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Gene: Ptgis MGI:1097156

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Gene Summary

Name:
prostaglandin I2 (prostacyclin) synthase
Synonyms:
Pgis,  Pgi2,  Cyp8a1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
increased mean corpuscular hemoglobin concentration Ptgisem1(IMPC)Mbp HOM Early adult 2.62×10-05
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
increased brain size Ptgisem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Ptgisem1(IMPC)Mbp HOM Early adult 0.00
increased heart weight Ptgisem1(IMPC)Mbp HOM Early adult 5.41×10-13
enlarged spleen Ptgisem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Ptgisem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney 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 1.43×10-07
abnormal thymus morphology Ptgisem1(IMPC)Mbp HOM Early adult 0.00
decreased kidney weight Ptgisem1(IMPC)Mbp HOM Early adult 6.24×10-09

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
phenotypes		 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
phenotypes		 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
Oligomeganephronia
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
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
Ethanolaminosis
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
Preeclampsia
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
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Kerion Celsi
Lymphadenopathy ORPHA:499
Alpha-Thalassemia
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
Harderoporphyria
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
Leishmaniasis
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
Babesiosis
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
Delta-Beta-Thalassemia
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
Tularemia
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
Diaphanospondylodysostosis
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
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Renal cyst, Pulmona... ORPHA:261494
Glycogen Storage Disease Iv
Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Portal hypertension, Abnormal circulati... OMIM:232500
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Coronary artery atherosclerosis, I... OMIM:618620
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Infection associated neutropenia, Cardiomyopathy, Renal cyst, Bone m... ORPHA:445038
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular... ORPHA:290
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Patent ductus arteriosus OMIM:608104
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Homocystinuria, Hyperhomocystinemia, Pulmonary arterial hypertension, Coa... OMIM:614857
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus... ORPHA:2169
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade... OMIM:615895
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S... OMIM:620632
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Abnormality of the urinary system, Ascites, Nephrotic syndrome, Peric... ORPHA:93552
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Bacterial Toxic-Shock Syndrome
Myocarditis, Capillary leak, Hypocalcemia, Recurrent urinary tract infections, Hypotension, Eleva... ORPHA:36234
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy ORPHA:83313
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Renal cyst OMIM:614862
Gaisböck Syndrome
Hypertriglyceridemia, Elevated diastolic blood pressure, Coronary artery atherosclerosis, Angina ... ORPHA:90041
Aorta Coarctation
Congestive heart failure, Hypoplastic aortic arch, Coronary artery atherosclerosis, Coarctation o... ORPHA:1457
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,... ORPHA:398124
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormality of t... ORPHA:1834
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Meckel Syndrome 14
Polycystic kidney dysplasia, Hepatic fibrosis, Single ventricle OMIM:619879
Distal Deletion 12Q
Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplasia, Patent foramen ov... ORPHA:96149
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Renal steatosis, Type... ORPHA:412
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Proximal tubulopathy, Cardiomyopathy, Renal cyst, Nephrotic syndrome, Pericarditis, ... OMIM:212065
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hepatomegaly, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros... OMIM:615630
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Abn... ORPHA:540
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Fryns Syndrome
Abnormal aortic arch morphology, Hypospadias, Vesicoureteral reflux, Abnormal aortic morphology, ... ORPHA:2059
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Pulmonic stenosis, Tetralogy of ... OMIM:618780
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l... ORPHA:124
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Renal agenesis, Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Hypospadias ORPHA:1923
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Hydroureter OMIM:616559
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Retroperito... OMIM:602782
Hereditary Orotic Aciduria
Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv... ORPHA:514
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal... ORPHA:79124
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Joubert Syndrome 14
Renal cyst, Hypertension, Intracranial hemorrhage OMIM:614424
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Renal amyloidosis, Nephropathy ORPHA:575
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomega... ORPHA:91138
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Macrocytic anemia OMIM:619046
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia... ORPHA:809
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm... OMIM:613854
Q Fever
Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Abnormal heart valve morphology, P... ORPHA:781
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Abnormal heart morphology, Ovarian cyst, Proteinuria, Hepatic cysts,... OMIM:311200
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Pelvic kidney, Truncus arteriosus, Pulmonary arter... OMIM:601186
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Polycystic kidney dysplasia, Pancreatic fibrosis, Hepatic fibrosis, Ventric... OMIM:263520
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Ciliary Dyskinesia, Primary, 40
Congenitally corrected transposition of the great arteries, Right aortic arch, Patent ductus arte... OMIM:618300
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Hepato... OMIM:606003
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Reduced haptoglobin level, Hyperechogenic kidneys, Proteinuria, Modera... OMIM:301110
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Joubert Syndrome 39
Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
Mosaic Trisomy 1
Renal cortical cysts, Pulmonary artery atresia, Renal cyst, Coarctation of aorta, Penile hypospad... ORPHA:1692
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Tubular luminal dilatation, Hyperechogenic kidneys, Renal insufficiency, Ren... OMIM:219730
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy... ORPHA:3378
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C... ORPHA:99812
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cy... ORPHA:369837
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Alagille Syndrome 1
Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Stroke, Vesicouretera... OMIM:118450
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Cholestas... OMIM:614576
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Preductal coarctation of th... OMIM:146510
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Braddock-Carey Syndrome 1
Ventricular septal defect, Thrombocytopenia, Aortic valve prolapse, Multicystic kidney dysplasia OMIM:619980
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Nephroblastoma OMIM:253250
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Patent... OMIM:220500
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Partial anomalous pulmonary venous return, ... OMIM:608978
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Varicose veins, Pyelonephritis OMIM:314300
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Aor... ORPHA:91387
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Joubert Syndrome 33
Splenomegaly OMIM:617767
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ... ORPHA:231625
Prolidase Deficiency
Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple... OMIM:170100
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Anuria, Hypertension, Unconjugated hyperbilirubinemia, Hyponatr... ORPHA:90038
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity, Abnormal he... ORPHA:811
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst OMIM:615994
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Hepatitis, Nephrotic syndrome, Eosinophilia, Renal i... ORPHA:139402
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Ascending aortic dissection, Aortic tortuosity, Thoracic aortic aneurysm OMIM:616166
Acute Promyelocytic Leukemia
Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu... ORPHA:520
2Q37 Microdeletion Syndrome
Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dysplasia ORPHA:1001
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Bilateral superior vena cava with no bridging vein, ... OMIM:618460
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Prolonged QT interval,... ORPHA:31826
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Hypertension, Renal tubular atrophy, ... OMIM:613159
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Feingold Syndrome Type 1
Abnormality of the kidney, Interrupted aortic arch, Vesicoureteral reflux, Tricuspid stenosis, Ne... ORPHA:391641
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Pulmonary arterial hypertension, Microphallus, Renal hypoplasi... OMIM:618454
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Anemia, Erythroid hypoplasia, Monocytosis, Recurrent urinary tract infections, Hypo... OMIM:612541
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly OMIM:618541
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hypercholesterolemia, Hyperuricemia, Tubuloin... ORPHA:79259
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria,... ORPHA:77297
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Hypertension, Ve... ORPHA:1851
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Increased size of nasopharyngeal adenoids, Ventricular septal defect, Persi... OMIM:619769
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Aortic regurgitation, Patent ductus art... ORPHA:3092
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary incontinence, Hypotr... OMIM:618885
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome... ORPHA:699
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Ventricular septal defect OMIM:102500
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Mody
Abnormality of the kidney, Abnormal circulating C-peptide concentration, Renal cyst, Glycosuria, ... ORPHA:552
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Methylmalonic aciduria, Homocystinuria OMIM:277410
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstructi... ORPHA:77259
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm... ORPHA:2869
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Nephroblastoma
Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy ORPHA:654
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Agammaglobulinemia, X-Linked
Anemia, Recurrent urinary tract infections, B lymphocytopenia, Hepatocellular carcinoma, Enterovi... OMIM:300755
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Trisomy 1Q
