Gene Summary

Name:
ribosomal protein L12
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Rpl12em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Rpl12em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Rpl12em1(IMPC)Mbp HOM   Early adult 0.00
abnormal lymph node morphology Rpl12em1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Rpl12em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Rpl12em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Rpl12em1(IMPC)Mbp HET Early adult 0.00
abnormal seminal vesicle morphology Rpl12em1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Rpl12em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Rpl12em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Rpl12em1(IMPC)Mbp HET Early adult 0.00
small seminal vesicle Rpl12em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Rpl12em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Rpl12em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Rpl12em1(IMPC)Mbp HET Late adult 0.00
decreased circulating alanine transaminase level Rpl12em1(IMPC)Mbp HET Late adult 2.39×10-06
enlarged heart Rpl12em1(IMPC)Mbp HET 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

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Rpl12 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 Rpl12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Ethanolaminosis
Cardiomegaly OMIM:227150
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Splenomegaly, Hepatomegaly OMIM:615947
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Kerion Celsi
Lymphadenopathy ORPHA:499
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell carcinoma, Renal cortical ade... ORPHA:97290
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated hepatic transaminase, Abnormal testis morphology, Liver absce... ORPHA:54251
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormality of the lymph nodes ORPHA:33111
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... ORPHA:730
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular... OMIM:276700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated hepatic transaminase, Lymphadenopathy OMIM:615895
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Ab... ORPHA:464329
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Hyperam... OMIM:271500
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell carcinoma, Nodular goiter, Ab... ORPHA:319487
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic steatosis, Neutropeni... OMIM:617303
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Conjugated hyperbilirubinem... OMIM:616860
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias, Renal... ORPHA:1046
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Urinary bladder inflammation... ORPHA:449395
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Nephroblastoma, Abnormality of the... ORPHA:276280
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Jaundic... OMIM:616278
H Syndrome
Azoospermia, Enlarged kidney, Microcytic anemia, Histiocytosis, Decreased testicular size, Hypogo... ORPHA:168569
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Elevated circulatin... OMIM:617713
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Splenomegaly OMIM:608540
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Testicular neopla... ORPHA:83469
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Genital ulcers OMIM:602450
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, H... OMIM:608836
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Dilated card... OMIM:602390
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated ci... OMIM:600649
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria, Splenomegaly ORPHA:664
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Cardiome... OMIM:269920
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As... ORPHA:858
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:75234
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly... OMIM:609981
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Enlarged kidney, Sex reversal, Scrotal hypopla... OMIM:612651
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Cardiomegaly, Elevated circulating creat... OMIM:255120
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Nephroblastoma
Nephroblastoma, Hematuria, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Klatskin Tumor
Extrahepatic cholestasis, Hepatomegaly, Jaundice, Cholangiocarcinoma, Lymphadenopathy ORPHA:99978
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232220
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:300635
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Pancreatic h... OMIM:130650
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232200
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Abnormal liver lo... OMIM:608022
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, ... OMIM:235200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Hypogonadism, Splenomegaly OMIM:201100
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Candidiasis, Familial, 2
Hypereosinophilia, Lymphadenopathy OMIM:212050
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Cryoglobulinemic Vasculitis
Hematuria, Viral hepatitis, Glomerulopathy, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopat... ORPHA:91138
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Splenomegaly, Hepatomegaly OMIM:615846
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Anemia OMIM:618838
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Ascites, Lymphadenopathy ORPHA:26790
Immunodeficiency 32B
Splenomegaly OMIM:226990
