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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
small heart Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node 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
abnormal testis morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
enlarged testis Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Or9g4em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Or9g4em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology 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 Lateral Orientation

10 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 Dorso Ventral

30 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
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly 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
Macroorchidism, Cardiomegaly OMIM:300886
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy 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
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... ORPHA:543
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Megalencephaly
Macroorchidism, Atrial septal defect, Long penis ORPHA:2477
Familial Male-Limited Precocious Puberty
Macroorchidism, Oligospermia, Precocious puberty, Long penis ORPHA:3000
Immunodeficiency 104
Lymphadenopathy, Splenomegaly, T lymphocytopenia, Hepatomegaly OMIM:608971
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia 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, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Elevated hepatic transaminase, Hepatomegaly, S... OMIM:613313
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... ORPHA:54251
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Fragile X Syndrome
Congenital macroorchidism, Mitral valve prolapse, Macroorchidism, postpubertal OMIM:300624
Kerion Celsi
Lymphadenopathy ORPHA:499
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Partington Syndrome
Macroorchidism ORPHA:94083
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Sple... OMIM:602390
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect ORPHA:776
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... ORPHA:858
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
Polyembryoma
Macroorchidism, Abdominal mass, Abnormality of the peritoneum, Isosexual precocious puberty ORPHA:180229
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... OMIM:208540
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... OMIM:620010
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... OMIM:617514
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
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
Hypogonadism, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:608540
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... OMIM:602450
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Mccune-Albright Syndrome
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Abnormal testi... ORPHA:562
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... ORPHA:83469
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Perlman Syndrome
Abnormal pancreas morphology, Hypoplasia of penis, Hepatomegaly, Cryptorchidism ORPHA:2849
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Generalized ... OMIM:615559
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... OMIM:614470
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
47,Xyy Syndrome
Macroorchidism, Azoospermia, Increased circulating gonadotropin level, Oligospermia, Hypospadias,... ORPHA:8
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Azoospermia, Testicular atrop... OMIM:235200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Non-Functioning Pituitary Adenoma
Female hypogonadism, Macroorchidism, Decreased response to growth hormone stimulation test, Hypog... ORPHA:91349
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... OMIM:214900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Beta-Thalassemia
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy... ORPHA:848
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... OMIM:616828
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... ORPHA:457083
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Cholestasis, Hepatomegaly ORPHA:172
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... OMIM:609981
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology ORPHA:2584
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular... ORPHA:210122
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Jaundice, Adrenal hyperplasia, Male pse... ORPHA:90790
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased testicular size, Azoospermia, Male hypogo... ORPHA:52901
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... OMIM:615122
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Splenomegaly ORPHA:75234
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... ORPHA:400
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:56425
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... OMIM:615234
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... ORPHA:507
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Mitral valve prolapse, Hypospadias OMIM:618874
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly ORPHA:79477
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615010
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... OMIM:614034
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... OMIM:613812
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Hypospadias, Ascites, Splenomegaly ORPHA:1046
Klatskin Tumor
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly ORPHA:99978
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Ventricular septal defect, Atrial septal defect OMIM:309520
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Transaldolase Deficiency
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Pancytopeni... OMIM:606003
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... OMIM:601859
