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Gene: Or9g4 MGI:3030840

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal pancreas morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Or9g4em1(IMPC)Mbp HOM Late adult 0.00
enlarged testis Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
small heart Or9g4em1(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 Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the ovary, Abnormal lymph node morphology, Abnormality o... ORPHA:543
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy... OMIM:607685
Megalencephaly
Long penis, Macroorchidism, Atrial septal defect ORPHA:2477
Familial Peripheral Male-Limited Precocious Puberty
Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:608971
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Hemochromatosis, Type 2B
Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transamina... OMIM:613313
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated hepatic transaminase, Abnormal lymph node morphology, Abnormality... ORPHA:54251
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Kerion Celsi
Lymphadenopathy ORPHA:499
Partington Syndrome
Macroorchidism ORPHA:94083
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:269600
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly,... ORPHA:139507
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Splenomegaly OMIM:614480
Tyrosinemia Type 1
Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenomegaly ORPHA:882
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Lymphocytosis OMIM:606445
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism ORPHA:908
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventric... ORPHA:324410
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Kimura Disease
Follicular hyperplasia, Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology ORPHA:482
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Hemochromatosis, Type 2A
Cardiomyopathy, Hepatomegaly, Cirrhosis, Splenomegaly, Azoospermia, Dilated cardiomyopathy, Hypog... OMIM:602390
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect ORPHA:776
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Lymphadenopathy,... ORPHA:858
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites ORPHA:100025
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... OMIM:620010
Polyembryoma
Abnormality of the peritoneum, Isosexual precocious puberty, Abdominal mass, Macroorchidism ORPHA:180229
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... OMIM:619658
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Biliary cirrhosis, Asplenia, Atrial septal defect, Enlarged kidney, Chole... OMIM:208540
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h... ORPHA:79301
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:608540
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Nodular goiter ORPHA:97290
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Splenomegaly, Eosinophili... OMIM:602450
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Nodular goiter ORPHA:319487
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Mccune-Albright Syndrome
Goiter, Elevated circulating growth hormone concentration, Hepatocellular adenoma, Increased circ... ORPHA:562
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Anemia, Neoplasm of the pancreas, Hepatomegaly, Lymphadenopathy, M... ORPHA:83469
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis ORPHA:2849
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Generalized lymphadenopathy, Decreased proportion of memory B cells, Decrease... OMIM:615559
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Autoimmune thrombocytopenia, Leukemia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase OMIM:617068
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... OMIM:619868
Hurler-Scheie Syndrome
Cardiomyopathy, Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Spleno... ORPHA:93476
47,Xyy Syndrome
Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increased circulating gonadotropin level, Ma... ORPHA:8
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... OMIM:602347
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper... OMIM:300853
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Increased B cell count OMIM:618982
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Portal fibrosis, Portal ... OMIM:616278
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Elevated hepatic tran... OMIM:235200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia OMIM:602079
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Abnormal pro... ORPHA:91348
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Hypogonadism, Decreased response to growth h... ORPHA:91349
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Cirrho... OMIM:214900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct... OMIM:617394
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Splenomegaly, Hepatitis, Thrombocyt... ORPHA:848
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Isolated Splenogonadal Fusion
Testicular mass, Polysplenia, Increased circulating gonadotropin level, Abnormal penis morphology... ORPHA:457083
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Adrenocorticotropic hormone exc... OMIM:609981
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly ORPHA:172
Schnitzler Syndrome
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... OMIM:619375
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:85414
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Abnormality of the uterus, Annular pancreas, Aplasia/... ORPHA:2470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly, Cirrhosis OMIM:613490
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:610539
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:2584
Congenital Alveolar Capillary Dysplasia
Hypoplastic left heart, Asplenia, Atrial septal defect, Tetralogy of Fallot, Atrioventricular can... ORPHA:210122
