Gene Summary

Name:
olfactory receptor family 9 subfamily G member 4
Synonyms:
MOR213-4,  Olfr1006,  GA_x6K02T2Q125-47154544-47153606

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 liver morphology Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
abnormal pancreas morphology Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
small heart Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
enlarged testis Olfr1006em1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Olfr1006em1(IMPC)Mbp HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Or9g4 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 Or9g4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Familial Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... OMIM:613313
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
Kerion Celsi
Lymphadenopathy ORPHA:499
Partington Syndrome
Macroorchidism ORPHA:94083
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... ORPHA:457083
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism ORPHA:908
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Dilated cardiomyopathy, Azo... OMIM:602390
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphadenopathy, ... ORPHA:858
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Cirrhosis, Pancreatic fi... OMIM:208540
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes ORPHA:97290
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Polyembryoma
Abdominal mass, Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum ORPHA:180229
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes ORPHA:319487
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Mccune-Albright Syndrome
Precocious puberty, Pancreatitis, Elevated circulating growth hormone concentration, Ovarian cyst... ORPHA:562
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Testicular... ORPHA:83469
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis ORPHA:2849
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
47,Xyy Syndrome
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... ORPHA:8
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Functioning Gonadotropic Adenoma
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... ORPHA:91348
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, T... ORPHA:848
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... ORPHA:91349
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly OMIM:613490
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... ORPHA:90790
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse, Hypospadias, Macroorchidism OMIM:618874
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts OMIM:211890
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Elevate... ORPHA:507
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... OMIM:614034
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice ORPHA:99978
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Anemia, Ascites ORPHA:1046
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegal... OMIM:606003
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Atrial septal defect, Macroorchidism OMIM:309520
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... OMIM:308240
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompaction cardiomyopathy... OMIM:616651
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic cholestasis, Hepatosplenom... ORPHA:1333
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Nodular goiter, Lymphadenopathy, Abnormal liver pa... ORPHA:1332
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus OMIM:616589
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Noncompaction cardiomyopathy, Ly... ORPHA:353298
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... OMIM:257200
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... ORPHA:829
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly OMIM:269920
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Aromatase Deficiency
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... ORPHA:91
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:79312
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... ORPHA:90674
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Immunodeficiency 32B
Splenomegaly OMIM:226990
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ascites ORPHA:2414
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme leve... ORPHA:370
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Hepatic failure, Hepatosplenomegaly... ORPHA:158057
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... ORPHA:398124
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Atrial septal defect, Hepatomegaly, Decreased response to growth hormone stimulati... OMIM:602782
Trisomy 20P
Hypospadias, Cryptorchidism, Macroorchidism ORPHA:261318
Macrophage Activation Syndrome
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated cir... ORPHA:158061
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... ORPHA:276
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormality of the lymph nodes ORPHA:677
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Rhabdoid Tumor
Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... OMIM:618935
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613489
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Ascites, Cardiomyopat... OMIM:256550
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... ORPHA:98850
Primary Lipodystrophy
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis, Cardiomyopathy ORPHA:90970
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... OMIM:603903
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Oligo... ORPHA:85450
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Leukocytosis, Pancytopenia, Cryptorchidism, Lymphadenopathy, A... ORPHA:99812
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Anemia, Thrombocytop... ORPHA:290
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... OMIM:251880
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Martinez-Frias Syndrome
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... OMIM:601346
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun... ORPHA:108
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Bone marrow hypoce... ORPHA:549
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Prostatitis, Sialadenitis, Eosinophilia, Abnormal salivary gland mo... ORPHA:449432
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Abnormality of the lymph nodes, Lymphadenitis, Eosinophilia, Hepatosplenomegaly, A... ORPHA:911
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... OMIM:619644
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Carney Complex
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Precociou... ORPHA:1359
Felty Syndrome
Hepatomegaly, Splenomegaly, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Neutropenia... ORPHA:47612
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Elevated hepatic transamina... OMIM:615895
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic h... ORPHA:465508
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... ORPHA:3097
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... ORPHA:79456
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Agammaglobulinemia, X-Linked
Prostatitis, Cor pulmonale, Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T... OMIM:300755
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Hepatic fibr... OMIM:615630
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... OMIM:263200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Clitoral hypertr... OMIM:614866
Q Fever
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Endocarditis, Myocarditis, Cholecystitis,... ORPHA:781
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... ORPHA:39041
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... ORPHA:905
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Hepatic f... ORPHA:1655
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Chronic noninfectious lymphadenopathy, Primary hy... ORPHA:97289
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Abnormal heart valve morphology, Ascites, Pericardial effusion, Lymph... ORPHA:36412
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Restrictive cardiomyopathy, Extramedul... ORPHA:822
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Accessory spleen, Congenital h... ORPHA:564
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepati... ORPHA:2348
Dextrocardia
Abnormality of the spleen, Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormal ... ORPHA:1666
