caused by Tppp3 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 Tppp3 (0 diseases)
Human diseases predicted to be associated with Tppp3 (574 diseases)

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

The table below shows human diseases predicted to be associated to Tppp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
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
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the ovary, Abnormal lymph ...	ORPHA:543
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
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, 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
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Ora...	OMIM:602450
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, R...	OMIM:150550
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,...	OMIM:613101
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy	OMIM:611762
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Abnormal oral cavity morphology, Lymphadenopathy	ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Recurrent sinusitis, Absent circulating ...	OMIM:620282
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia	ORPHA:251393
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Anemia	ORPHA:1802
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel...	ORPHA:69087
Cyclic Neutropenia	Premature loss of permanent teeth, Lymphopenia, Sinusitis, Cyclic neutropenia, Perianal abscess, ...	ORPHA:2686
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopen...	ORPHA:277
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia	OMIM:618107
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy...	OMIM:607594
Isolated Anencephaly	Cleft lip, Thymus hyperplasia	ORPHA:563609
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl...	OMIM:615122
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Chronic si...	ORPHA:397596
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Recurrent sinusitis	OMIM:240500
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple...	ORPHA:507
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Cholelithiasis, Thrombocyt...	OMIM:263700
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Thin vermilion border, Micrognathia	OMIM:608540
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Acrootoocular Syndrome	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G...	ORPHA:2980
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc...	ORPHA:169154
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Recu...	OMIM:301078
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth, Ascites, Anemia	ORPHA:1046
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa...	OMIM:612714
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Splenomegaly, High palate, Retrognathia	OMIM:615637
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ...	ORPHA:3392
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Lymphangioma, Mandibular hyperostosis, Open mouth	OMIM:176920
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, al...	OMIM:619824
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel...	ORPHA:169090
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Open bite, Splenomegaly, Dental m...	ORPHA:61
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen...	OMIM:613179
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Microcytic anemia, Deep philtrum, Lymphadenopathy, Hepatosplenomegaly, Hig...	OMIM:619750
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia	OMIM:620210
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Roifman Syndrome	Thin upper lip vermilion, Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy, Downturned c...	OMIM:616651
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth	OMIM:253000
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology...	ORPHA:1133
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, High palat...	OMIM:269920
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi...	OMIM:226990
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Splenomegaly, Erythrodontia, Hemolytic anemia	ORPHA:95159
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth	OMIM:253010
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color	OMIM:163200
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Leukopenia, Poikilo...	ORPHA:79277
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Roifman Syndrome	Thin upper lip vermilion, Eosinophilia, Lymphadenopathy, Downturned corners of mouth, Hepatosplen...	ORPHA:353298
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Thick vermi...	OMIM:616354
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell count, Re...	ORPHA:98813
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute le...	ORPHA:99812
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Felty Syndrome	Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellula...	ORPHA:47612
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy	ORPHA:2483
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
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
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Zimmermann-Laband Syndrome	Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat...	ORPHA:3473
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia	OMIM:617591
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Hemochromatosis, Type 2A	Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg...	ORPHA:666
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Leukopenia, G...	ORPHA:520
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H...	ORPHA:158057
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Deep philtrum, Micronodular cirrhosis, Thrombocytopenia...	OMIM:606003
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lym...	ORPHA:379
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
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
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Lymphadenopathy, Hepatosplen...	OMIM:260920
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Micrognathia	OMIM:619036
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Scheie Syndrome	Hepatomegaly, Splenomegaly, Wide mouth, Thick vermilion border, Everted lower lip vermilion	ORPHA:93474