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter, Patent ductus arteriosus ORPHA:261344
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma... ORPHA:2473
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hematochezia, Hypospadias, Hypoplastic aortic arch ORPHA:261311
Mosaic Trisomy 9
Abnormal liver lobulation, Dextrocardia, Hypoplasia of penis, Abnormal heart valve morphology, As... ORPHA:99776
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Von Hippel-Lindau Disease
Myocarditis, Elevated urinary catecholamine level, Stroke, Hypertension, Cardiomyopathy, Renal ce... ORPHA:892
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h... OMIM:260400
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormal aortic morphology, Pulmonary artery hypoplasia, Arrhythmia, Ab... ORPHA:991
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorch... ORPHA:2044
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Right aortic arch, Hypertension, ... OMIM:300845
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Hypertension, Nephrotic syndrome, Coarctation of aorta, Diffuse mesangial s... OMIM:617729
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252900
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Portal hypertension, Splenomeg... ORPHA:465508
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl... ORPHA:29073
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Angina pectoris, Transient ischemic attack, Atrial arrh... ORPHA:1330
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Cryptorchidism, Microcytic anemia, Hypospadias ORPHA:98791
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly OMIM:608013
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Atrial septal defect, Micropenis OMIM:616546
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyperuricemia, Renal cell ... ORPHA:93111
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome... ORPHA:905
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hepatomegaly, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Hepati... ORPHA:42
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal... ORPHA:33226
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Pseudo-Torch Syndrome 1
Jaundice, Hepatomegaly, Patent foramen ovale, Thrombocytopenia, Splenomegaly, Renal insufficiency OMIM:251290
Distal Deletion 15Q
Abnormal aortic arch morphology, Hypospadias, Multicystic kidney dysplasia, Abnormal localization... ORPHA:1596
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept... OMIM:616897
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Coarctation of aorta, Hypophosphatemic rickets, Horseshoe kidney OMIM:163200
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Roberts Syndrome
Polycystic kidney dysplasia, Cryptorchidism, Thrombocytopenia, Long penis ORPHA:3103
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cysti... OMIM:200995
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Met... OMIM:250790
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr... OMIM:201475
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Meacham Syndrome
Transposition of the great arteries, Hypoplasia of penis, Anomalous pulmonary venous return, Aort... ORPHA:3097
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Displacement of the urethral meatus, Telangiectasia of the skin, Arte... ORPHA:1556
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Vascular ring, Patent ductus arteriosus OMIM:601927
Goodpasture Syndrome
Glomerular crescent formation, Cylindruria, Increased blood urea nitrogen, Proteinuria, Macroscop... OMIM:233450
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Decreased testicular size, Histiocyt... ORPHA:168569
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab... ORPHA:2035
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Cocaine Intoxication
Ischemic stroke, Acute kidney injury, Prolonged QT interval, Hematuria, Supraventricular arrhythm... ORPHA:90068
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis,... OMIM:191100
Mcleod Syndrome
Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Acanthocytosis OMIM:300842
Hypoplastic Left Heart Syndrome
Mitral stenosis, Hypoplastic aortic arch, Patent ductus arteriosus ORPHA:2248
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Bradycardia, Abnorm... ORPHA:79404
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Polycystic kidney dysplasia, Patent foramen ovale, Renal cyst... OMIM:210710
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Vesicoureteral reflux, Renal atrophy, Hypospadias, Patent ductus arteriosus OMIM:618659
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,... ORPHA:264580
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy OMIM:614702
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Aplasia of the bladder, Absent nipple, Abnormality of the ureter, Re... OMIM:200980
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno... ORPHA:2905
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc... ORPHA:77261
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Intrahepatic biliary ... ORPHA:1454
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Hyperparathyroidism, Neonatal Severe
Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S... OMIM:239200
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cell car... OMIM:613254
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Elevated circul... OMIM:614300
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo... OMIM:276700
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia, Dilated cardiomyopathy, Vent... ORPHA:261250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Patent ductus arteriosus, Interrupted aortic arch, Hypocalcemia, Hyperbilirubinemia,... ORPHA:163979
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Conjugated hyperbi... OMIM:208500
Papa Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Congenital Syphilis
Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi... ORPHA:499009