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thrombocytopenia, Biliary tract obstruction, A... ORPHA:77259
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Enlarged kidney, Hepatic fibrosis, Polysplenia, Ascites OMIM:200995
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Castleman Disease
Decreased mean corpuscular volume, Restrictive cardiomyopathy, Follicular hyperplasia, Mediastina... ORPHA:160
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatic failure, Ventricular ... OMIM:235255
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Polycystic ovaries, Hypertrophic cardiomyopa... ORPHA:79083
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti... OMIM:308230
Kaposiform Lymphangiomatosis
Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Abn... ORPHA:464329
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Cinca Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... ORPHA:1451
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly... ORPHA:540
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Enlarged... OMIM:232220
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Eleva... ORPHA:79124
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:169090
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy OMIM:619750
Adams-Oliver Syndrome 5
Right atrial enlargement, Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Patent ... OMIM:616028
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly OMIM:205400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormal erythrocyte enzyme level, Cholestasis, Hepatocell... ORPHA:264580
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... ORPHA:30391
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Macrocytic anemia OMIM:619046
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl... ORPHA:2686
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Hepatomegaly, Pericardial effusion, Splenomegaly ORPHA:92
Lymphatic Filariasis
Hydrocele testis, Orchitis, Urethral obstruction, Abnormality of the scrotum, Lymphadenitis, Abno... ORPHA:2035
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... OMIM:618986
Anaplastic Thyroid Carcinoma
Nodular goiter, Goiter, Lymphadenopathy ORPHA:142
Beta-Thalassemia Major
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... ORPHA:231214
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pericardial effusion ORPHA:411703
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Thrombocytopenia, Elevated hepatic transaminase, Lymphadeno... ORPHA:83313
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Alveolar Echinococcosis
Decreased liver function, Abnormal pericardium morphology, Abnormal spleen morphology, Eosinophil... ORPHA:284
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification OMIM:167800
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Acanth... OMIM:300842
Pearson Syndrome
Hypoparathyroidism, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Decreased respo... ORPHA:699
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myocarditis, Hemolytic anemi... ORPHA:809
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... ORPHA:2442
8P11.2 Deletion Syndrome
Atrial septal defect, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogona... ORPHA:251066
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypers... OMIM:230800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly OMIM:252900
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Splenomegaly ORPHA:93
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
49,Xxxyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Micropenis, Ambiguous genitalia, Dec... ORPHA:261534
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Elevated hepatic transaminase, Anemia,... OMIM:617591
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233710
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Splenomegaly, Neoplasm of the thymus, Testicular neoplasm, Long p... ORPHA:744
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly, El... ORPHA:100080
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nod... ORPHA:50918
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Gallbladder Neuroendocrine Tumor
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... ORPHA:100086
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, E... OMIM:603553
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Acute hepatic failure, Eosinophilia, Myocarditis, Elevated hepatic transaminase, H... ORPHA:139402
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... OMIM:304790
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233690
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Cryptorchidism, Micropenis, Hypergonadotropic hypogonadism, Thromb... OMIM:227646
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Hepatomegaly, Decreased testicular size, Splenomegaly OMIM:201100
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope... OMIM:618048
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Dilated cardiomyopathy, Abnormal heart valve ... OMIM:230500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Ambiguous genitalia OMIM:615503
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612387
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Leukocytosis, Splenomegaly, Peritonitis, Abnormal myocardium morphology, Pericarditis, ... ORPHA:32960
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Elevated hepatic transa... ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Anemia, Lymphadenopat... OMIM:267700
Pseudo-Torch Syndrome 1
Decreased liver function, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Patent foram... OMIM:251290
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Aut... OMIM:606367
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Familial Mediterranean Fever
Pancreatitis, Orchitis, Splenomegaly, Acute hepatic failure, Peritonitis, Pericarditis, Ascites, ... ORPHA:342
Mevalonic Aciduria
Fluctuating hepatomegaly, Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, ... OMIM:610377
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Abnormal pulmonary valve cusp morphology, Hepa... ORPHA:97287
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Lymphadenopathy, Hepatomegaly ORPHA:343
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Hepatomegaly, Lymphopenia, Splenomegaly, Pulmonic stenosis, Crypto... OMIM:612541
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Chronic Granulomatous Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of neutrophils, Liver abscess ORPHA:379
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
H Syndrome
Histiocytosis, Micropenis, Hepatosplenomegaly, Enlarged kidney, Microcytic anemia, Decreased test... ORPHA:168569
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... OMIM:216360
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly, El... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly, El... ORPHA:100082
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Normocytic anemia, C... OMIM:611881
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis OMIM:142680
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... OMIM:615688
Brucellosis
Abnormality of the liver, Hepatomegaly, Orchitis, Leukocytosis, Splenomegaly, Anemia, Leukopenia,... ORPHA:1304
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Chronic noninfectious lymphadenopathy, Intermittent jaundice... ORPHA:100085
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... ORPHA:116
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplast... OMIM:265380
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Polysplenia, Asplenia OMIM:164280
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Thrombocytosis, Visceromegaly, Hypog... ORPHA:2905
Syndromic Diarrhea
Bicuspid aortic valve, Atrial septal defect, Hepatomegaly, Hepatoblastoma, Splenomegaly, Lymphope... ORPHA:84064
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Thrombocytopenia, Generalized lymph... OMIM:614700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Hepatocellular adenoma, Elevated... ORPHA:79240
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Extrahepatic cholestasis, Increased hematocrit... ORPHA:100076
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... ORPHA:64744
Aceruloplasminemia
Refractory anemia, Elevated hepatic iron concentration, Abnormal pancreas morphology, Hypochromic... ORPHA:48818
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly ORPHA:90033
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... OMIM:557000
Tangier Disease
Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Hepatosplenomegaly, Anemia, ... ORPHA:31150