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,...	ORPHA:53715
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
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Hennekam Syndrome	Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo...	ORPHA:2136
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Hepatomegaly, Absent platelet dense granules, Carious teeth, Splenomega...	OMIM:608233
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy...	OMIM:278000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Enanthema, Hepatitis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma...	ORPHA:97289
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Carious teeth, Splenomegaly, Thrombocytopenia, Calvarial osteoscleros...	OMIM:259700
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Aplasia of the thymus, Atypical or prolonged he...	ORPHA:83471
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp...	OMIM:300755
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Hydrocele testis, High palate, Long philtrum, Lymphopenia	OMIM:605309
Poikiloderma With Neutropenia	Micrognathia, Carious teeth, Splenomegaly, Neutropenia, Leukopenia, Recurrent sinusitis, Long phi...	OMIM:604173
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp...	ORPHA:231214
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Bone marrow hypocellularity, Oral leukoplakia	OMIM:616353
Sialuria	Thin upper lip vermilion, Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipp...	OMIM:269921
Prolidase Deficiency	Hepatomegaly, Micrognathia, Splenomegaly, Thrombocytopenia, High palate, Prolonged neonatal jaund...	OMIM:170100
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Graft Versus Host Disease	Trismus, Jaundice, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Hemophagoc...	ORPHA:39812
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Pan...	OMIM:235255
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth, Hepatic steatosis, Pa...	ORPHA:2348
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Orofacial cleft, Hepatic fibrosis	OMIM:615630
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas...	ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple...	OMIM:603553
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Splenomegaly, Cleft lip, Jaundice, High palate, Long philtrum, T...	OMIM:251290
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Gingival b...	ORPHA:77259
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Recurrent aphthous stomatitis, Lymphadenopathy	ORPHA:343
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Micrognathia	ORPHA:3035
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi...	OMIM:615895
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Microretrognathia, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis...	OMIM:619418
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia, Retrognathia, Smooth philtrum	OMIM:617050
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen...	OMIM:610377
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Aphthous ulcer, Leukocytosis, Oral...	OMIM:615688
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Gingival bleeding...	OMIM:153670
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Ch...	ORPHA:398124
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Ascites, Testicula...	OMIM:235200
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea...	OMIM:602782
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:252920
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean co...	OMIM:127550
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Pediatric Systemic Lupus Erythematosus	Oral ulcer, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia,...	ORPHA:93552
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato...	ORPHA:85450
Wilson Disease	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Cirrhosis, Acute hepatitis, He...	ORPHA:905
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Prolidase Deficiency	Hepatomegaly, Micrognathia, Carious teeth, Splenomegaly, Hypoplasia of the zygomatic bone	ORPHA:742
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Gingi...	ORPHA:33226
Hurler-Scheie Syndrome	Hepatomegaly, Splenomegaly, Thick vermilion border, Micrognathia	OMIM:607015
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ...	ORPHA:1655
Kagami-Ogata Syndrome	Hepatomegaly, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Long philtrum, Retrognathia	OMIM:608149
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Hepatic fibrosis, Bone marrow hypocellularity, Micr...	OMIM:224230
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Splenomegaly, Gingival overgrowth, Sea-blue histiocytosis, Narro...	OMIM:230600
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy	ORPHA:36412
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, Sinusitis, Aplasia of the th...	OMIM:102700
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Stomatitis	OMIM:612852
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Micrognathia, Cardiomegaly, Splenomegaly, Thrombocytop...	OMIM:608013
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia...	OMIM:612541
Mucopolysaccharidosis Type 6	Macroglossia, Splenomegaly, Thick lower lip vermilion, Sinusitis	ORPHA:583
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt...	ORPHA:167
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormal pancreas morphology, Enlarged lacri...	ORPHA:449432
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly	OMIM:617388
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Gingival...	ORPHA:729
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ...	ORPHA:158048
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, H...	OMIM:620233
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Splenomegaly, Leukocytosi...	OMIM:259720
H Syndrome	Microcytic anemia, Cleft upper lip, Gingival overgrowth, Lymphadenopathy, Hepatosplenomegaly, Dec...	ORPHA:168569
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hypogeusia, Decreased testicular size, Hepatomegaly	OMIM:201100
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang...	ORPHA:2137
