Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Serkal Syndrome |
|
Hypoplasia of the bladder, Ventricular septal defect, Sex reversal, Renal agenesis, Pulmonary hyp... |
ORPHA:139466 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, External genital hypoplasia, Renal... |
OMIM:615993 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, 3-Methylglutaconic aciduria, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Renal Tubular Dysgenesis |
|
Polyhydramnios, Proximal tubulopathy, Pulmonary hypoplasia, Oligohydramnios, Nephropathy, Multipl... |
ORPHA:3033 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Bilateral lung agenesis, Sex reversal, Adre... |
OMIM:611812 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia, Bilateral renal agenesis |
OMIM:615721 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res... |
OMIM:263000 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia, Bilateral renal agenesis |
OMIM:619887 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pulm... |
OMIM:615415 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Left ventricular hypertrophy, Respiratory distress, Pulmonary hypoplasia, Hypert... |
OMIM:616733 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure, Pulmonary insufficiency, Stage 5 chronic kidney d... |
OMIM:602088 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Jeune Syndrome |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Nephropathy, Nephronophthisis, Renal ... |
ORPHA:474 |
Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:3032 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Respiratory insufficiency, Vesicoureteral reflux, Ambiguous genitalia, Bifid ureter, Renal dyspla... |
OMIM:617641 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Cough, Mediastinal lymphadeno... |
ORPHA:60026 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Hypogonadism, External genital hypoplasia, Atrial septal defect, Hypop... |
OMIM:615996 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Chronic bronchitis, Hypogonadism, Stage 5 chronic kidney disease, N... |
OMIM:616629 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Hypertension, Hypogonadism |
OMIM:618681 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... |
ORPHA:439232 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Pulmonary hypoplasia, Oligohydramnios, Renal cyst, Stillbirth... |
OMIM:236500 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Renal insufficiency, Renal hypoplasia/aplasia, Hypercalcemia, Hepatomegaly, Thrombocytope... |
ORPHA:2123 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Lacticaciduria,... |
OMIM:619003 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury |
ORPHA:33111 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Pulmonary hypoplasia, Malformation of the hepatic d... |
OMIM:208540 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephroblastoma, Parathyroid adenoma, Papillary... |
OMIM:145001 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Jaundice, Enlarged kidney, Hepatocellular ... |
OMIM:619902 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Diffuse alveolar hemorrh... |
OMIM:614034 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Respiratory insufficiency, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/apla... |
ORPHA:1046 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Annular pancreas, Pulmonary hypoplasia... |
ORPHA:2470 |
Asbestos Intoxication |
|
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonproductive coug... |
ORPHA:2302 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
46,Xy Sex Reversal 4 |
|
Hydronephrosis, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic... |
OMIM:154230 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Agenesis of pulmonary vessels, Bilateral lung agenesis, Pulmonary arte... |
OMIM:601186 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... |
OMIM:616425 |
Gombo Syndrome |
|
Delayed puberty, Microphthalmia |
OMIM:233270 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Stage 5 ... |
OMIM:137920 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Pallor, Dyspnea, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Myotubular Myopathy With Abnormal Genital Development |
|
Polyhydramnios, Penile hypospadias, Bifid scrotum, Death in infancy, Bilateral cryptorchidism, Am... |
OMIM:300219 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Pulmonary artery atresia, Atrial septal defec... |
OMIM:612946 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Anemia, Hyperparathyroidism, Hypercalcemia, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polyhydramnios, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal lung lobation, Pulmonary... |
OMIM:263210 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Bicornuate uterus |
OMIM:615524 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
Apnea, Central Sleep |
|
Cyanosis, Urinary incontinence, Irregular respiration, Abnormal pattern of respiration, Sleep apnea |
OMIM:207720 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Renal dysplasia, Premature... |
ORPHA:96179 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Primary Ciliary Dyskinesia |
|
Asplenia, Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Pol... |
ORPHA:244 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Polyuria, Hypercalcemia, N... |
OMIM:616963 |
46,Xy Sex Reversal 6 |
|
Gonadoblastoma, Sex reversal, Clitoral hypertrophy, Hypospadias, Gonadal dysgenesis, Chordee, Dys... |
OMIM:613762 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... |
ORPHA:168558 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Oligospermia, Precocious puberty, Long penis |
ORPHA:3000 |
Odontochondrodysplasia 1 |
|
Death in infancy, Polycystic kidney dysplasia, Pulmonary hypoplasia, Respiratory distress, Nephro... |
OMIM:184260 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Nephrolithiasis, Hypercalcemia, Parathyroid carcinoma |
OMIM:617343 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Hypospadias, Recurrent respiratory infections, Abnormal testis m... |
