Gene Summary

prostaglandin I2 (prostacyclin) synthase
Pgis,  Pgi2,  Cyp8a1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 lymph nodes Ptgisem1(IMPC)Mbp HOM Early adult 0.00
increased brain size Ptgisem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Ptgisem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
increased heart weight Ptgisem1(IMPC)Mbp HOM Early adult 5.41×10-13
enlarged thymus Ptgisem1(IMPC)Mbp HOM Early adult 0.00
decreased kidney weight Ptgisem1(IMPC)Mbp HOM Early adult 6.24×10-09
abnormal thymus morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
increased mean corpuscular hemoglobin concentration Ptgisem1(IMPC)Mbp HOM Early adult 2.62×10-05
abnormal spleen morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
decreased mean corpuscular volume Ptgisem1(IMPC)Mbp HOM Early adult 1.43×10-07
enlarged spleen Ptgisem1(IMPC)Mbp HOM Early adult 0.00
small kidney Ptgisem1(IMPC)Mbp HOM Early adult 0.00
polycystic kidney Ptgisem1(IMPC)Mbp HOM Early adult 0.00
increased red blood cell distribution width Ptgisem1(IMPC)Mbp HOM Early adult 2.44×10-09
abnormal brain morphology Ptgisem1(IMPC)Mbp HOM Early 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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ptgis 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.

The table below shows human diseases associated to Ptgis by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Hypertension, Essential
Elevated systolic blood pressure, Elevated mean arterial pressure, Elevated diastolic blood pressure OMIM:145500

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

Disease Similarity of
Matching phenotypes Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... OMIM:174000
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Polycystic Kidney Disease 7
Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ... OMIM:620056
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Nephritis, Pr... OMIM:161900
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund... ORPHA:439232
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidne... OMIM:617056
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Hypertension, Abnormal glomerular mesangium morpho... ORPHA:567544
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten... OMIM:613673
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Hematuria, Supraventricular arrhythmia, Elevated circulating creat... OMIM:611773
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst, Dilatation of the cerebral artery OMIM:174050
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra... ORPHA:730
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage, Vascular dilatation, Multiple renal cysts ORPHA:2924
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Nephronophthisis 2
Hyperkalemia, Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubulointerstit... OMIM:602088
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hypertension, Neph... ORPHA:329918
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia, Renal insuff... ORPHA:3222
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Distal Duplication 14Q
Abnormal aortic morphology, Abnormality of the upper urinary tract, Patent ductus arteriosus ORPHA:1705
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Stroke, Decreased serum creatinine, Proteinuria, Arrhythmia, Rena... ORPHA:54057
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Hypertension, Abnormal renal cort... OMIM:616733
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ... ORPHA:2260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica... OMIM:604273
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Fibromuscular Dysplasia, Arterial
Stroke, Aortic dissection, Intermittent claudication, Renovascular hypertension, Arterial fibromu... OMIM:135580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612926
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Large vessel vasculitis, Renal tubular epithelial necrosis, Hematuria, Eleva... ORPHA:49041
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, Splenomegaly, Atrial se... OMIM:608776
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Increased blood ... OMIM:612924
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Polycystic kidney dyspl... OMIM:145001
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,... OMIM:610205
Cardiomegaly OMIM:227150
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot,... ORPHA:1166
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Stroke, Transient ischemic attack, Microscopic hematuria, Increased bl... OMIM:274150
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Orotic Aciduria
Oroticaciduria, Hematuria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Elevated circulating C-reactive protei... ORPHA:449400
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Systolic heart murmur... OMIM:617478
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Polycystic kidney dysplasia, Recurren... OMIM:613095
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Vasc... OMIM:614859
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hypertension, Hyperlipidemia, Increased b... OMIM:235400
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial tortuosity, Abnormal cardiovascular system physiology, Dec... ORPHA:289601
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplasia ... OMIM:214110
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Acute kidney injury, Abnormality of the kidney, Elevated diastolic blood pressure, Elevated systo... ORPHA:275555
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Protein... OMIM:603278
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Pulmonary arterial hypertension, Increased blood ure... OMIM:613845
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hypertension, Cerebral berry aneurysm, Hepatic ... OMIM:173900
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia... ORPHA:84064
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Alport Syndrome
Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial fibrosis, Hypertension,... ORPHA:63
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypertension, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuri... ORPHA:251004