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, ... OMIM:308240
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly ORPHA:391
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... OMIM:619463
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Eosinophilia, Hepatomeg... OMIM:616651
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... ORPHA:1333
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
X-Linked Sideroblastic Anemia
Anemia, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism, Abnormal liver pa... ORPHA:1332
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:257200
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Adams-Oliver Syndrome 6
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly OMIM:616589
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly OMIM:261750
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ... OMIM:610333
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... ORPHA:3226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy ORPHA:79312
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia, Hypogonadotropic... ORPHA:353298
Adult-Onset Still Disease
Hepatitis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphadenopathy, Pericarditis... ORPHA:829
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Atrial septal defect, Hepatosplenomegaly, Situs inversus tot... OMIM:267010
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Sickle Cell Disease
Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Increased red cell ... OMIM:603903
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy ORPHA:3386
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... ORPHA:824
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia OMIM:608184
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... ORPHA:381
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Hepatic steatosis, Macroorchidism, post... ORPHA:91
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Decreased thyr... ORPHA:90674
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... OMIM:266200
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis ORPHA:2414
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... ORPHA:158057
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Decreased response to growth hormone stimulation... OMIM:602782
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly OMIM:300635
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:612526
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... ORPHA:158061
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal ... ORPHA:370
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Decreased liver function, Hypogonadism, Incr... ORPHA:231222
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... ORPHA:276
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Lymphadenopathy, Acute pancreat... OMIM:618935
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Pancreatoblastoma
Abnormal lymph node morphology, Jaundice, Pancreatic calcification ORPHA:677
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Rhabdoid Tumor
Lymphadenopathy, Thrombocytopenia, Anemia, Neoplasm of the liver ORPHA:69077
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:613489
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Anemia, Primary testicular failure, Abnormal testis morphology, H... ORPHA:85450
Neuraminidase Deficiency
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly... OMIM:256550
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Incre... ORPHA:98850
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absence of lymph node germinal... ORPHA:277
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Lymphadenopathy, Cryptorchidism, Leukocytosis, Hepatomegaly, A... ORPHA:99812
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Legionnaires Disease
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Lymphadenopathy, Bone... ORPHA:549
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct atresia, Hypospad... OMIM:601346
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... ORPHA:911
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Cardiomyopathy ORPHA:90970
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... ORPHA:290
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Cholangitis, Abnormality of the ... ORPHA:449432
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,... OMIM:235555
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated hepatic transaminase, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosi... OMIM:619644
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... OMIM:612714
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:306000
Felty Syndrome
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... ORPHA:47612
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Carney Complex
Leydig cell neoplasia, Increased circulating prolactin concentration, Macroorchidism, Precocious ... ORPHA:1359
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Sézary Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology ORPHA:3162
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, L... OMIM:615895
Meacham Syndrome
Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal defect, Ventricular septal d... ORPHA:3097
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver ORPHA:654
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... ORPHA:79456
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hepatic failure, Testicular atro... ORPHA:465508
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens... ORPHA:131
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Ventricular septal defect, Cholestasis, Hepatomegaly, Splenome... OMIM:615630
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... OMIM:616100
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, B lymphocytopenia, Prostatitis, Enteroviral hepatitis, Hepatocellular ... OMIM:300755
Tularemia
Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphadenopathy,... ORPHA:3392
Joubert Syndrome 33