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Lymphadenitis, Leukocytosis, C... OMIM:618886
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine le... OMIM:212140
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanin... ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... ORPHA:911
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepatocellular carcinoma, H... ORPHA:79259
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heavy proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Nephrot... ORPHA:505248
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase c... OMIM:300257
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Renal insufficie... ORPHA:79312
Beckwith-Wiedemann Syndrome
Cryptorchidism, Multiple renal cysts, Exocrine pancreatic insufficiency, Enlarged kidney, Pseudoh... ORPHA:116
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Nodular goit... ORPHA:1332
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic... ORPHA:251004
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Familial Pancreatic Carcinoma
Peritoneal abscess, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Elevated hepatic... ORPHA:1333
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Ascites, Cardiomegaly, Bacterial en... ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619170
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mo... ORPHA:2470
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic kidney disease, Hepatic fa... OMIM:615630
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... ORPHA:276
Sialidosis Type 2
Hepatomegaly, Ascites, Nephropathy, Splenomegaly ORPHA:87876
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Pancytopenia, Hepatomegaly, Hypoplasia of penis, Acute leukemia, Ly... ORPHA:99812
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic... ORPHA:3202
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Urethral obstruction, Abnormality of the scrotum, Hematuria, Lymp... ORPHA:2035
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Unilater... OMIM:216360
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, ... ORPHA:39041
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hardikar Syndrome
Elevated hepatic transaminase, Hydroureter, Recurrent urinary tract infections, Hepatomegaly, Jau... OMIM:612726
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, ... ORPHA:97289
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Recurrent urinary tract infections, Enteroviral... OMIM:300755
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Micropenis OMIM:613091
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Dicarboxylic aci... ORPHA:42
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Boutonneuse Fever
Elevated hepatic transaminase, Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency... ORPHA:83313
Mevalonic Aciduria
Splenomegaly ORPHA:29
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Abnormal circulating lipid ... ORPHA:829
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Renal cortical microcyst... OMIM:614866
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia, Lymphadenopathy ORPHA:353298
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly, Hepatic failure ORPHA:75233
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Decreased plasma total carnitine, Red-brown urine, Cystic renal d... ORPHA:228308
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis,... ORPHA:567983
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Abnormal renal morphology... ORPHA:1655
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibr... ORPHA:30391
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Elevated hepatic transaminase, Neutropenia, Thromboc... ORPHA:540
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Tetralogy of Fallot OMIM:601005
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Ascites, Cardiomegaly, Ventricular s... OMIM:115197
Sitosterolemia 1
Hypercholesterolemia, Chronic hemolytic anemia, Episodic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp... OMIM:238600
Castleman Disease
Ureteral obstruction, Abdominal mass, Hematuria, Generalized lymphadenopathy, Follicular hyperpla... ORPHA:160
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Cardiomyopathy, Macrocy... OMIM:619046
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Chronic... ORPHA:79124
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopathy, Thrombocytopenia, Anem... ORPHA:3392
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcin... ORPHA:2137
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia, Splenomegaly ORPHA:98375
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Legionnaires Disease
Hematuria, Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Renal insufficiency, Bon... ORPHA:549
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Scrub Typhus
Renal insufficiency, Lymphadenopathy, Splenomegaly ORPHA:83317
Hypocomplementemic Urticarial Vasculitis
Hematuria, Glomerulopathy, Hepatomegaly, Ascites, Splenomegaly, Renal insufficiency, Lymphadenopa... ORPHA:36412
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Hepatomegaly, Thyroid lymphangiectasia, Hydronephros... OMIM:235255
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:232300
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatoc... ORPHA:465508
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Overgrowth of extern... ORPHA:508
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Abnormality of the liver ORPHA:33276
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function... OMIM:251290
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutropenia, Thrombocytopenia... ORPHA:47612
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Myoglobinuri... ORPHA:264580
