Gene Summary

Name:
F-box and WD-40 domain protein 20
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal mammary gland morphology Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal stomach morphology Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged stomach Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth morphology Fbxw20em1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Human diseases caused by Fbxw20 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Fbxw20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Lymphadenopathy ORPHA:99976
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Alpha-Heavy Chain Disease
Alopecia, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopat... ORPHA:100025
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co... ORPHA:97290
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co... ORPHA:319487
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... OMIM:613101
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Chronic sinusitis, Abnormal intestine morphology, Lymphadeno... ORPHA:397596
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Abnormal dental enamel morphology, Portal hyperten... ORPHA:59303
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Intestinal obstruction, Lymphadenopathy, Abnormal p... ORPHA:26790
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Pfapa Syndrome
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Lymphadenopathy ORPHA:42642
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Alopeci... OMIM:602450
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... OMIM:603552
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... OMIM:300853
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o... OMIM:620367
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent infection of the gastrointestinal tract, Absence of lymph ... OMIM:608184
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair OMIM:269600
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno... OMIM:618935
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, ... OMIM:612714
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Lymphadenopathy, Macroglossia, Glo... ORPHA:2221
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin... OMIM:121300
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Recurrent aphthous stomatitis, Leukocytosis, Lymphadenopathy OMIM:611762
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Premature loss of teeth OMIM:618107
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Isolated Anencephaly
Cleft lip, Thymus hyperplasia ORPHA:563609
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Lymphadenopathy... OMIM:240500
Desmoplastic Small Round Cell Tumor
Ascites, Ileus, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morpholog... ORPHA:83469
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Furrowed tongue, Stom... ORPHA:2930
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Lymphadenopathy, Neutropenia... OMIM:150550
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Lymphadenopathy ORPHA:50251
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Premature graying of hair, Open bite, Congenital pyloric atresia, Micrognathia, Cr... ORPHA:2617
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Abnormal palate morpho... ORPHA:100026
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Oral ... OMIM:615122
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Intellectual Developmental Disorder, Autosomal Recessive 41
Retrognathia, Splenomegaly, Hepatomegaly, High palate, Mandibular prognathia OMIM:615637
Classic Mycosis Fungoides
Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:2584
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Lymphadenopathy, N... OMIM:615387
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he... OMIM:616100
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutrop... ORPHA:79477
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Leishmaniasis
Abnormal oral mucosa morphology, Leukopenia, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Micrognathia, Splenomegaly, Thin vermilion border OMIM:608540
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Recurrent sinusitis, Decreased proportion of class-switched ... OMIM:607594
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Deep philtrum, Lymphadenopathy, High palat... OMIM:619750
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, Sinusitis, B lymphocytopenia, Absent tonsils,... ORPHA:277
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Chronic Granulomatous Disease
Liver abscess, Splenomegaly, Gingivitis, Tracheoesophageal fistula, Sinusitis, Hepatomegaly, Abno... ORPHA:379
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Micrognathia, Narrow mouth, Splenomegaly, Anemia, Thin vermilion border ORPHA:1046
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Acute leukemia, Cryptorchidism, Testicular seminoma ORPHA:281090
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells, Esophageal varix ORPHA:75233
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoi... OMIM:603909
Anaplastic Thyroid Carcinoma
Goiter, Tracheoesophageal fistula, Lymphadenopathy, Nodular goiter, Dysphagia ORPHA:142
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testi... ORPHA:54251
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia, Gingival bleeding OMIM:620514
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Alpha-Mannosidosis
Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open bite, Gingival overgrow... ORPHA:61
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Infantile Sialic Acid Storage Disease
Fair hair, Ascites, Gingival overgrowth, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lym... OMIM:269920
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Medullary Thyroid Carcinoma
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Dysphagi... ORPHA:1332
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome... ORPHA:131