Splenomegaly OMIM:617767
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Hepatic failure, Ventricular septal defect, Pulmonary lymphan... ORPHA:1655
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Omenn Syndrome
Anemia, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal lymphoc... ORPHA:39041
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine... ORPHA:53035
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Pituita... ORPHA:97289
Q Fever
Endocarditis, Anemia, Abnormality of the liver, Hepatitis, Pericardial effusion, Abnormal heart v... ORPHA:781
Adams-Oliver Syndrome 5
Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Right ventricular... OMIM:616028
Castleman Disease
Anemia, Restrictive cardiomyopathy, Jaundice, Generalized lymphadenopathy, Decreased mean corpusc... ORPHA:160
Wolman Disease
Anemia, Hepatic failure, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Pericardial effusion, Lymphadenopathy, Hepatomegaly, Ascites, Abnormal heart valve ... ORPHA:36412
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... OMIM:613179
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Wilson Disease
Cirrhosis, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h... ORPHA:905
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... OMIM:607626
Meckel Syndrome
Pancreatic cysts, Asplenia, Ambiguous genitalia, Urethral atresia, True hermaphroditism, Situs in... ORPHA:564
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Cholestasis, Annular ... OMIM:615710
Dextrocardia
Pancreatic hypoplasia, Abnormality of abdominal situs, Situs inversus totalis, Dextrocardia, Abno... ORPHA:1666
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Pancytopenia, Biliary tract o... ORPHA:77259
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... ORPHA:822
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... OMIM:308230
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Ascites OMIM:200995
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepatomegaly, P... ORPHA:2348
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defect, Polysplenia, Macr... OMIM:619418
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
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
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Hepa... ORPHA:464329
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Splenomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepa... ORPHA:79083
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Hepatomegal... ORPHA:1451
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia,... OMIM:235255
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreati... OMIM:232220
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepatocellular carcin... ORPHA:231226
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hemophagocytosis, Hepatomegaly,... ORPHA:540
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Microcytic anemia, Hepatosplenomegaly OMIM:619750
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Ascites, Jaundice, Elevated hepati... ORPHA:79124
Elliptocytosis 1
Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly OMIM:611804
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:169090
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Cyclic Neutropenia
Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, Cervic... ORPHA:2686
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly ORPHA:85212
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Vaginal hydrocele, Abnormality of the scrotum... ORPHA:2035
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Hypopituitarism, Acholic stools, E... ORPHA:30391
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Juvenile Idiopathic Arthritis
Pericardial effusion, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly ORPHA:92
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Boutonneuse Fever
Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Cervical lymphadenopathy, Thrombocyto... ORPHA:83313
Cryoglobulinemic Vasculitis
Abnormality of the liver, Viral hepatitis, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:91138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Abnormal erythrocyte enzyme level, Elevated hepatic transami... ORPHA:264580
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell... ORPHA:231214
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... OMIM:230800
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis OMIM:167800
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Pericarditis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatom... ORPHA:809
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia OMIM:612783
Pearson Syndrome
Anemia, Hepatic failure, Abnormality of the liver, Decreased response to growth hormone stimulati... ORPHA:699
Alveolar Echinococcosis
Pancreatic cysts, Abnormal pericardium morphology, Biliary cirrhosis, Anemia, Decreased liver fun... ORPHA:284
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Ly... OMIM:603553
Mcleod Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Elevated cir... OMIM:300842
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... ORPHA:288
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hepatomegaly, Hepatic c... OMIM:263200
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypogonadism, Mitral valve prolapse, Hypoplasia of penis, Azoospermia, Atrial s... ORPHA:251066
Macrocephaly/Autism Syndrome
Hydrocele testis, Lymphopenia, Penile freckling, Hepatomegaly, Splenomegaly OMIM:605309
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Elevated hepatic transaminase, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopen... OMIM:617591
Aspartylglucosaminuria
Macroorchidism, Splenomegaly, Hepatomegaly ORPHA:93
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
49,Xxxyy Syndrome
Ambiguous genitalia, Abnormality of the testis size, Decreased testicular size, External genital ... ORPHA:261534
Proteus Syndrome
Macroorchidism, Neoplasm of the thymus, Enlarged polycystic ovaries, Long penis, Testicular neopl... ORPHA:744