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Argininuria, Decreased HDL cholesterol concentration, Decrease... ORPHA:470
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Glomerular sclerosis, Hypertension, Increased blood urea nitrogen, Abnor... OMIM:223900
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Cryoglobulinemia, Familial Mixed
Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated... OMIM:123550
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly OMIM:269920
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Fibronectin Glomerulopathy
Glomerulopathy, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Micro... ORPHA:84090
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Elevate... ORPHA:231111
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Hypertension, Mild pr... OMIM:120330
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Kerion Celsi
Lymphadenopathy ORPHA:499
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Rena... OMIM:610199
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Sickle Cell Disease
Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells... OMIM:603903
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology, Periportal fibrosis OMIM:263210
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Caroli Syndrome
Abnormality of the kidney, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatit... ORPHA:480520
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl... OMIM:614376
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Lymphangiectasis, Proximal tubulopathy, Renal cyst, Hypoalbuminemia OMIM:602579
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Organic aciduria, Poikilocytosis, Sid... OMIM:301310
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib... OMIM:266900
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex... OMIM:256550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Splenom... OMIM:105200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Cardiomegaly, Hepatomega... OMIM:608836
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... ORPHA:731
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, R... ORPHA:85450
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi... OMIM:154230
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Decreased glomerular filtration rate, Arteritis, Gl... ORPHA:93126
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Proteinuria, Coombs-positive hemol... OMIM:614034
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Hypophosphatemic rickets, Reduced left v... OMIM:614473
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne... ORPHA:1988
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Abnormal aortic... ORPHA:860
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Glomerular sclerosis, Hypertension, Cardiomyopathy, Punctate vasculi... ORPHA:247691
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Cyanosis, Transient Neonatal
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia OMIM:613977
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys... ORPHA:229
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Abnormal heart morphology... ORPHA:314588
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S... OMIM:618495
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H... ORPHA:157
Relapsing Fever
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Hypotensio... ORPHA:91547
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Hepatic periportal necrosis, Acute ... ORPHA:26791
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Elevated systolic blood pressure, Decreased circulati... OMIM:300539
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Proteinuria OMIM:620010
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic fibrosis OMIM:613313
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Proteinuria, Hyp... OMIM:618913
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Nocturia, Hypomagnes... OMIM:223360
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Peroxisome Biogenesis Disorder 5A (Zellweger)
Jaundice, Hepatomegaly, Hypospadias, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis... OMIM:614866
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Hematuria, Increased mean corpuscular volume, Ventricular septal defect, Ascites, Siderob... OMIM:617021
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis, Urethral valve, Hydronep... ORPHA:261290
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension, Hyperechogenic kidneys OMIM:619111
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Arima Syndrome
Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerstitial fibros... OMIM:243910
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Orthostatic syncope, Elevated urinary dopamine level, Increased blood ur... ORPHA:230
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... OMIM:618892
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyp... ORPHA:542323
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi... ORPHA:79312
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Hypertension, Vesicoureteral reflux, Beta 2-m... ORPHA:97362
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney, Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai... ORPHA:228302
Coach Syndrome 1
Nephronophthisis, Vascular dilatation, Unilateral renal agenesis, Hypertension, Portal hypertensi... OMIM:216360
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Hyp... ORPHA:93108
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of ... ORPHA:54251
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Rhabdoid Tumor
Renal neoplasm, Hematuria, Lymphadenopathy, Anemia, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Aorto-v... ORPHA:3400
Joubert Syndrome 20
Renal cyst OMIM:614970
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal cell carci... ORPHA:319487
Castleman Disease
Jaundice, Hematuria, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyop... ORPHA:160
Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti... ORPHA:108
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem... ORPHA:231222
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N... OMIM:619644
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Recurrent urinary tract infections, ... OMIM:613179