Thyroid Lymphoma
Dysphagia, Lymphadenopathy, Goiter ORPHA:97285
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Nail dystrophy, Pyloric stenosis OMIM:226700
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Aredyld Syndrome
Craniofacial hyperostosis, Sparse body hair, Abnormal dental enamel morphology, Narrow mouth, Spl... ORPHA:1133
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Thrombocytopenia, Paris-Trousseau Type
Micrognathia, Thrombocytopenia, Pyloric stenosis OMIM:188025
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Harderoporphyria
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal... OMIM:618892
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Au... OMIM:301078
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Roifman Syndrome
Prominent eyelashes, Downturned corners of mouth, Long philtrum, Splenomegaly, Thin upper lip ver... OMIM:616651
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Eosinophili... OMIM:304790
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect... ORPHA:436159
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Incr... OMIM:300048
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Hypertrichosis, Splenomegaly, Broad ph... OMIM:616354
Cherubism
Dental malocclusion, Multiple impacted teeth, Oligodontia, Alveolar ridge overgrowth, Jaw swellin... OMIM:118400
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Klatskin Tumor
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcification of de... ORPHA:169090
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia OMIM:613313
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Oral ulcer, L... ORPHA:3392
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Immunodeficiency 114, Folate-Responsive
Carious teeth, Lymphopenia, Aphthous ulcer, Lip fissure, Splenomegaly, Megaloblastic anemia, Thro... OMIM:620603
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Conical tooth, Hypopituitarism, Absent peripheral lymph node... ORPHA:98813
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytos... ORPHA:98850
Zimmermann-Laband Syndrome
Bifid uvula, Facial hypertrichosis, Long eyelashes, Micrognathia, Anterior open-bite malocclusion... ORPHA:3473
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Sézary Syndrome
Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrophy, Lymphadenopathy, Hepatome... ORPHA:3162
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... ORPHA:1333
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemo... ORPHA:846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Generalized hirsutism, Splenomegaly ORPHA:93476
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hepatomegaly OMIM:612526
Roifman Syndrome
Prominent eyelashes, Downturned corners of mouth, Long philtrum, Hepatosplenomegaly, Thin upper l... ORPHA:353298
American Trypanosomiasis
Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Hepatomegaly ORPHA:3386
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis OMIM:616719
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease... ORPHA:169154
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Cleft palate OMIM:620210
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Scler... OMIM:607626
Sialuria
Long philtrum, Splenomegaly, Hirsutism, Thin upper lip vermilion, Smooth philtrum, Hypoplastic ni... OMIM:269921
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Villous atrophy, Autoimmun... OMIM:614700
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st... OMIM:607765
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegaly, Polycystic ova... ORPHA:2969
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Cheilitis, Lymphadenopathy ORPHA:2483
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal lymph node morphology, Hepatosplen... ORPHA:85450
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix OMIM:616589
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Abnormality of the gastrointestinal tract, G... ORPHA:33276
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Intestinal obstruction, Peritonitis, ... ORPHA:343
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Amelogenesis imperfecta, Abnormal lymphocyte count, Ly... OMIM:612783
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Ascites ORPHA:2414
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice OMIM:235555
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate ORPHA:85212
Castleman Disease
Follicular hyperplasia, Intestinal obstruction, Abdominal mass, Abnormality of the gastrointestin... ORPHA:160
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Thick hair, Hepatomegaly OMIM:613489
Trichothiodystrophy 3, Photosensitive
Carious teeth, Meckel diverticulum, Natal tooth, Bilateral cryptorchidism, Trichorrhexis nodosa, ... OMIM:616395
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, ... ORPHA:79456
Omenn Syndrome
Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,... ORPHA:39041
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Papa Syndrome
Lymphadenopathy, Crohn's disease ORPHA:69126
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Alopecia, Carious teeth, Oral leukoplakia, Nail dystrophy, Sparse ha... OMIM:616353
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:257200
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hennekam Syndrome
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Ascites... ORPHA:2136
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec... OMIM:618394
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Everted upper lip vermilion, Pancytopenia, Splenomegaly, Increase... OMIM:619824
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Hepatosplenomegaly, V... OMIM:606367
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Micrognathia, C... OMIM:235255
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Joubert Syndrome 33
Splenomegaly OMIM:617767
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Al... ORPHA:809