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Anemia, Thrombocytopenia	OMIM:230900
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Conical tooth, Splenomegaly, Aplasia of the sweat glands, Hypodontia	OMIM:612132
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent sinusitis, Neutropenia...	OMIM:607944
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepa...	OMIM:610199
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Q Fever	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn...	ORPHA:781
Alström Syndrome	Decreased testicular size, Hepatomegaly, Abnormality of dental color, Decreased response to growt...	ORPHA:64
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Abnormality of the dentition,...	ORPHA:1775
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Gingival overgrowt...	OMIM:301072
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel...	ORPHA:2035
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Aphthous ulcer, Peritonitis	OMIM:249100
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Splenomegaly, Lymphaden...	ORPHA:667
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Oral ulcer, Neutropeni...	OMIM:232220
Poems Syndrome	Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly, Increased circulating prol...	ORPHA:2905
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Thrombocytosis, Chronic myelogenous leukemia	ORPHA:71493
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons...	OMIM:611881
Systemic Lupus Erythematosus	Hemolytic anemia, Cheilitis, Oral ulcer, Lymphadenopathy, Abnormal pigmentation of the oral mucos...	ORPHA:536
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Familial Mediterranean Fever	Orchitis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Ascites, Oral leukoplakia	ORPHA:342
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic...	OMIM:300972
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Gingival overgrowth...	OMIM:135500
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in...	ORPHA:37042
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Oral ulcer, Hepatiti...	OMIM:619381
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Lip telangiectasia, Cholestasis, Lymphop...	OMIM:613471
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Primary hyperparathyroidism, Anemia, Hepatomegaly	OMIM:239200
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Orchitis, Abnormality of the ante...	ORPHA:449563
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Lymphatic Malformation 6	Micrognathia, Splenomegaly, Hydrocele testis, Intestinal lymphangiectasia, Ascites	OMIM:616843
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Hypersplenism, Splenomegaly, ...	ORPHA:731
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocyto...	ORPHA:1304
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp...	ORPHA:3260
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland...	ORPHA:79078
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Kawasaki Disease	Leukocytosis, Cervical lymphadenopathy, Jaundice, Cheilitis, Hepatitis, Cholecystitis, Glossitis	ORPHA:2331
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Hypod...	OMIM:617088
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Orchitis, Splenomegaly, Leukocytosi...	ORPHA:99827
Coccidioidomycosis	Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph...	ORPHA:228123
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Neoplasm of the thymu...	ORPHA:744
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ...	ORPHA:797
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, G...	ORPHA:93
Malakoplakia	Orchitis, Abnormality of the tongue, Follicular hyperplasia	ORPHA:556
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath...	OMIM:181000
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Cirrho...	OMIM:608594
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Biliary cirrhosis, Lymphadenopathy...	ORPHA:289390
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Igg4-Related Kidney Disease	Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality...	ORPHA:449395
Behçet Disease	Orchitis, Splenomegaly, Oral ulcer, Lymphadenopathy, Recurrent aphthous stomatitis, Pancreatitis	ORPHA:117
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc...	OMIM:615846
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia, Thick lower lip ve...	OMIM:256040
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Abnormal tongue morphology, Primary hyperpa...	ORPHA:653
Lymphangioleiomyomatosis	Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Blau Syndrome	Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morphology, Anemia	ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a...	ORPHA:99889
Riddle Syndrome	Generalized lymphadenopathy, Chronic sinusitis, Recurrent sinusitis	ORPHA:420741
Chikungunya	Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy	ORPHA:324625
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade...	ORPHA:99826
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Lacrimal gland hypoplasia, Lacrimal gland aplasia	OMIM:180920
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon...	ORPHA:100079
Plague	Chapped lip, Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Glossitis	ORPHA:707
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
African Trypanosomiasis	Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level	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 Tppp3

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 Tppp3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cell-type dependent enhancer binding of the EWS/ATF1 fusion gene in clear cell sarcomas.	Nature communications (September 2019)	Tppp3^{tm1(KOMP)Wtsi}	PMC6728361

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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
Tppp3^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Tppp3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tppp3^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tppp3 MGI:1915221

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Tppp3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data