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collecting system, Hy... OMIM:270400
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst, Bile duct proliferation OMIM:611134
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Partial anomalous pulmonary venous return, Hydroureter, Hypospadias, Rig... OMIM:265380
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... ORPHA:50918
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Shortened QT inte... ORPHA:99880
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Aortic tortuosity, Pulmonic st... OMIM:614823
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:600740
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Renal artery aneurysm, Leukocytosis, Portal ... OMIM:615688
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Pulmonary arterial hypertension, Coarctation ... OMIM:614921
8P23.1 Microdeletion Syndrome
Transposition of the great arteries, Hypospadias, Abnormal aortic morphology, Hypertrophic cardio... ORPHA:251071
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Aortic v... ORPHA:464311
Neuroblastoma
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymphadenopathy, An... ORPHA:635
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Dark urine, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:619534
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Stroke, Hypertension, Increased LDL cholesterol concentration, Coronary art... OMIM:615812
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Hydronephrosis, Splenomegaly,... OMIM:235255
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Truncus Arteriosus
Anomalous origin of the left common carotid artery from the brachiocephalic artery, Abnormal supe... ORPHA:3384
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Ascites, Leukocytosis, Nephrotic syndrome, Pericarditis, Nephrocal... ORPHA:342
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Varicose veins, Renal malrotation, Nephroblastoma OMIM:617107
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urin... ORPHA:391428
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Shortened QT inte... ORPHA:143
Cardiac Valvular Dysplasia 1
Arteria lusoria, Left aortic arch with cervical origin of the right subclavian artery, Hydrourete... OMIM:212093
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Hy... ORPHA:1655
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Glycogen Storage Disease Ii
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly OMIM:232300
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis OMIM:605309
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Abnormal heart valve morphology, Hypertrophic cardiomyopath... OMIM:230500
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
8P11.2 Deletion Syndrome
Hypoplasia of penis, Spherocytosis, Splenomegaly, Mitral valve prolapse, Atrial septal defect, Cr... ORPHA:251066
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Right aortic arch, Pulmonary artery atresia, Total anomalous... OMIM:613751
Skraban-Deardorff Syndrome
Right aortic arch OMIM:617616
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil... ORPHA:31150
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Elevated circulating creatinine concentration, Renal lymphocyt... ORPHA:91500
Marburg Hemorrhagic Fever
Hypokalemia, Bradycardia, Capillary leak, Hyperamylasemia, Hypotension, Hypovolemia, Internal hem... ORPHA:99826
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Phaver Syndrome
Coarctation of aorta, Pulmonary artery atresia, Hypoplastic aortic arch ORPHA:2876
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism OMIM:236700
Giant Cell Arteritis
Hematuria, Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Hepatomegaly, Renal tubular acidosis, Cardiomegaly, Hepatic steatosis, Ket... OMIM:255120
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Hypospadias, Abnormal mesentery morphology, Cryptorchidism, Multi... ORPHA:2075
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia... ORPHA:1572
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Yellow Fever
Hematemesis, Acute kidney injury, Reduced left ventricular ejection fraction, Bradycardia, Capill... ORPHA:99829
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Vacterl/Vater Association
Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardia... ORPHA:887
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Aortic valve stenosis, Paten... ORPHA:2306
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis, E... ORPHA:100078
Meckel Syndrome, Type 6
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst OMIM:612284
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... OMIM:618733
Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Hypocalcemia, Hydronephrosis, Patent ductus arteriosus OMIM:300712
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Aortic v... ORPHA:464306
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut... ORPHA:293173
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid... OMIM:230000
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Hypospad... OMIM:301040
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Brucellosis
Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo... ORPHA:1304
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Splenomegaly ORPHA:93474
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Splenomegaly OMIM:612918
Autoimmune Hepatitis
Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular... ORPHA:2137
Ciliary Dyskinesia, Primary, 37
Right aortic arch OMIM:617577
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Methylmalonic acidemia,... ORPHA:17
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Abnormal heart valve morphology, Splenomegaly ORPHA:583
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Hydronephrosis, Patent ductus arteriosus, Vesicoureteral reflux ORPHA:250989
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Pulmonic stenosis, Nephroblastoma, Micropenis OMIM:257300
