Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... |
OMIM:615415 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Ataxia, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, T... |
OMIM:616737 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Preeclampsia |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Acute kidney ... |
ORPHA:275555 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia |
OMIM:612736 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Macroscopic hema... |
ORPHA:274 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Hydronephro... |
OMIM:611209 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... |
ORPHA:3032 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycop... |
OMIM:603585 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... |
ORPHA:567544 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia,... |
OMIM:222470 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Horseshoe ki... |
OMIM:607330 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Elevated circulating creatinine concentratio... |
OMIM:619468 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre... |
OMIM:274150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin... |
OMIM:266900 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... |
OMIM:174000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the thymus, Abnorma... |
ORPHA:84064 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati... |
ORPHA:329918 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia |
OMIM:619003 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, Thrombocy... |
ORPHA:487796 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... |
ORPHA:90060 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Elevated circulating c... |
OMIM:613095 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... |
ORPHA:185 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis... |
OMIM:208530 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ... |
OMIM:618885 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Pulmonary hypoplasia, Pulmonary sequestration, ... |
ORPHA:2847 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Parachute mitral va... |
OMIM:618316 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Agenesis of pulmonary vessels, Hypoplastic left at... |
OMIM:601186 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... |
OMIM:617718 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An... |
ORPHA:1335 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Absent gallbladder, Bilobed right lung, Anencephaly, Cystic liver diseas... |
OMIM:612284 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... |
OMIM:608836 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... |
OMIM:120330 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Chronic kidney disease, Elevated circulating creatinine concentration, Stage... |
ORPHA:730 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology |
OMIM:263210 |
Alg3-Cdg |
|
Neural tube defect, Pulmonary hypoplasia, Decreased liver function, Cardiomyopathy |
ORPHA:79321 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Bilateral renal hypoplasia, Elevated... |
ORPHA:2260 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney disease, Elevated ... |
ORPHA:439232 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A... |
OMIM:608149 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Increased... |
ORPHA:230 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... |
ORPHA:2257 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Stillbirth, Pulmonary hypoplasia, Neonatal death |
OMIM:236500 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Normochromic anemi... |
ORPHA:247691 |
46,Xy Sex Reversal 4 |
|
Ureteropelvic junction obstruction, Elevated circulating creatinine concentration, Hydronephrosis... |
OMIM:154230 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Elev... |
ORPHA:36234 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Abnormal heart morphology |
OMIM:300978 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries, Neonatal death, Atrioven... |
OMIM:314390 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Nephrotic syndrome, H... |
ORPHA:29073 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleur... |
OMIM:616897 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Atelosteogenesis, Type Ii |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:256050 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Pulmonary hypoplasia |
ORPHA:2655 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... |
ORPHA:93126 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio... |
OMIM:137920 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... |
ORPHA:3384 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... |
ORPHA:95430 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic periportal necrosis, Hepati... |
OMIM:231680 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Pulmonary hypoplasia |
OMIM:241800 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... |
ORPHA:99050 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis |
OMIM:202650 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Single ventricle |
OMIM:619879 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616866 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kidney disease, Elevated circulati... |
ORPHA:340 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Abnormal lung morphology, Abnormal heart morphology, P... |
ORPHA:1708 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Neonatal deat... |
OMIM:608013 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Pulmonary hypoplasia, Spina bifida occulta |
ORPHA:2437 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Anencephaly, Periportal fibro... |
OMIM:269860 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Pulmonary hypoplasia |
OMIM:224410 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia, Hypoplastic heart |
OMIM:312150 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... |
ORPHA:980 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
Thoracoabdominal Syndrome |
|
Ectopia cordis, Pulmonary hypoplasia, Anencephaly, Transposition of the great arteries |
OMIM:313850 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Hypoplastic heart |
OMIM:253290 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmona... |
ORPHA:2470 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Eosinophilia, Elevated circulating C-reactive protein concentra... |
ORPHA:449395 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umbilical hernia, Emphy... |
OMIM:613177 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly |
OMIM:620306 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Pulm... |
ORPHA:991 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Renal insufficiency, Elevated circulating creatine kinase concentra... |
ORPHA:99826 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Pulmonary hypoplasia, Abnormal heart morphology |
ORPHA:1865 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... |
OMIM:200995 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:612530 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Biliary hyperplas... |
ORPHA:731 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Anencephaly, Pulmonary hypoplasia, Pulmonic stenosis, Left ventricular hypertrophy |