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Renal hypoplasia, Hepatic fibrosis OMIM:614091
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Elevated circulating creatinine concentration, Hypospadias, Unilateral... OMIM:137920
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Truncus arteriosus, Renal cyst OMIM:615583
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Leukocytosis, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ... ORPHA:400
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... OMIM:113650
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Senior-Boichis Syndrome
Tubular luminal dilatation, Hypertension, Renal atrophy, Abnormal renal insterstitial morphology,... ORPHA:84081
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Stroke, Hypertension, Budd-Chiar... ORPHA:447
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Hypertension, Epistaxis, Oliguria, Elevated ci... ORPHA:340
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Transketolase Deficiency
Increased level of ribose in urine, Elevated circulating ribitol concentration, Renal cyst, Abnor... ORPHA:488618
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis, Hypoplastic aortic arch OMIM:620511
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Igg4-Related Kidney Disease
Enlarged kidney, Pericarditis, Elevated circulating creatinine concentration, Urinary bladder inf... ORPHA:449395
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Apparent Mineralocorticoid Excess
Hypokalemia, Stroke, Hypertension, Decreased circulating renin level, Abnormality of circulating ... ORPHA:320
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Displacement of the... ORPHA:1727
Diabetic Embryopathy
Transposition of the great arteries, Ureteral duplication, Renal hypoplasia/aplasia, Abnormal aor... ORPHA:1926
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerula... OMIM:104200
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Transaldolase Deficiency
Abnormality of the kidney, Abnormal circulating glutamine concentration, Increased serum bile aci... ORPHA:101028
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Secundum atrial sept... OMIM:612562
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration OMIM:620366
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hyperbilirubinemia, Renal cyst, Abnormal serum bile acid concentration, Dark urine, ... ORPHA:79303
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Multicystic kidney dyspl... OMIM:267010
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo... ORPHA:99050
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
22Q11.2 Deletion Syndrome
Tricuspid atresia, Abnormal aortic valve morphology, Hypospadias, Cholelithiasis, Hypoparathyroid... ORPHA:567
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Tuberous Sclerosis Complex
Abnormality of the kidney, Cardiac rhabdomyoma, Polycystic kidney dysplasia, Pheochromocytoma, Re... ORPHA:805
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cryptorchidism, Ventricular septal defect, Cystic renal dysplasia OMIM:613730
Hypomagnesemia 3, Renal
Hypertension, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated c... OMIM:248250
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypophosphatemic rickets, Hypertension, Renal artery stenosis, Generali... OMIM:208000
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Ascites, Portal ... ORPHA:98850
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... ORPHA:158057
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Right ao... OMIM:301111
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Hypertension, Hyperlipidemia, Precocious atherosclerosis, Peripheral ... ORPHA:391665
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A... OMIM:612783
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Congenital Heart Defects, Multiple Types, 4
Left ventricular outflow tract obstruction, Coarctation of aorta, Tetralogy of Fallot, Aortic val... OMIM:615779
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Splenomegaly, Cardiom... OMIM:235200
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Pulmonary venous hypertension, Proteinuria ORPHA:90060
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... ORPHA:411634
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite... ORPHA:36412
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Ventricu... OMIM:620210
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Purple urine, Porphyrinuria, Red-brown urine, Reticulocytosis,... ORPHA:79277
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu... OMIM:616651
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Horseshoe kidney, Renal cyst, Heart murmur ORPHA:166035
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Legionnaires Disease
Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow hypocellu... ORPHA:549
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo... ORPHA:47612
Meckel Syndrome, Type 1
Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aspleni... OMIM:249000
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Multiple renal cysts ORPHA:66637
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe... ORPHA:829
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Ogden Syndrome
Left atrial enlargement, Bicuspid aortic valve, Enlarged kidney, Jaundice, Macrovesicular hepatic... OMIM:300855
Scrub Typhus
Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Alveolar Echinococcosis
Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal bladder morphology, Abnormal spleen morpho... ORPHA:284
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Ureteral stenosis, Nephrocal... OMIM:615398
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy OMIM:602390
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Hypertension, Renal insufficiency, Proteinuria ORPHA:90321
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath... ORPHA:231214
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Ventricular septal defect, Polycystic kidney dy... OMIM:606232
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insu... OMIM:614922
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus, Renal dysplasia OMIM:617260
Kleefstra Syndrome