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Jaundice, Female external genitalia in individual with 46,XY karyotype, Abno... ORPHA:90790
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia, Testicular atr... ORPHA:52901
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Lymphadenopathy, Histiocytosis ORPHA:157991
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Hepatomegaly, Lymphadenopathy, Pancytopeni... OMIM:615122
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Cirrhosis, Hepatic failure, Splenomegaly ORPHA:75234
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, He... ORPHA:400
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Azoospermia, ... OMIM:615234
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hemolytic anemia ORPHA:56425
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Lymphadenopathy, Ascites ORPHA:26790
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse, Macroorchidism, Hypospadias OMIM:618874
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:607616
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... ORPHA:507
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia OMIM:615010
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, Abn... OMIM:150550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Ascites, Splenomegaly, Hypospadias ORPHA:1046
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Elevated circulating aspartate aminotransfe... OMIM:614034
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Elevated circulating aspartate aminotransf... OMIM:613812
Klatskin Tumor
Jaundice, Hepatomegaly, Cholangiocarcinoma, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Macroorchidism, Ventricular septal defect OMIM:309520
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Ventricular septal defect, Clitoral hypertrophy, Anemia... OMIM:606003
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Lymphaden... OMIM:308240
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Throm... OMIM:619463
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Eosinophilia, Lymphadenopa... OMIM:616651
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Hepatomegaly, Splenomegaly, Anemia OMIM:618107
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly, In... OMIM:613027
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Jaundice, Neoplasm of the liver, Elevated hepatic transaminase, Ovarian carci... ORPHA:1333
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:163596
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Niemann-Pick Disease, Type A
Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Elevated c... OMIM:257200
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary ... ORPHA:1332
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Immunodeficiency 32A
Lymphadenopathy, Lymphadenitis OMIM:614893
Adams-Oliver Syndrome 6
Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus, Splenomegaly OMIM:616589
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Acute hepatic failure, Leukopenia, Elevated circulating aspartate aminotransf... OMIM:278000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Cardiomyopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Pancytopenia, ... OMIM:610333
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Splenomegaly, Ascites OMIM:269920
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly... ORPHA:829
Meckel Syndrome, Type 7
Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Cholestasis, Bile duct prolifer... OMIM:267010
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hypogonadotropic... ORPHA:353298
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Leukopenia, Ventricular septal defect, Hepatomegaly, Lymphopenia, Splenomegaly OMIM:620210
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased circulating prolactin concentration, Prolonged neonatal jaundice, Decreased thy... ORPHA:90674
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Neonatal Lupus Erythematosus
Hemolytic anemia, Aplastic anemia, Cholestasis, Abnormality of the liver, Anemia, Hepatomegaly, E... ORPHA:398124
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Hepatic steatosis, Female pseudohermaphroditism, ... ORPHA:91
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli... OMIM:603903
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Griscelli Syndrome
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... OMIM:601847
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node germinal center OMIM:608184
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Abnormal erythrocyte morph... ORPHA:766
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Hepatomegaly, Chylopericardium, Splenomegaly, Ascites ORPHA:2414
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Prostate cancer, Acute ly... ORPHA:158057
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Cholestasis,... ORPHA:370
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Pancreatic hypoplasia, Cervical lymphadenopathy, Pulmonic stenosis, Atrial se... OMIM:602782
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... OMIM:211600
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Pancytopenia, Splenomegaly OMIM:300635
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Elevated circulating aspartate aminotransferase concentration, Elevated... ORPHA:158061
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Giant... OMIM:607765
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... ORPHA:231222
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia... ORPHA:276
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Lymphadeni... OMIM:618935
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ... OMIM:613673
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Abnormal lymphocy... ORPHA:100026
Pancreatoblastoma
Abnormal lymph node morphology, Pancreatic calcification, Jaundice ORPHA:677
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Rhabdoid Tumor
Thrombocytopenia, Lymphadenopathy, Neoplasm of the liver, Anemia ORPHA:69077