OMIM:619148 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Umbilical hernia, Single ve... |
OMIM:308050 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia, Dextrocardia |
OMIM:248700 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... |
ORPHA:99125 |
Alg9-Cdg |
|
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal lung lobation, Abnormal h... |
ORPHA:79328 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Hepatic agenesis, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:1692 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:187600 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Pulmonary hypoplasia, P... |
OMIM:214100 |
Distal Triplication 15Q |
|
Atrial septal defect, Pulmonary hypoplasia, Abnormal heart morphology |
ORPHA:314588 |
Greenberg Dysplasia |
|
Hepatomegaly, Large placenta, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, ... |
OMIM:215140 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Umbilical hernia, Spina bifida occulta, Abnormal aortic valve morphology, Pulmonary hypoplasia |
ORPHA:2990 |
Yellow Fever |
|
Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Le... |
ORPHA:99829 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Renal Agenesis |
|
Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:411709 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Atrial se... |
OMIM:263520 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Pulmonary hypoplasia |
ORPHA:3035 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Pulmonary hypoplasia |
OMIM:608022 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Pulmonary hypoplasia |
OMIM:614091 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary window, Pulmonary artery hypoplasia, Pulm... |
OMIM:620025 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Abnormal cardiac septum morphol... |
ORPHA:90652 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Occipital meningocele, Anencephaly, Pulmonary hypoplasia |
OMIM:616546 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Transp... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,... |
OMIM:617925 |
Genitopatellar Syndrome |
|
Atrial septal defect, Pulmonary hypoplasia |
ORPHA:85201 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia |
ORPHA:171430 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary hypoplasia, Atrial s... |
OMIM:617063 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia |
ORPHA:994 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:3309 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, La... |
OMIM:249000 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:2059 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:251230 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Pulmonary hypoplasia |
ORPHA:1190 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Stillbirth, Pulmonary hypoplasia, Polysplen... |
OMIM:229850 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Pulmonary hypoplasia |
OMIM:614080 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Sirenomelia |
ORPHA:1848 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Stillbirth, Pulmonary hypoplasia |
OMIM:616300 |
Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Pulmonary hypoplasia, Te... |
ORPHA:1199 |
Restrictive Dermopathy 1 |
|
Hydropic placenta, Stillbirth, Short umbilical cord, Neonatal death, Pulmonary hypoplasia, Atrial... |
OMIM:275210 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Dextrocardia, Jaundice, Biliary atresia, Abnormal cardiac septu... |
ORPHA:3310 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Pneumothorax, Abnormal heart morphology, Neonatal de... |
OMIM:612289 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces, Mitral valve prolapse |
ORPHA:536467 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Large placenta, Pulmonary artery s... |
ORPHA:96334 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Transposition of the great arteries, Short umbilical cord, Small pl... |
ORPHA:1662 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:2886 |
Neu-Laxova Syndrome |
|
Pulmonary hypoplasia, Spina bifida |
ORPHA:2671 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Abnormal lung lobation, Cholestatic liver ... |
OMIM:270400 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Abnormality of the gallbladder, Abnormal lung lobation, Pulmonary hypo... |
ORPHA:818 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Perimembranous ventricular septal defect, Pulmonary hypoplasia... |
ORPHA:83617 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal defect, A... |
ORPHA:536471 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Respiratory infections in early life, Pulmonary hypoplasia |
ORPHA:96179 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Umbilical hernia, Pulmonary hypoplasia |
OMIM:265000 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia |
OMIM:618975 |
Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Abnormal heart morphology, Neural tube defect, Pulmonary hypoplasia, Hepatob... |
ORPHA:798 |
Raine Syndrome |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:259775 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulati... |
OMIM:619534 |
Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, Pulmonary hypoplasia, Short umbilical cord, Small placenta |
OMIM:208150 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia |
OMIM:601559 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Pulmonary hypoplasia, Splenomegaly |
OMIM:615636 |
Vacterl With Hydrocephalus |
|
Pulmonary hypoplasia, Spina bifida |
ORPHA:3412 |
Achondroplasia |
|
Pulmonary hypoplasia |
OMIM:100800 |
Atelosteogenesis Type Ii |
|
Pulmonary hypoplasia |
ORPHA:56304 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia, Short umbilical cord |
OMIM:616503 |
Penile Agenesis |
|
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:49 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Peritonitis, Pulmonary hypoplasia |
OMIM:619351 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Umbilical hernia, Pulmonary hypoplasia, Mitral valve prolapse |
ORPHA:666 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Pulmonary hypoplasia, Abnormal heart morphology |
OMIM:219000 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary hypoplasia |
ORPHA:86309 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia |
ORPHA:50945 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Tetraamelia Syndrome 1 |
|
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Acrorenal-Mandibular Syndrome |
|
Pulmonary hypoplasia |
OMIM:200980 |
Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:2753 |
Fraser Syndrome |
|
Encephalocele, Myelomeningocele, Abnormal lung lobation, Pulmonary hypoplasia, Umbilical hernia |
ORPHA:2052 |
Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:606170 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Stillbirth, Pulmonary hypoplasia, Atrial ... |
OMIM:601803 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Branchial anomaly, Pulmonary hypoplasia, Tetr... |
OMIM:164210 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Pulmonary hypoplasia |
ORPHA:93271 |
Ulbright-Hodes Syndrome |
|
Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Pulmonary hypoplasia |
OMIM:309800 |
Renal Cell Carcinoma, Nonpapillary |
|
|
OMIM:144700 |