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
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
polycystic kidney Ptgisem1(IMPC)Mbp HOM Early adult 0.00
small kidney Ptgisem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Ptgisem1(IMPC)Mbp HOM Early adult 0.00
increased mean corpuscular hemoglobin concentration Ptgisem1(IMPC)Mbp HOM Early adult 7.13×10-05
abnormal kidney morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
increased heart weight Ptgisem1(IMPC)Mbp HOM Early adult 7.35×10-13
abnormal lymph node morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Ptgisem1(IMPC)Mbp HOM Early adult 0.00
decreased kidney weight Ptgisem1(IMPC)Mbp HOM Early adult 6.79×10-09
abnormal thymus morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
enlarged thymus Ptgisem1(IMPC)Mbp HOM Early adult 0.00
decreased mean corpuscular volume Ptgisem1(IMPC)Mbp HOM Early adult 1.31×10-09

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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 diastolic blood pressure, Elevated mean arterial 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
Hypotension, Tubulointerstitial nephritis, Renal tubular atrophy, Hyperuricemia, Stage 5 chronic ... OMIM:174000
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Hypertension, Renal atrophy, Multipl... OMIM:620056
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Elevated circulatin... OMIM:161900
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... ORPHA:439232
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine conc... OMIM:617056
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Hypertension, Glomerulonephritis, Glomerular C3 depositi... ORPHA:567544
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomeno... OMIM:611773
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... ORPHA:730
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Genitopalatocardiac Syndrome
Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic arch, Transposition of the g... OMIM:231060
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... OMIM:608776
Nephronophthisis 2
Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Hypertens... OMIM:602088
Isolated Polycystic Liver Disease
Increased total bilirubin, Vascular dilatation, Multiple renal cysts, Gastrointestinal hemorrhage ORPHA:2924
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Enlarged kidney, Jaundice, Hepatocellular ... OMIM:619902
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Acute kidney injury, Abnormality of the kidney, Elevated systolic blood pressure, Hypertension, P... ORPHA:275555
C3 Glomerulopathy
Mesangial hypercellularity, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute... ORPHA:329918
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Hyperuricemia, Hypertension, Arrhythmia, Renal insufficiency, Cardiom... ORPHA:3222
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... OMIM:613092
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract ORPHA:1705
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis ORPHA:3033
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Periportal fibrosis, En... OMIM:263200
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Joubert Syndrome 35
Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, H... OMIM:616733
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... OMIM:612925
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Hematuria, Decreased serum creatinine, Myocardial infar... ORPHA:54057
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Large vessel vasculitis, Acute kidney injury, Dysuria, Renal ... ORPHA:49041
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Myocardial infarction, Renovascular ... OMIM:135580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... OMIM:612926
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Anisocytosis, Hepatomegaly, Renal hyp... OMIM:604273
Bardet-Biedl Syndrome 16
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency OMIM:615993
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... ORPHA:67044
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... OMIM:612924
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria OMIM:602079
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Renal cyst, Peripheral pulm... OMIM:610205
Cardiomegaly OMIM:227150
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Transient ischemic attack, Abnormal renal physiology, Myocardial infar... OMIM:274150
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... OMIM:145001
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... OMIM:619468
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal aortic morphology, Renal hypoplasia/aplasia, Abnormality of the p... ORPHA:1166
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Truncus arteriosus, Interrupted aortic arch, Renal cyst, Persistent left s... OMIM:617478
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... ORPHA:449400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypouricemia, Renal, 1
Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypopituitarism, Hypersplenism, Reduced hemoglobin A, Jaundice, Decr... ORPHA:231226
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Ventricular septal defect, Hematuria, Atrial septal d... OMIM:258900
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hypertension, Increased blood urea nitrog... OMIM:235400
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial calcification, Arterial occlusion, Decreased serum creatinine, Arterial tortuosity, Coro... ORPHA:289601
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Intrahepatic bili... OMIM:214110
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Hypertension, Hyperlipidemia, Proteinuria, Focal segmental glomer... OMIM:603278
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Recurrent urinary tra... OMIM:615559
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts, Hypertension OMIM:600666
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... OMIM:179800
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Hypertension, Mitral regurgitation, Cerebral berry an... OMIM:173900
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen... OMIM:613845
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Syndromic Diarrhea
Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymus, Ventricular septal defect, Abnormality ... ORPHA:84064
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Renal insufficiency,... ORPHA:1909
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Hypertension, Increased blood urea nit... ORPHA:251004
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Alport Syndrome
Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,... ORPHA:63
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Reversible renal failure, Acut... OMIM:607665
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver absces... ORPHA:53035
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Hepa... OMIM:607685
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, Increased blood urea... ORPHA:231111
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Abnor... ORPHA:84090
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Hypertension, Elevated circulating creatinine concentration... OMIM:123550
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... ORPHA:71275
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the ureter, Hypospadias, As... ORPHA:1046
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Kerion Celsi
Lymphadenopathy ORPHA:499
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Ort... OMIM:223900
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, A... ORPHA:848
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... OMIM:618278
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... OMIM:300835