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:619183
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy OMIM:607115
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Neutropenia, P... ORPHA:98850
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Hypogonadism, Anemia, Hepatomegaly, Abnormal lymph node morphology, Primary t... ORPHA:85450
Neuraminidase Deficiency
Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splen... OMIM:256550
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated hepatic transaminase, Hepatic failure,... OMIM:235555
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocy... ORPHA:277
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Hepatomegaly, Hypoplasia of penis, Lymphadenopathy, Pancytopenia, A... ORPHA:99812
Congenital Rubella Syndrome
Jaundice, Atrial septal defect, Ventricular septal defect, Anemia, Hepatomegaly, Thrombocytopenia... ORPHA:290
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gallbladder, Annular ... OMIM:601346
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Legionnaires Disease
Myocarditis, Jaundice, Endocarditis, Pancreatitis, Bone marrow hypocellularity, Lymphopenia, Hepa... ORPHA:549
Primary Lipodystrophy
Polycystic ovaries, Cardiomyopathy, Pancreatitis, Cirrhosis, Hepatic steatosis, Splenomegaly ORPHA:90970
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenitis, Eosi... ORPHA:911
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Sialade... ORPHA:449432
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Acute hepatic failure, Hemophagocytosis, Hepatomegaly, Elevated hepatic trans... OMIM:619644
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff... OMIM:612714
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase OMIM:306000
Carney Complex
Testicular adrenal rest tumor, Hepatocellular carcinoma, Elevated circulating growth hormone conc... ORPHA:1359
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Felty Syndrome
Anemia, Bone marrow hypocellularity, Hepatomegaly, Abnormal lymphocyte morphology, Thrombocytopen... ORPHA:47612
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Sézary Syndrome
Abnormal lymphocyte morphology, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3162
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Anemia, Cholestasis, Cardiomyopathy, Hepatic fibrosis, Lymphadenitis, Hepatomegaly,... OMIM:615895
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver ORPHA:654
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic failure, Splenomegaly OMIM:613489
Meacham Syndrome
Situs inversus totalis, Conotruncal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous gen... ORPHA:3097
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Erythrocytosis, Familial, 8
Increased hemoglobin, Increased hematocrit, Splenomegaly, Polycythemia OMIM:222800
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the liver, Hepatomegaly, Lymphadenopathy, Lymphocytos... ORPHA:79456
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatomegaly, Elevated h... OMIM:618641
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Chronic hepatic failu... ORPHA:465508
Budd-Chiari Syndrome
Peritonitis, Acute hepatic failure, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrho... ORPHA:131
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Neutropenia, B lymphocytopenia, Cor pulm... OMIM:300755
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenome... OMIM:615630
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa... OMIM:616100
Tularemia
Leukocytosis, Cervical lymphadenopathy, Anemia, Abnormal nasopharyngeal adenoid morphology, Throm... ORPHA:3392
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Joubert Syndrome 33
Splenomegaly OMIM:617767
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Cryptorchidism, Micropenis, Ventricular septal defect, Hepatomegaly, Hepatic ... ORPHA:1655
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hypersplenism, Portal... OMIM:616028
Scrub Typhus
Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Caroli Disease
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevat... ORPHA:53035
Omenn Syndrome
Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Eosinophilia, Lymphadenopathy... ORPHA:39041
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary null c... ORPHA:97289
Q Fever
Myocarditis, Hepatosplenomegaly, Endocarditis, Abnormality of the liver, Anemia, Abnormal heart v... ORPHA:781
Castleman Disease
Generalized lymphadenopathy, Jaundice, Abdominal mass, Anemia, Decreased mean corpuscular volume,... ORPHA:160
Wolman Disease
Bone-marrow foam cells, Anemia, Hepatomegaly, Hepatic failure, Splenomegaly, Ascites ORPHA:75233
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Autoimmune thrombocy... OMIM:613179
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Portal hypertensi... OMIM:607626
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Lymphadenopathy, Pericardial effusion, Splenomegal... ORPHA:36412
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Hepatomegaly, Cirrhosis, Hepatitis, Thrombocytopenia, Sclero... OMIM:308230
Gaucher Disease Type 1
Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Cirrhosis, Hypersplenism, Abnormal m... ORPHA:77259
Wilson Disease
Acute hepatic failure, Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Elevated hepatic transami... ORPHA:905
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Cholestasis, Biliary atresia, Ascites, Absent gallbladder, Annular pancrea... OMIM:615710
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Ventricular septal defect, Anemia, Hepatomegaly, Prolonged neonatal ja... OMIM:619418
Dextrocardia
Situs inversus totalis, Pancreatic hypoplasia, Dextrocardia, Abnormal heart morphology, Abnormali... ORPHA:1666
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Pancreatitis, Hepatomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy, S... ORPHA:2348
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... ORPHA:822
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Ascites OMIM:200995