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Adams-Oliver Syndrome 5
Dystrophic toenail, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypert... OMIM:616028
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... OMIM:613179
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Micrognathia, Splenomegaly ORPHA:3035
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... OMIM:613812
Lig4 Syndrome
Acute leukemia, Pancytopenia, Micrognathia, Leukocytosis, Cryptorchidism, Low anterior hairline, ... ORPHA:99812
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Sinusitis, Monocytopenia, Thr... OMIM:226990
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233710
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... ORPHA:234
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Prolidase Deficiency
Facial hirsutism, Micrognathia, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Low post... OMIM:170100
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233690
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Cholestasis, ... OMIM:615895
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom... OMIM:606003
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Sinusiti... ORPHA:47612
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Splenomegaly... ORPHA:91138
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... ORPHA:2357
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Thin upper lip vermilion, High palate, Bilateral cryptorchidism, Pyloric stenosis ORPHA:314575
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Splenomegaly, Hirsutism, Everted lower lip vermilion, Hepatomegaly, ... OMIM:252930
Chediak-Higashi Syndrome
Silver-gray hair, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenom... OMIM:214500
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... OMIM:619644
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr... ORPHA:98849
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancyt... OMIM:259710
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Oral leukoplakia, ... OMIM:224230
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of the dentition, Reduced hemoglobin A, Extramedullary hematopoiesi... ORPHA:231226
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... ORPHA:2538
Immunodeficiency 31C
Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega... OMIM:614162
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Retrognathia, Cholestasis, Pancytopenia, Splenomegaly, Cirrh... OMIM:614576
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Progressive alopecia, Narrow m... OMIM:129400
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Oculoskeletodental Syndrome
Protein-losing enteropathy, Cryptorchidism, Splenomegaly, Oligodontia, Low posterior hairline, Lo... OMIM:618440
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopath... ORPHA:540
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Hepatosplenomeg... ORPHA:1655
Hemochromatosis, Type 1
Alopecia, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Testicular atrophy, Hepat... OMIM:235200
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... ORPHA:1451
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lymphadenopat... ORPHA:1572
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl... ORPHA:79124
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Abnormality of the abdominal organs, ... ORPHA:2409
Trisomy 18P
High, narrow palate, Highly arched eyebrow, Bilateral cryptorchidism, Micrognathia, Narrow mouth,... ORPHA:1715
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell count, Gastroesophageal reflux, Carious teeth, Enlarged pla... OMIM:608233
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... ORPHA:231222
Graft Versus Host Disease
Hemophagocytosis, Hepatosplenomegaly, Recurrent gastroenteritis, Oral ulcer, Lymphadenopathy, Gas... ORPHA:39812
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormal lymph node morphology ORPHA:677
Dyskeratosis Congenita
Carious teeth, Periodontitis, White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Spa... ORPHA:1775
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Nail dystrophy, Oral mucosal blisters, Enamel hypoplasia, Esophageal ... OMIM:226730
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Fg Syndrome 3
Fine hair, Frontal upsweep of hair, Cryptorchidism, Sparse hair, Pyloric stenosis OMIM:300406
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... OMIM:301068
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Sinusitis, Anemia OMIM:617591
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... OMIM:208540
Acute Promyelocytic Leukemia
Gingival bleeding, Leukopenia, Pancytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, ... ORPHA:520
Mucopolysaccharidosis, Type Iiib
Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Synophrys OMIM:252920
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Kikuchi-Fujimoto Disease
Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of pa... ORPHA:50918
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Micrognathia, Thymus hyperplasia OMIM:619036
Macrocephaly/Autism Syndrome
Coarse hair, Long philtrum, Lymphopenia, Splenomegaly, Hepatomegaly, High palate, Hydrocele testis OMIM:605309
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Congenital Syphilis
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Prolonged neonatal ... ORPHA:499009
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Micrognathia, Narrow mouth, Cryptorchidism, Short philtrum, High palate, Cleft palat... ORPHA:96184
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Delayed eruption of teeth, Thick lower lip vermilion, Widely space... OMIM:309900
Ectodermal Dysplasia And Immunodeficiency 2
Conical tooth, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hepatomegaly, Hyp... OMIM:612132
Poikiloderma With Neutropenia
Sparse eyebrow, Carious teeth, Retrognathia, Long philtrum, Sparse lateral eyebrow, Leukopenia, M... OMIM:604173