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Hepatomegaly, Truncus arteriosus, Renal agenesis, Crossed fused renal e... ORPHA:2538
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Partial anomalous pulmonary venous return, Atrial reentry tachycardia, Asce... OMIM:270100
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Patent ductus arteriosus OMIM:616300
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Transp... ORPHA:1686
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acidosis, Myoglobinuria, H... ORPHA:79240
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Abnormal aortic morphology, Patent ductus arteriosus, Atrioventri... ORPHA:392
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Congenital megaureter, Abnorma... ORPHA:116
Roberts-Sc Phocomelia Syndrome
Hypospadias, Long penis, Accessory spleen, Polycystic kidney dysplasia, Cryptorchidism, Biliary t... OMIM:268300
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
D-Bifunctional Protein Deficiency
Hepatomegaly, Cholestasis, Renal cyst, Bile duct proliferation, Splenomegaly, Fetal ascites, Hepa... OMIM:261515
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Truncus arteriosus, Cry... OMIM:134780
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system... ORPHA:538
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Ascites, Portal hypertens... OMIM:251880
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... OMIM:613550
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Mpdu1-Cdg
Renal cortical cysts, Elevated circulating creatine kinase concentration ORPHA:79323
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Joubert Syndrome 2
Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Scimitar Syndrome
Congestive heart failure, Left superior vena cava draining to coronary sinus, Heart block, Partia... ORPHA:185
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Cholangitis, Anemia, Hepatomegaly, C... OMIM:266920
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Abnormal aortic morphology, Coarctation of aorta, Nephroblastoma, Multicyst... ORPHA:1052
Hennekam Syndrome
Ectopic kidney, Lymphadenopathy, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmo... ORPHA:2136
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hepatomegaly ORPHA:53715
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aor... ORPHA:3426
Von Hippel-Lindau Syndrome
Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Pancreatic cysts OMIM:193300
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Farber Disease
Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome... ORPHA:333
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym... ORPHA:83471
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie... ORPHA:1333
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Fanconi Anemia, Complementation Group B
Renal agenesis, Coarctation of aorta, Micropenis, Patent ductus arteriosus OMIM:300514
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Patent foramen ovale, Hypoplastic nipples, Ascites, Renal hypo... OMIM:269860
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Renal a... OMIM:249100
Zellweger Syndrome
Jaundice, Hepatomegaly, Hypospadias, Cryptorchidism, Hydronephrosis, Ventricular septal defect, M... ORPHA:912
Fucosidosis
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... OMIM:620565
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Chédiak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor... ORPHA:167
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Hydro... ORPHA:847
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Transposition of the great arteries, Blood pressure subst... ORPHA:2299
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis OMIM:618641
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch ORPHA:457284
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Cholangitis, Patent foramen ovale, Cholestasis, Biliary cirrhosis,... OMIM:613610
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi... OMIM:620233
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C... OMIM:619991
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Coronary Arterial Fistula
Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic... ORPHA:2041
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def... OMIM:222470
Perlman Syndrome
Interrupted aortic arch, Nephroblastomatosis, Renal hamartoma, Nephrogenic rest, Nephroblastoma OMIM:267000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Mitral regurgitation OMIM:603387
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Hypoplastic nipple... OMIM:122470
Lead Poisoning
Abnormal T cell morphology, Anemia, Chronic kidney disease, Imbalanced hemoglobin synthesis, Tubu... ORPHA:330015
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Monosomy 18Q
Congestive heart failure, Aortic aneurysm, Left-to-right shunt, Aortic valve stenosis, Left aorti... ORPHA:1600
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Hydronephrosis, Telangiectasia of the skin, Patent ductus arteriosus, M... ORPHA:2092
Hardikar Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers... OMIM:301068
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly ORPHA:39812
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Total anom... OMIM:614779
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le... ORPHA:57777
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Hepatitis, Nephrotic syndrome, P... OMIM:615846
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysacchariduria, Abn... ORPHA:581
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Ascites, Lymphadenitis, Splenomegaly, Impaired oxid... OMIM:306400
Williams Syndrome
Abnormal carotid artery morphology, Abnormal circulating lipid concentration, Hypoplasia of penis... ORPHA:904
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia, Glomerulonephr... ORPHA:99867
Joubert Syndrome 21
Hyperechogenic kidneys, Splenomegaly, Renal cyst OMIM:615636