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertrophic cardio... ORPHA:79083
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Abnormal lymphatic vesse... ORPHA:464329
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Thrombocytopenia, Increased he... OMIM:263300
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Portal hypert... ORPHA:567983
Cinca Syndrome
Leukocytosis, Abnormal granulocyte morphology, Anemia, Abnormality of neutrophils, Hepatomegaly, ... ORPHA:1451
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Micropenis, Pulmonary lymphangiectasia, Ventricular septal defect, Thyroid lympha... OMIM:235255
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Enlarged kidney, Pancreatitis, Hepatomegaly, Elevated hepatic transamin... OMIM:232220
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Meckel Syndrome
Situs inversus totalis, True hermaphroditism, Cryptorchidism, Ambiguous genitalia, Asplenia, Cong... ORPHA:564
Dominant Beta-Thalassemia
Hepatosplenomegaly, Hypopituitarism, Hepatocellular carcinoma, Anisocytosis, Jaundice, Chronic he... ORPHA:231226
Gaucher Disease, Type Iiic
Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos... OMIM:231005
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia OMIM:619750
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatomegaly, Elevated hepatic tra... ORPHA:540
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Jaundice, Abnormal lymphocyte count, ... ORPHA:79124
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly ORPHA:169090
Anaplastic Thyroid Carcinoma
Goiter, Lymphadenopathy, Nodular goiter ORPHA:142
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Cryptorchidism, Aplastic anemia, Anemia, Bone marrow hypocellu... OMIM:617052
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Decreased eosinophil c... ORPHA:2686
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Fetal Gaucher Disease
Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pericardial effusion ORPHA:411703
Isolated Biliary Atresia
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... ORPHA:30391
Tropical Pancreatitis
Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarcinoma, A... ORPHA:103918
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Anemia, Cholestasis, Polycystic ovarie... ORPHA:264580
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Lymphadenitis, Lymphopenia, Impaired... OMIM:618986
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Hepatomegaly, Pericardial effusion, Splenomegaly ORPHA:92
Gaucher Disease, Type I
Anemia, Hepatomegaly, Hypersplenism, Aortic valve stenosis, Thrombocytopenia, Pancytopenia, Splen... OMIM:230800
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Elevated hepatic transaminase, Thrombocytopenia, Lymphadeno... ORPHA:83313
Cryoglobulinemic Vasculitis
Abnormality of the liver, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Viral hepatitis ORPHA:91138
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic calcification, Pancreatic pseudocyst OMIM:167800
Beta-Thalassemia Major
Hepatosplenomegaly, Hypopituitarism, Hepatocellular carcinoma, Jaundice, Anisopoikilocytosis, Ext... ORPHA:231214
Macrocephaly/Autism Syndrome
Penile freckling, Hepatomegaly, Lymphopenia, Hydrocele testis, Splenomegaly OMIM:605309
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Mixed Connective Tissue Disease
Myocarditis, Leukopenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenop... ORPHA:809
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:612783
Pearson Syndrome
Hypoplastic spleen, Reticulocytosis, Abnormality of the liver, Anemia, Hypoparathyroidism, Bone m... ORPHA:699
Alveolar Echinococcosis
Cholangitis, Jaundice, Liver abscess, Abnormal spleen morphology, Anemia, Abnormality of mesenter... ORPHA:284
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Splenomegaly ORPHA:93
49,Xxxyy Syndrome
Decreased testicular size, Micropenis, Ambiguous genitalia, External genital hypoplasia, Abnormal... ORPHA:261534
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Elevated hepati... OMIM:603553
Hereditary Elliptocytosis
Jaundice, Reticulocytosis, Elliptocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Pro... ORPHA:288
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Pancre... OMIM:263200
8P11.2 Deletion Syndrome
Cryptorchidism, Hypogonadism, Atrial septal defect, Hemolytic anemia, Hypoplasia of penis, Azoosp... ORPHA:251066
Proteus Syndrome
Neoplasm of the thymus, Thymus hyperplasia, Ovarian neoplasm, Macroorchidism, Long penis, Enlarge... ORPHA:744
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated hepatic transaminase, Periportal fibrosis, Depletion of mitochon... OMIM:251880
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Hepatomegaly, Lymphopenia, Elevated hepatic transaminase, Thrombocytopenia, Lymphadenopat... OMIM:617591
Lymphatic Filariasis
Hypereosinophilia, Orchitis, Vaginal hydrocele, Lymphadenitis, Lymphangiectasis, Lymphadenopathy,... ORPHA:2035
X-Linked Lymphoproliferative Disease
Myocarditis, Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Decreased l... ORPHA:2442
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly OMIM:252900
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Impaired oxidative burst, Granulomatosis, Hepatomegaly, Lymphadenitis, Lymphadenop... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Impaired oxidative burst, Granulomatosis, Hepatomegaly, Lymphadenitis, Lymphadenop... OMIM:233710
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology, El... ORPHA:100080
Aceruloplasminemia
Refractory anemia, Hepatic fibrosis, Cirrhosis, Abnormal pancreas morphology, Hypochromic microcy... ORPHA:48818
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... OMIM:224120
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Shawl scrotum, Abnormal liver parenchyma morphology, Hepatomegaly, Aplasia/Hypoplasia of the panc... ORPHA:456312
Kikuchi-Fujimoto Disease
Myocarditis, Generalized lymphadenopathy, Cervical lymphadenopathy, Leukopenia, Anemia, Hepatomeg... ORPHA:50918