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233710
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252900
Aceruloplasminemia
Cirrhosis, Hepatic fibrosis, Hypochromic microcytic anemia, Refractory anemia, Elevated hepatic i... ORPHA:48818
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Aplasia/Hypoplasia of the pancreas, Shawl scrotum, Hepatomegaly, Exocrine pancreatic insufficienc... ORPHA:456312
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Elevated hepatic... ORPHA:100080
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Myocarditis, Ly... ORPHA:50918
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Lymphocytosis, Elevated hepatic transaminase, Lymphadenopathy, Acute hepatic failure, ... ORPHA:139402
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... ORPHA:100086
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, ... OMIM:267700
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... OMIM:233690
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy... OMIM:304790
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Cryptorchidism, Annular pan... OMIM:227646
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Decreased proportion of memory B cel... OMIM:618048
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... OMIM:300908
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly OMIM:612387
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Splenomegaly, Hepatomegaly OMIM:201100
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular... ORPHA:2137
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Chediak-Higashi Syndrome
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... OMIM:214500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Lymphadenopathy, Leukocytosis, Orchitis, Peritonitis, Splenomegaly, Abnormal myocar... ORPHA:32960
Mevalonic Aciduria
Anemia, Elevated hepatic transaminase, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymphad... OMIM:610377
Immunodeficiency 47
Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat... OMIM:300972
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Elevated hepatic transaminase, Lymphopenia, Autoimmun... ORPHA:1572
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
Bronchial Neuroendocrine Tumor
Hepatic failure, Abnormal pulmonary valve cusp morphology, Hepatomegaly, Chronic noninfectious ly... ORPHA:97287
Apolipoprotein C-Ii Deficiency
Pancreatitis, Splenomegaly, Hepatomegaly OMIM:207750
Familial Mediterranean Fever
Splenomegaly, Pericarditis, Lymphadenopathy, Orchitis, Ascites, Peritonitis, Acute hepatic failur... ORPHA:342
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Peritonitis, Hepatomegaly ORPHA:343
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Precocious puberty OMIM:619950
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Feingold Syndrome 1
Asplenia, Ventricular septal defect, Polysplenia, Accessory spleen, Tricuspid stenosis, Annular p... OMIM:164280
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Pulmonic stenosis, Secundum atrial septal defect, C... OMIM:612541
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
H Syndrome
Hypogonadism, Decreased testicular size, Enlarged kidney, Azoospermia, Hepatosplenomegaly, Lympha... ORPHA:168569
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Elevated hepatic... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Elevated hepatic... ORPHA:100082
Chronic Granulomatous Disease
Liver abscess, Abnormality of neutrophils, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:379
Brucellosis
Endocarditis, Leukopenia, Anemia, Myocarditis, Abnormality of the liver, Liver abscess, Hypersple... ORPHA:1304
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia OMIM:618398
Beckwith-Wiedemann Syndrome
Gonadoblastoma, Enlarged kidney, Polycythemia, Hepatoblastoma, Hypertrophic cardiomyopathy, Pseud... ORPHA:116
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Glycogen Storage Disease Xii
Anemia, Elevated circulating alanine aminotransferase concentration, Normocytic anemia, Jaundice,... OMIM:611881
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Patent foramen ovale, Atrioventricular canal defect, Pulmonary valve atresia, Ventricul... OMIM:265380
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... OMIM:614700
Tangier Disease
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Orange discol... ORPHA:31150
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Pancytopenia, Hepatosp... OMIM:615688
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... ORPHA:86843
Syndromic Diarrhea
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, Ventricular sept... ORPHA:84064
Duodenal Neuroendocrine Tumor
Extrahepatic cholestasis, Hepatic failure, Increased hematocrit, Elevated hepatic transaminase, I... ORPHA:100076
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Hepatocellular carcinoma, Elevated hepatic transaminase, Pol... ORPHA:79240
Pearson Marrow-Pancreas Syndrome
Anemia, Hepatic failure, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia... OMIM:557000
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Pericardial effusion, Polycythemia, ... ORPHA:2905
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Pancreatic fibrosis, Sialadenit... ORPHA:64744
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Elevated hepatic transaminase ORPHA:100093
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Bicornuate uter... ORPHA:93111
Jacobsen Syndrome
Ventricular septal defect, Annular pancreas, Labial hypoplasia, Atrial septal defect, Clitoral hy... OMIM:147791
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Hepatic cysts, Neoplasm of the liver, Elevated hepatic transaminase, Bilia... ORPHA:100085
Pancreatic Agenesis 2
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:615935
Shwachman-Diamond Syndrome 2
Neutropenia, Normocytic anemia, Hepatomegaly, Exocrine pancreatic insufficiency, Thrombocytopenia... OMIM:617941
Hyper-Igd Syndrome