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Acute kidney injury, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... ORPHA:470
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hemat... OMIM:603903
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Caroli Syndrome
Leukopenia, Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Polycystic kidney dyspl... ORPHA:480520
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Abnormal heart morphology, Periportal fibrosis OMIM:263210
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Proximal tubulopathy, Steatorrhea, Renal cyst, Hypoalbuminemia OMIM:602579
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu... OMIM:603860
Neuraminidase Deficiency
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... OMIM:256550
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... OMIM:614376
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... OMIM:266900
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... ORPHA:79233
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Lymphadenopat... OMIM:614034
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... OMIM:608836
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti... ORPHA:731
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
46,Xy Sex Reversal 4
Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... OMIM:154230
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... OMIM:618534
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Renal tubular atrophy, Nephrotic syndrome, Renal interstitial amylo... ORPHA:85450
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Left ventricular outflow tract obstruction, Levotransposition of the gr... ORPHA:860
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas... ORPHA:93126
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Long penis, Abnormal localization of kidne... ORPHA:1988
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Renal oncocytoma, Papillary renal cell carcinoma, Nodular goiter,... ORPHA:97290
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... OMIM:614473
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemochromatosis, Type 2B
Cirrhosis, Anemia, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:613313
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... OMIM:603909
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Ge... OMIM:231680
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Hypoph... OMIM:618913
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphad... OMIM:618495
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Hypertension, Glomerular sc... ORPHA:247691
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Lacticaciduria, Acute pancreatitis, Abnormal heart morphology, Hepat... ORPHA:26791
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:620010
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Syncope, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Orthos... ORPHA:230
Distal Tetrasomy 15Q
Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Hydrocele testis, Atrial ... ORPHA:314588
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615010
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Orthostatic Hypotension 1
Nocturia, Increased blood urea nitrogen, Orthostatic hypotension, Hypomagnesemia, Atrial fibrilla... OMIM:223360
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Polycystic kidney dysplasia, Jaundice, Atrial septal defect, Hepatospl... OMIM:614866
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys, Hypertension OMIM:619111
Arima Syndrome
Renal tubular atrophy, Anemia, Hepatic fibrosis, Cirrhosis, Stage 5 chronic kidney disease, Renal... OMIM:243910
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:157
Relapsing Fever
Hypotension, Increased total bilirubin, Acute kidney injury, Hematuria, Epistaxis, Elevated circu... ORPHA:91547
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Elevated systolic ... OMIM:300539
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... OMIM:618892
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, Hypertension, Chronic ... ORPHA:97362
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Acute kidney injury, Decreased urine out... ORPHA:542323
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Renal insufficiency, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomeg... ORPHA:79312
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased urinary porphobilinogen, Splenomegaly, Elevated urinary delta-a... OMIM:121300
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma... OMIM:615415
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... ORPHA:54251
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Hematuria, Renal neoplasm, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Coach Syndrome 1
Multiple small medullary renal cysts, Vascular dilatation, Stage 5 chronic kidney disease, Hypert... OMIM:216360
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglo... ORPHA:231222
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Chronic noninfect... ORPHA:319487
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... ORPHA:543
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Trisomy 17P
Polycystic kidney dysplasia, Hypoplasia of penis, Hypoplastic left heart, Urethral stenosis, Aort... ORPHA:261290
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Uremic Pruritus
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... ORPHA:94059
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Congestive heart failure, Aorto-v... ORPHA:3400
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... OMIM:252920
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Stage 5 chronic kidney disease, Glycosuria, Abnormality of the kidney, Decreased n... OMIM:137920
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... ORPHA:228302
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly ORPHA:2584
Leukopenia, Renal insufficiency, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Sple... ORPHA:108
Castleman Disease
Anemia, Restrictive cardiomyopathy, Renal insufficiency, Jaundice, Ureteral obstruction, Generali... ORPHA:160
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... ORPHA:824
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... OMIM:615605
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... OMIM:619644
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Renal hypoplasia, Ascites OMIM:614091
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Joubert Syndrome 20
Renal cyst OMIM:614970
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Nephrotic syndrome, Lymphopenia, Hepatosplenomegaly, Lymphadenop... OMIM:618935
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... ORPHA:400
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increased mean corpusc... OMIM:300946
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... ORPHA:911
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration OMIM:109130
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... OMIM:615122
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... OMIM:113650
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Pulmonary embolism, Renal insufficiency, Acute kidney injury, Hemoglob... ORPHA:447
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Angina pectoris, Supravalvular aortic stenosis, Abnormal left ventricular f... ORPHA:391665
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Hemorrhagic Fever-Renal Syndrome
Hypotension, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitations, Oliguri... ORPHA:340
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Diabetic Embryopathy
Abnormal aortic morphology, Renal hypoplasia/aplasia, Abnormality of the pulmonary artery, Microp... ORPHA:1926
Omenn Syndrome