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Scheie Syndrome
Splenomegaly, Everted lower lip vermilion, Thick vermilion border, Hepatomegaly, Wide mouth ORPHA:93474
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Splen... ORPHA:2137
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Carney Triad
Gastrointestinal hemorrhage, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Lymphadeno... ORPHA:139411
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Pediatric Systemic Lupus Erythematosus
Alopecia, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Oral ulcer, Abnorm... ORPHA:93552
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Microretrognathia, Polysplenia, Exocrine pancreatic ... OMIM:619418
Coach Syndrome 1
Hepatic fibrosis, Abnormal abdomen morphology, Intrahepatic bile duct dilatation, Portal hyperten... OMIM:216360
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph... OMIM:617718
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... ORPHA:829
Carcinoid Syndrome
Intestinal carcinoid, Small intestine carcinoid, Hepatic necrosis, Chronic noninfectious lymphade... ORPHA:100093
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Hepatomegaly, Gastrointestinal hemorrhage, Hepatic amyloidosis OMIM:142680
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, ... OMIM:306400
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... ORPHA:83471
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme... OMIM:263200
Prolidase Deficiency
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, White forelock, Splenomegaly, Low ... ORPHA:742
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Lymph... OMIM:603553
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Carious teeth, Aplastic anemia, Oral leukoplakia, Increase... OMIM:127550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Hepatitis, Ileus, Autoimmune hemolytic anemia, Recurrent gastroenteritis, Splenomegaly,... ORPHA:37042
Gaucher Disease Type 1
Splenic infarction, Gingival bleeding, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia,... ORPHA:77259
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Long philtrum, Cholestasis, Portal hypertensi... OMIM:610199
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... OMIM:267700
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Lymphadenopathy, Neutr... OMIM:260920
Familial Tumoral Calcinosis
Abnormality of the dentition, Splenomegaly, Abnormal palate morphology, Gingivitis, Hepatomegaly,... ORPHA:53715
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive... ORPHA:331235
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Waldenström Macroglobulinemia
Normocytic anemia, Gingival bleeding, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Ly... ORPHA:33226
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste... ORPHA:567983
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Recurrent sinusitis, Neutropenia, B lymphocytopenia, Anemia, Enteroviral h... OMIM:300755
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites ORPHA:36412
Isolated Biliary Atresia
Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n... ORPHA:30391
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Cirrhosis, Hepa... ORPHA:779
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Chromosome 13Q33-Q34 Deletion Syndrome
Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Micrognathia, Open mouth, Cryptorch... OMIM:619148
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Retrognathia, Ascites, Hepatosplenomegaly, Micrognathia, Open mouth,... OMIM:608013
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Dental crowd... ORPHA:93932
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retrognathia, Decreased response to growth hormone stimulation test, Cervi... OMIM:602782
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse p... OMIM:618419
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Gingival overgrowth, Narrow mouth, Splenomegaly, Protruding tongue, Hepat... OMIM:230600
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... ORPHA:512
Postaxial Acrofacial Dysostosis
Conical tooth, Cleft upper lip, Supernumerary nipple, Micrognathia, Cryptorchidism, Malar flatten... OMIM:263750
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Ascit... ORPHA:2905
Porphyria, Congenital Erythropoietic
Cholelithiasis, Alopecia, Hypertrichosis, Erythrodontia, Splenomegaly, Loss of eyelashes, Hepatom... OMIM:263700
Hermansky-Pudlak Syndrome 10
Albinism, Retrognathia, Splenomegaly, Smooth philtrum, Neutropenia, Hepatomegaly OMIM:617050
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia, Cheilitis ORPHA:293173
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte... ORPHA:100086
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230800
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... OMIM:257220
Zimmermann-Laband Syndrome 1
Highly arched eyebrow, Mandibular prognathia, Gastroesophageal reflux, Downturned corners of mout... OMIM:135500
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Hilar lymph node enlargement, Cholestasis, Leukocytosis, Thin upper lip ... OMIM:620233
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Gastroesophageal reflux, Retrognathia, Long philtrum, Ascites, Micrognathia, Ma... OMIM:613177
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Syndromic Diarrhea
Hepatic fibrosis, Trichorrhexis nodosa, Lymphopenia, Abnormality of the liver, Villous atrophy, B... ORPHA:84064
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Paralytic ileus... OMIM:620565
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Neuroendocrine Neoplasm Of Appendix
Chronic noninfectious lymphadenopathy, Mechanical ileus, Adrenocorticotropic hormone excess, Hepa... ORPHA:100079
Gaucher Disease, Type Ii
Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Trismus, Anemia, Dysphagia OMIM:230900
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Alop... OMIM:615577
Sting-Associated Vasculopathy, Infantile-Onse