Mcleod Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:300842
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Hepatitis, Thrombocytopenia, Lymp... OMIM:304790
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymph... ORPHA:139402
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Biliary tract obstruction, Biliary tract neoplasm, Chronic noninfectious l... ORPHA:100086
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, ... OMIM:267700
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Impaired oxidative burst, Granulomatosis, Hepatomegaly, Lymphadenitis, Lymphadenop... OMIM:233690
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Micropenis, Anemia, Leukemia, Bone marrow hypocellularity, Reticulocytopenia, Abn... OMIM:227646
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:201100
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytope... OMIM:618048
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Leukocytosis, Reticulocytosis, Heinz ... OMIM:300908
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ambiguous genitalia, Ventricular septal defect OMIM:615503
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612387
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ... ORPHA:2137
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Mevalonic Aciduria
Hepatosplenomegaly, Leukocytosis, Anemia, Normocytic hypoplastic anemia, Elevated hepatic transam... OMIM:610377
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Impaired... OMIM:214500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Elevated circulating thyroid-... OMIM:610199
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Orchitis, Leukocytosis, Lymphadenopathy, Abnormal myocardium morphology, Pericarditi... ORPHA:32960
Immunodeficiency 47
Leukopenia, Normocytic anemia, Elevated circulating aspartate aminotransferase concentration, Cho... OMIM:300972
Common Variable Immunodeficiency
Hemolytic anemia, Abnormality of the liver, Autoimmune thrombocytopenia, Elevated hepatic transam... ORPHA:1572
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Autoimmune hemolytic anemia, Lymph... OMIM:606367
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Precocious puberty OMIM:619950
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Hepatomegaly, Chronic noninfectious lymphadeno... ORPHA:97287
Familial Mediterranean Fever
Peritonitis, Acute hepatic failure, Orchitis, Pancreatitis, Lymphadenopathy, Pericarditis, Spleno... ORPHA:342
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Lymphadenopathy, Hepatomegaly ORPHA:343
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Feingold Syndrome 1
Asplenia, Ventricular septal defect, Polysplenia, Annular pancreas, Tricuspid stenosis, Accessory... OMIM:164280
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Secundum atrial septal defect, Hypoplasia of the thymus, Cryptorchidism, Inte... OMIM:612541
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology, El... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmonary valve cusp morphology, El... ORPHA:100082
H Syndrome
Hepatosplenomegaly, Decreased testicular size, Micropenis, Hypogonadism, Enlarged kidney, Histioc... ORPHA:168569
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Chronic Granulomatous Disease
Liver abscess, Abnormality of neutrophils, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:379
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Brucellosis
Myocarditis, Orchitis, Leukocytosis, Endocarditis, Leukopenia, Abnormality of the liver, Liver ab... ORPHA:1304
Beckwith-Wiedemann Syndrome
Cryptorchidism, Polycythemia, Enlarged kidney, Gonadoblastoma, Pseudohypoparathyroidism, Hepatome... ORPHA:116
Papa Syndrome
Lymphadenopathy ORPHA:69126
Glycogen Storage Disease Xii
Jaundice, Normocytic anemia, Anemia, Elevated circulating alanine aminotransferase concentration,... OMIM:611881
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Asplenia, Atrial septal defect, Tetralogy of ... OMIM:265380
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Left ventricular hypertrophy, Anemia, Coronary art... ORPHA:31150
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Decreased proportion of class-switched memory B cells, Chronic neutr... OMIM:614700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Hepatocellular adenoma, Anemia, Polycystic ovaries, Hepatic fibrosis, H... ORPHA:79240
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Leukocytosis, Leukopenia, Anemia, Bone marrow hypocellularity, Hepatomegaly, ... OMIM:615688
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Pancytopenia, Lymphocytosis, Acute myelomonocytic leukemia, Splenome... ORPHA:86843
Syndromic Diarrhea
Hypoplasia of the thymus, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, A... ORPHA:84064
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Pulmonic stenosis, Intrahepatic cholestasis wi... ORPHA:100076
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Neutropenia, Hepatomegaly, Reticulocytopenia, Elevated h... OMIM:557000
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Lymphadenopathy, Peric... ORPHA:2905
Igg4-Related Thyroid Disease
Goiter, Abnormality of the pituitary gland, Nodular goiter, Sialadenitis, Retroperitoneal fibrosi... ORPHA:64744
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Leukocytosis, Cholestasis, Hepatomegaly, Hilar lymph node enlargement, Right atrial enlargement, ... OMIM:620233
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Elevated hepatic transaminase, Absent vas deferens, Aplasia/Hypoplasia of the pancreas,... ORPHA:93111
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Jacobsen Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Labial hypoplasia, Clitoral hypo... OMIM:147791
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Biliary tract obstruction, Neoplasm of the liver, Intrahepatic cholestasis... ORPHA:100085
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Shwachman-Diamond Syndrome 2