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:608885
Pseudotrisomy 13 Syndrome
Renal agenesis, Renal hypoplasia, Coarctation of aorta, Micropenis OMIM:264480
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Heterotaxy, Visceral, 12, Autosomal
Left superior vena cava draining to coronary sinus, Partial anomalous pulmonary venous return, Hy... OMIM:619702
Cardiac-Urogenital Syndrome
Enlarged kidney, Partial anomalous pulmonary venous return, Penoscrotal hypospadias, Patent ductu... OMIM:618280
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Mitral regurgitation, Aortic regurgitation, Multicystic kidney dysplasia ORPHA:261349
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Micropenis, Abs... OMIM:600460
Carney Triad
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Pheochromocytoma, Ascites ORPHA:139411
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Eisenmenger Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Atrioventricular canal defec... ORPHA:97214
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... OMIM:613426
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Right bundle branch block, Hypertrophic cardiomyop... OMIM:617506
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology, Atrial septal defect, ... ORPHA:261197
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Lysinuric Protein Intolerance
Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, T... OMIM:222700
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myocardium morph... ORPHA:32960
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Meckel Syndrome
Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asp... ORPHA:564
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... OMIM:252500
Orofaciodigital Syndrome Type 1
Vascular dilatation, Renal insufficiency, Hypertension, Pancreatic cysts, Hydronephrosis, Protein... ORPHA:2750
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal cyst, Cryptorchidism, Renal agenesis, Hydronephrosis, Ec... OMIM:229850
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of penis, Supernumerary ... ORPHA:373
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100080
Congenital Tracheal Stenosis
Abnormality of the kidney, Anomalous origin of left pulmonary artery from ascending aorta, Pulmon... ORPHA:141127
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin... ORPHA:3260
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Varicose veins, Renal malrotation, Multicystic kid... ORPHA:500095
Maternal Phenylketonuria
Abnormal renal morphology, Coarctation of aorta, Tetralogy of Fallot, Bladder exstrophy, Double o... ORPHA:2209
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc... OMIM:607944
Gapo Syndrome
Tubulointerstitial fibrosis, Retinal arteriolar tortuosity, Prominent scalp veins OMIM:230740
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v... ORPHA:100075
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Prolonged neonatal jau... OMIM:300972
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re... OMIM:263700
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Hypocalcemia, Pulmonary a... OMIM:192430
Sarcoidosis
Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop... ORPHA:797
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Aminoaci... OMIM:617913
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Heterotaxy, Visceral, 7, Autosomal
Transposition of the great arteries, Interrupted aortic arch, Right aortic arch, Pulmonary artery... OMIM:616749
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card... OMIM:261740
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Acute pancreatitis, Nephrolithiasis, Hyp... OMIM:269700
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangi... ORPHA:449432
Mosaic Trisomy 16
Hypospadias, Coarctation of aorta, Patent ductus arteriosus, Single coronary artery origin, Horse... ORPHA:1708
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Atrial septal defect, Cervical lymphadenopathy, Jaundice, Hepatomega... OMIM:619573
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Alkaptonuria
Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral valve calcific... ORPHA:56
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi... ORPHA:363705
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Transposition of the great arteries, Interrupted aortic arch, Truncus arter... OMIM:600001
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypokalemia, Renal insufficiency, Hy... ORPHA:534
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Renal artery atherosclerosis, Vacuolated lymphocytes, Cardiomyopathy,... ORPHA:565612
C Syndrome
Renal cortical cysts, Patent ductus arteriosus OMIM:211750
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia ORPHA:3301
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Clear cell renal cell ... ORPHA:90340
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst, Patent ductus arteriosus OMIM:616975
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Abnormal aortic morphology, Hydronephrosis, Tetralogy of Fallot, Multicystic... ORPHA:1507
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst, Patent ductus arteriosus OMIM:117650
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
1P36 Deletion Syndrome
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Aortic arch aneurysm, Renal cyst, Hy... ORPHA:1606
Coccidioidomycosis
Abnormality of the kidney, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormalit... ORPHA:228123
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El... ORPHA:97287
Wilson Disease
Portal fibrosis, Ascites, Splenomegaly, Hepatic steatosis, Jaundice, Hepatocellular carcinoma, Ne... OMIM:277900
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Robinow Syndrome
Multicystic kidney dysplasia, Pulmonic stenosis, Coarctation of aorta, Hydronephrosis, Webbed pen... ORPHA:97360
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Heart And Brain Malformation Syndrome