Anemia, Nephrotic syndrome, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomega... ORPHA:39041
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Adams-Oliver Syndrome 6
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Portal hyperte... OMIM:616589
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Renal agenesis, Congestive ... ORPHA:2326
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormality of circulating cortisol level, Decreased circulating renin level... ORPHA:320
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... ORPHA:99050
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... ORPHA:464329
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Senior-Boichis Syndrome
Increased total bilirubin, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Abnormal... ORPHA:84081
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Cardi... OMIM:614922
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Pure re... OMIM:613179
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphobl... ORPHA:158057
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fal... OMIM:612562
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... OMIM:609981
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... OMIM:615234
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Aorta Coarctation
Patent ductus arteriosus, Pulmonary arterial hypertension, Interrupted aortic arch, Congestive he... ORPHA:1457
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease... OMIM:267010
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... OMIM:613839
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Hepatic fibrosis, Hepatic cysts, Abnormality of the liver, Abnormality ... ORPHA:1505
Transketolase Deficiency
Patent ductus arteriosus, Increased level of ribose in urine, Abnormal coronary artery course, Re... ORPHA:488618
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... OMIM:104200
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Abdominal aortic calcification, Congestive heart failure, Hypertens... OMIM:208000
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:606966
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
22Q11.2 Deletion Syndrome
Vesicoureteral reflux, Hypoplasia of the thymus, Ventricular septal defect, Truncus arteriosus, P... ORPHA:567
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Splenomegaly, Hepatomegaly ORPHA:2204
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, P... ORPHA:2237
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Tuberous Sclerosis Complex
Parathyroid adenoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney disease, A... ORPHA:805
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney, Hepatomegaly, Cryptorchidism OMIM:613730
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Hepatomegaly, M... ORPHA:83469
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly ORPHA:79477
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Ascites, Prolonged... OMIM:257200
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Testicular atrophy, Hepatomegaly, Cardiomegaly, Ascites, Spl... OMIM:235200
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis OMIM:613390
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Felty Syndrome
Anemia, Recurrent urinary tract infections, Pericarditis, Lymphadenopathy, Bone marrow hypocellul... ORPHA:47612
Attrv30M Amyloidosis
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy ORPHA:85447
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... ORPHA:98850
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:611560
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... ORPHA:79301
Transaldolase Deficiency
Telangiectasia, Abnormality of the kidney, Coarctation of aorta, Increased serum bile acid concen... ORPHA:101028
Renal Hypoplasia
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... ORPHA:93101
Congenital Erythropoietic Porphyria
Leukopenia, Porphyrinuria, Purple urine, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis... ORPHA:79277
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Renal cyst, Dark urine, ... ORPHA:79303
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Urethral stenosis, Tetralogy of Fallot, Transposition of the great arter... ORPHA:1727
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glo... OMIM:614377
Meckel Syndrome, Type 1
Asplenia, Hypoplasia of the bladder, Abnormal cardiac septum morphology, Polycystic kidney dyspla... OMIM:249000
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Eosinophilia, Hepatomeg... OMIM:616651
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Renal cell carcinoma OMIM:135150
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... OMIM:194380
Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Leukocytosis, Cervical lymph... ORPHA:3392
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... ORPHA:255249
Multiple renal cysts ORPHA:66637
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Pericarditis, Renal interstitial immunoglobulin deposits, Membranous... ORPHA:449395
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... OMIM:616278
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Abnormal vena cava morphology, Horseshoe kidney, Heart murmur ORPHA:166035
Hemochromatosis, Type 2A
Cirrhosis, Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:602390
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... ORPHA:231160
Legionnaires Disease
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditis, Lymphadeno... ORPHA:549
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... OMIM:266200
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Splenomegaly, Pericardial effusion, Hematuria, Lymphadenopathy, Hepatomegaly, Pro... ORPHA:36412
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia, Ventricular septal... OMIM:606232
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:391
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... ORPHA:231214
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Patent ductus arteriosus, Restrictive cardiomyopathy, Hydroureter, Renal cyst, Ureteral stenosis,... OMIM:615398
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Dent Disease
Renal phosphate wasting, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, ... ORPHA:1652
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... ORPHA:381
Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia ORPHA:98375
Ogden Syndrome
Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Perimembranous... OMIM:300855
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Alveolar Echinococcosis
Abnormal pericardium morphology, Pancreatic cysts, Anemia, Biliary cirrhosis, Liver abscess, Abno... ORPHA:284
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... ORPHA:290
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly OMIM:300635
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Renal insufficiency, Hypertension, Proteinuria ORPHA:90321
Scrub Typhus
Lymphadenopathy, Myocarditis, Renal insufficiency, Splenomegaly ORPHA:83317
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Pulmonary venous hypertension ORPHA:90060
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Renal cyst, Hepatic steatosis, Infection associated neutropenia, Bon... ORPHA:445038
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Renal dysplasia, Mitral stenosis, Coarctation of aorta, Renal cyst OMIM:617260
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly OMIM:619658
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Anemia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphaden... OMIM:615895
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Glomerulopathy, Abnormality of the liver, Pancytopenia, Macrocytic ane... ORPHA:2169
Kleefstra Syndrome
Vesicoureteral reflux, Hypoplasia of penis, Coar