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... OMIM:304790
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Pancytopenia, Thrombocytopenia, Hep... ORPHA:398124
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Ascites, Nephrotic syndrome, Proteinuria ORPHA:834
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Enlarged kidney, Polysplenia, Hepatomegaly, Renal cyst, Nephroblastoma, Duplicati... OMIM:312870
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Ascites, Cardiomegaly, Pericardial constriction OMIM:253250
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy OMIM:619051
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Glomerulopathy, Pancreatitis, Splenomegaly ORPHA:2348
Oculoskeletodental Syndrome
Cryptorchidism, Mucopolysacchariduria, Hepatomegaly, Hypercalciuria, Splenomegaly, Renal agenesis OMIM:618440
Refsum Disease, Classic
Elevated levels of phytanic acid, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Absence of renal cort... OMIM:259720
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Spleno... ORPHA:90033
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Elevated hepatic transaminase, Acute hepatic failure, Lymphadenopathy, Hepatitis, ... ORPHA:139402
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Hypoalbuminemia, ... ORPHA:255249
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Hyperechogenic kidneys, Proximal tubulopathy, Unilatera... OMIM:614576
Muckle-Wells Syndrome
Renal amyloidosis, Nephropathy, Hepatomegaly, Splenomegaly, Anemia, Nephrotic syndrome ORPHA:575
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Gaucher Disease Type 1
Cirrhosis, Hematuria, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Sp... ORPHA:77259
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Splenomegaly, Anemia, Orotic acid crystalluria, Orotica... ORPHA:30
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormality of the lymph nodes ORPHA:677
Tangier Disease
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Decreased HDL cholesterol concentration OMIM:205400
Igg4-Related Submandibular Gland Disease
Prostatitis, Renal insufficiency, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland... ORPHA:449432
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly,... OMIM:617591
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233710
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly ORPHA:90970
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Thymoma
Hemolytic anemia, Abnormal lymphocyte morphology, Abnormality of the peritoneum, Neoplasm of the ... ORPHA:99867
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Thr... ORPHA:2686
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Oliguria, Anemia, Cerv... ORPHA:514
Aredyld Syndrome
Hepatomegaly, Abnormality of the ureter, Splenomegaly ORPHA:1133
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233690
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Lym... ORPHA:2442
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Hypercalciuria, Primary hyperparathyroi... OMIM:239200
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimuation test... OMIM:602782
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Hematuria, Lymphopenia, Dark urine, Abnormality of the urinary... ORPHA:93552
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Renal angiomyolipoma, Elevated urine mevalonic acid, Splenomegaly, N... OMIM:260920
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Prolonged neonat... OMIM:170100
Familial Mediterranean Fever
Peritonitis, Acute hepatic failure, Orchitis, Nephropathy, Nephrotic syndrome, Ascites, Pancreati... ORPHA:342
Mevalonic Aciduria
Fluctuating hepatomegaly, Elevated hepatic transaminase, Leukocytosis, Thrombocytopenia, Elevated... OMIM:610377
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Mixed Connective Tissue Disease
Hemolytic anemia, Nephropathy, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopath... ORPHA:809
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Sialuria
Hepatomegaly, Hypoplastic nipples, Splenomegaly OMIM:269921
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Chronic neutropenia, Multicystic kidney dysplas... ORPHA:500095
Common Variable Immunodeficiency
Hemolytic anemia, Elevated hepatic transaminase, Autoimmune thrombocytopenia, Lymphopenia, Spleno... ORPHA:1572
Anaplastic Thyroid Carcinoma
Goiter, Lymphadenopathy, Nodular goiter ORPHA:142
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:608799
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:92
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Glomerulopathy, Hepat... ORPHA:77297
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hypersplenism, Spleno... OMIM:616028
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Primary Sclerosing Cholangitis
Cirrhosis, Renal insufficiency, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute he... ORPHA:171
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Lymphadenopathy, Hepatomegaly ORPHA:343
8P11.2 Deletion Syndrome
Cryptorchidism, Hemolytic anemia, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Hypog... ORPHA:251066
Hsd10 Disease, Infantile Type
Hyperammonemia, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic ... ORPHA:391428
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Hepatic amyloidosis, Cervical lymphadenopathy OMIM:142680
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fatal liver failure in infancy, Fetal ascites, Sea-blue histiocytosis, Pr... OMIM:257220
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Chronic noninfectious lymphadenopathy, Intrahepatic... ORPHA:100085