Interrupted aortic arch OMIM:616920
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Left ventricular systolic dysfunction, Hypophosphatemic rickets, Medi... ORPHA:51608
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Ectopic kidney ORPHA:268249
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:308552
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Reticulocytosis, Cardiomegaly, Hepatic fibrosis, Hepatic steatos... ORPHA:14
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100082
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi... ORPHA:100085
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal pulmonary valve morphology ORPHA:667
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Right ... OMIM:617205
Behçet Disease
Glomerulopathy, Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Abnormal... ORPHA:117
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia, Cryptorchidism ORPHA:3404
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic arch aneurysm, Aortic valve stenosis, Coarctation of a... ORPHA:402075
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Gastrointestinal hemorrhage, Unilateral renal agenesis, Hypoplastic ao... ORPHA:508488
Gaucher Disease
Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Abnormal heart valve mo... ORPHA:355
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Pr... ORPHA:51
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
De Barsy Syndrome
Persistent left superior vena cava, Prominent veins on trunk, Hypoplastic aortic arch, Patent duc... ORPHA:2962
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Neurogenic bl... ORPHA:110
Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Pyuria, Leukopenia, Proteinuria, Thrombocytopenia, Hemolytic anemia, ... ORPHA:536
Primary Sjögren Syndrome
Abnormality of the kidney, Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic activ... ORPHA:289390
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Crimean-Congo Hemorrhagic Fever
Myocarditis, Jaundice, Hematuria, Hepatomegaly, Lymphadenopathy, Pancytopenia, Parotitis, Acute p... ORPHA:99827
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Pulmonic... ORPHA:353281
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Recurrent urinary tract infections, Pulmonary arterial hype... ORPHA:3310
Cardiospondylocarpofacial Syndrome
Vesicoureteral reflux, Mitral regurgitation, Horseshoe kidney, Hypoplastic aortic arch OMIM:157800
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormal localization of kidney, Elev... ORPHA:818
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Leukocytosis, D... ORPHA:2331
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... OMIM:181000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Transposition of the great arteries, Ureteral duplication, Interrupted aortic arch, Pulmonic sten... ORPHA:2255
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Lymphadenopathy, Parotitis, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcyti... OMIM:256040
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr... OMIM:620371
45,X/46,Xy Mixed Gonadal Dysgenesis
Epispadias, Abnormality of the kidney, Prolonged QT interval, Hypospadias, Penoscrotal hypospadia... ORPHA:1772
Malakoplakia
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis, Follicular hyperpl... ORPHA:556
Digeorge Syndrome
Parathyroid hypoplasia, Anemia, Unilateral renal agenesis, Cholelithiasis, Truncus arteriosus, Hy... OMIM:188400
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Aortic valve stenosis, Mitral stenosis, Splenomegaly, Multiple renal c... ORPHA:955
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Fanconi Anemia
Abnormal carotid artery morphology, Renal hypoplasia/aplasia, Hydroureter, Abnormal preputium mor... ORPHA:84
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Autosomal Dominant Cutis Laxa
Congestive heart failure, Unilateral renal agenesis, Aortic regurgitation, Aortic aneurysm, Coarc... ORPHA:90348
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept... OMIM:312870
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Acute pancreatitis, Nephrolithiasis, Cardiomyopathy, Splenomegaly, Polyc... OMIM:608594
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Patent ductus arteriosus OMIM:300373
Viss Syndrome
Pulmonary artery aneurysm, Epidural hemorrhage, Iliac artery aneurysm, Abnormal branching pattern... OMIM:619472
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Splenomegaly OMIM:612301
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi... ORPHA:509
Bohring-Opitz Syndrome
Annular pancreas, Cardiomegaly, Cholelithiasis, Nephroblastoma, Urinary retention, Abnormal cardi... ORPHA:97297
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephr... ORPHA:798
Townes-Brocks Syndrome
Abnormality of the kidney, Hypospadias, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Hepatoerythropoietic Porphyria
Red urine, Purple urine, Red-brown urine, Splenomegaly, Erythroid hyperplasia, Hemolytic anemia ORPHA:95159
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Pulmonary arterial hypertension, Aortic valv... ORPHA:2396
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Epistaxis, Hemato... OMIM:175050
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Right aortic arch, Pulmonary arterial hypertension, Do... ORPHA:95430
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope... OMIM:619381
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the... ORPHA:79078
Holoprosencephaly
Hypoplasia of penis, Abnormal aortic morphology, Hyponatremia, Tetralogy of Fallot, Proteinuria, ... ORPHA:2162
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ... ORPHA:744
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Phe... ORPHA:653
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card... OMIM:620066
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Transposition of the great arteries, Unilateral renal agenesis, Hypoplastic aort... OMIM:619503
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency ORPHA:397715
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Dermatan sulfate excretion in urine, Ar... ORPHA:217085
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Peters Plus Syndrome
Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Abnormal pulmonary vein morphology, ... ORPHA:709
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Transposition of the great arteries, Ca... ORPHA:99125
Charge Syndrome
Hypocalcemia, Right aortic arch, Pulmonary artery atresia, Pulmonic stenosis, Renal hypoplasia, R... OMIM:214800
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Charge Syndrome
Interrupted aortic arch, Vesicoureteral reflux, Aortic arch aneurysm, Hydronephrosis, Tetralogy o... ORPHA:138
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Dermatan sulfate excretion in urine, Ar... ORPHA:217093
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Abnormal subclavian artery morphology, Hypospadias, Recurrent urinary ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Abnormal subclavian artery morphology, Hypospadias, Recurrent urinary ... ORPHA:353277
Microphthalmia, Syndromic 2
Hypospadias, Hypoplastic aortic arch, Pulmonic stenosis, Aortic valve stenosis, Patent ductus art... OMIM:300166
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Tetral... OMIM:107480
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Atrioventricular canal defect, Horseshoe kidney OMIM:617088
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration,... OMIM:615287
Trisomy 10P
Abnormality of the kidney, Multiple renal cysts ORPHA:171929
Loeys-Dietz Syndrome 3
Dilatation of the cerebral artery, Aortic regurgitation, Arterial tortuosity, Aortic aneurysm, At... OMIM:613795
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c... OMIM:300967
Aneurysm-Osteoarthritis Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Arterial tortuosity, Aortic regurgitation... ORPHA:284984
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Craniofacial Microsomia 1
Ectopic kidney, Right aortic arch, Vesicoureteral reflux, Renal agenesis, Coarctation of aorta, U... OMIM:164210
Rubinstein-Taybi Syndrome 1
Hypospadias, Aortic isthmus hypoplasia, Coarctation of aorta, Hydronephrosis, Vascular ring, Pate... OMIM:180849
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Enlarged lacrimal glands, Pancreatitis, Cholangitis, Lymphadenopathy, ... ORPHA:449563
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Abnormal heart valve morph... ORPHA:77293
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:365
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
African Trypanosomiasis
Myocarditis, Jaundice, Urinary incontinence, Lymphadenopathy, Hepatomegaly, Abnormal prolactin le... ORPHA:3385
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Cryptorchidism ORPHA:96191
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis ORPHA:93271
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Tricuspid stenosis, Chronic n... ORPHA:100079
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal aortic arch morphology, Pulmonar... ORPHA:96334
Yunis-Varon Syndrome
Hypospadias, Renal artery stenosis, Cardiomyopathy, Cryptorchidism, Renovascular hypertension, Te... ORPHA:3472
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261537
C Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney ORPHA:1308
Feingold Syndrome 1
Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus OMIM:164280
Mowat-Wilson Syndrome
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Paten... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Patent ductus arteriosus, Pelvic... ORPHA:261552
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Cherubism
Submandibular lymph node enlargement OMIM:118400
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo... ORPHA:99889
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Corneal neovascularization, Hypospadias, Unilateral renal agenesis, Hypertension, Renal agenesis,... OMIM:308205
Mucopolysaccharidosis Type 2
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Peripheral arterial stenosis, Arrhythmia ORPHA:580
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Dysuria, Abnormal penis morpho... ORPHA:95455
Pallister-Killian Syndrome
Hypospadias, Renal cyst, Hypertrophic cardiomyopathy, Aortic valve stenosis, Coarctation of aorta... OMIM:601803
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Renal insu... ORPHA:199
Plague
Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis ORPHA:707
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Branchiooculofacial Syndrome
Hypospadias, Duplication of internal organs, Renal cyst, Renal agenesis, Ectopic thymus tissue, C... OMIM:113620
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Genitopatellar Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia OMIM:606170
Pmm2-Cdg
Abnormal renal tubule morphology, Angina pectoris, Reduced thyroxin-binding globulin, Hypertrophi... ORPHA:79318
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch ORPHA:513456
Hypertension, Essential
Elevated systolic blood pressure, Elevated mean arterial pressure, Elevated diastolic blood pressure OMIM:145500
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Kidney - MPATH pathological process term necrosis Ptgisem1(IMPC)Mbp HOM Early adult
Kidney - MPATH pathological process term fibrosis Ptgisem1(IMPC)Mbp HOM Early adult
Kidney - MPATH pathological process term chronic inflammation Ptgisem1(IMPC)Mbp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptgis.

No publications found that use IMPC mice or data for Ptgis.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptgisem1(IMPC)Mbp Exon Deletion Mice, Tissue
Ptgistm33670(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ptgistm33670(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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