ORPHA:1548 |
Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Bicornuate uterus, Bilateral renal agenesis, Pulmonary hypoplasia, Hypertension,... |
OMIM:191830 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Anterior hypopituitarism, Renal dysplasia, Pulmonary hypoplasia, Micropenis |
OMIM:241800 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Pulmonary hypoplasia, Hypospadias, Abnormal heart morphology, Cryptorc... |
OMIM:300978 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Anophthalmia, Enlarged kidney, Polycystic kidney dysplasia, Microphthalmia, ... |
OMIM:613885 |
Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
Meacham Syndrome |
|
Pulmonary hypoplasia, Blind vagina, Septate vagina, Ventricular septal defect, Bicornuate uterus,... |
OMIM:608978 |
Distal Trisomy 6P |
|
Renal hypoplasia, Abnormality of the urinary system, Abnormal lung lobation, Hydronephrosis |
ORPHA:1745 |
Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis, Hypoplastic left heart |
OMIM:236110 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Ambiguous genitalia, Renal agenesis, Maternal diabetes, Pulmonary hypoplas... |
ORPHA:3027 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... |
OMIM:265120 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, Pulmonary ... |
ORPHA:2257 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenocorticotropic hormone excess, Sex reversal, Adrenal insufficiency, Rena... |
OMIM:613743 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Hypospadias, Hypercalcemia, Cryptorchidism... |
OMIM:614732 |
Joubert Syndrome 15 |
|
Nephronophthisis, Ambiguous genitalia, Micropenis |
OMIM:614464 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Ventricular septal defect, Atrial septal defect, Respiratory failure, ... |
OMIM:253300 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR... |
ORPHA:99931 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena... |
ORPHA:411709 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Anemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segme... |
OMIM:613092 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia, Hypopituitarism |
ORPHA:140976 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Ventricular septal defect, Shawl scrotum, Hypoplasia of penis, Cryptorchidism, Re... |
ORPHA:2256 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Premature ovarian insufficiency, Hypertension, Nephronophthisis, ... |
ORPHA:3156 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Severe Congenital Nemaline Myopathy |
|
Polyhydramnios, Edema of the dorsum of hands, Pulmonary hypoplasia, Hypospadias, Respiratory fail... |
ORPHA:171430 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Polyhydramnios, Atrioventricular canal defect, Enlarged kidney, Pulmonary hypop... |
OMIM:314390 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive vent... |
ORPHA:1302 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Acute Interstitial Pneumonia |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Subpleural honey... |
ORPHA:79126 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Abnormality of medullary pyramid morphology, Ventricular septal de... |
ORPHA:79243 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
Endocrine-Cerebroosteodysplasia |
|
Polyhydramnios, Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cr... |
OMIM:612651 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Hyperparathyroidism, Hypercalcemia, Nephrocalcinosis, Hypercalciuria |
OMIM:239199 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusio... |
OMIM:616897 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... |
OMIM:263200 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia, Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Micropenis |
OMIM:248700 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... |
OMIM:610913 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hydrops fetalis, Polycystic kidney dysplasia, Pulmonary hypoplasia, Renal cyst, Hypospadias, Rena... |
OMIM:614091 |
Autosomal Recessive Amelia |
|
Polyhydramnios, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Hypoplasia o... |
ORPHA:1027 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Decreased fertility, Multicystic kidney dysplasi... |
ORPHA:2970 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury, Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiri... |
ORPHA:140896 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Recurrent urinary tract infections, Pulmonic steno... |
OMIM:609029 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Death in infancy, Pulmonary hypoplasia, Congestive he... |
OMIM:614096 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Hypogonadism |
OMIM:615987 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Atrial septal defect, Apnea, Cryptorchidism, ... |
ORPHA:85201 |
Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Decreased testicular size, Cry... |
ORPHA:85284 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int... |
OMIM:614377 |
Emanuel Syndrome |
|
Truncus arteriosus, Hypogonadism, Ventricular septal defect, Pulmonic stenosis, Infertility, Unil... |
ORPHA:96170 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, External genital hypoplasia, Tricuspid regurgitation |
OMIM:600151 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Hematuria, Renal neoplasm, Lymphadenopathy, Hypercalcemia, Thrombo... |
ORPHA:69077 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Abnormal morphology of female internal genitalia |
ORPHA:2141 |
Familial Isolated Hyperparathyroidism |
|
Primary hyperparathyroidism, Parathyroid adenoma, Hyperphosphaturia, Hypophosphatemia, Hypercalce... |
ORPHA:99879 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Pseudohypoparathyroidism, Cryptorchidism, Renal hypoplasia, Sleep apnea, A... |
ORPHA:464288 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... |
OMIM:244400 |
Distal Tetrasomy 15Q |
|
Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Pulmonary hypoplasia, Hyd... |
ORPHA:314588 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Pagod Syndrome |
|
Sudden cardiac death, Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal testis morpholo... |
ORPHA:991 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Unilateral renal agenesis, Atrial septal defect,... |
OMIM:618494 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia, Respira... |
OMIM:608022 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Parachute mitral ... |
OMIM:618316 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Hypercalcemia, Infantile, 1 |
|
Medullary nephrocalcinosis, Polyuria, Hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Hypercalc... |
OMIM:143880 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Recurrent pneumonia, Decreased serum leptin, Recurrent u... |
OMIM:614962 |
46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Ventricular septal defect, Posterior pituitary hypoplasia,... |
ORPHA:75389 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure, Micropenis, Cryptorchidism |
ORPHA:370968 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Testicular microlithiasis, Pneumothorax, Bronchiectasis, Oxygen desatu... |
ORPHA:60025 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough, Hepatomegaly, Recurrent respiratory... |
ORPHA:77260 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Atrial septal defect, Renal... |
OMIM:610205 |
Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
Breath-Holding Spells |
|
Cyanosis, Iron deficiency anemia, Pallor |
OMIM:607578 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Hemosiderin-laden macrophages i... |
OMIM:616414 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Pulmonary hy... |
OMIM:231680 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure, Aspiration pneumonia, Dyspnea, Cough, Abnormality of the urinary system, Res... |
ORPHA:90117 |
Cach Syndrome |
|
Secondary amenorrhea, Premature ovarian insufficiency, Oligohydramnios, Gonadal dysgenesis, Prima... |
ORPHA:135 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Polyhydramnios, Ambiguous genitalia, Neonatal death, Patent foramen ov... |
OMIM:269860 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Hy... |
ORPHA:94086 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Pneumothorax, Polycystic kidney dysplasia, Pulmonary hypoplasia, Oligohydram... |
OMIM:619879 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... |
OMIM:610910 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Acute Myelomonocytic Leukemia |
|
Anemia, Pallor, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Calcium... |
ORPHA:97289 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Micropenis, Hypogonadism, Cryptorchidism |
ORPHA:85274 |
Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cyst,... |
OMIM:611560 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Fetal pyelectasis, Pulmonary hypoplasia |
OMIM:616531 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Vesicoureteral reflux, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:1166 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Mucopolysacchariduria, Hypercalcemia, Hepatomegaly, Cryptorchidism, Hypocalcemia,... |
OMIM:618440 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Hypercalcemia, Nephroli... |
OMIM:145980 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
X-Linked Sideroblastic Anemia |
|
Anemia, Dyspnea, Splenomegaly, Pallor |
ORPHA:75563 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Ventricular septal def... |
OMIM:146510 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Hypertension,... |
ORPHA:97362 |
Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Tetralogy of Fallot, Micropenis |
OMIM:617926 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Respiratory insufficiency, Polyhydramnios, Cryptorchidism, Nephrocalcinosis, Recurrent respirator... |
OMIM:615633 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Hypotension, Anuria, Pulmonary hypoplasia, Oligohydramnios, Abnormalit... |
OMIM:267430 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Dyspnea, Hypergonadotropic hypogonadism, Arrhythmia, Respiratory failure,... |
ORPHA:352447 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Hematuria, Bruising susceptibility, Epistaxis, Hypoplastic... |
OMIM:185070 |
Lethal Congenital Contracture Syndrome 11 |
|
Polyhydramnios, Pulmonary hypoplasia |
OMIM:617194 |
Campomelic Dysplasia |
|
Polyhydramnios, Tracheobronchomalacia, Sex reversal, Respiratory distress, Apnea, Hypospadias, Re... |
OMIM:114290 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Polyhydramnios, Decreased response to growth hormone stimulation test, Mic... |
OMIM:603467 |
Denys-Drash Syndrome |
|
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Neonatal ... |
OMIM:194080 |
Pseudo-Torch Syndrome 2 |
|
Respiratory insufficiency, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Pleural... |
OMIM:617397 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Pulmonary hypoplasia, Renal cyst, Bilobed right lung, Bile duct proliferation... |
OMIM:612284 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Hypothyroidism, Delayed puberty, Cryptorchidism |
OMIM:616817 |
46,Xy Sex Reversal 9 |
|
Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis, Sex reversal |
OMIM:616067 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Respiratory insufficiency, Ambiguous genitalia, Pulmonary hypoplasia, Renal cyst, Stillbirth, Cry... |
OMIM:616300 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... |
ORPHA:60032 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... |
ORPHA:90301 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci... |
OMIM:145981 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Multicystic kidney dysplasia, Hypertension, Pulmonary fibrosis, Recurr... |
ORPHA:2111 |
Congenital Myopathy 17 |
|
Respiratory insufficiency, Polyhydramnios, Respiratory tract infection, Pulmonary hypoplasia, Ure... |
OMIM:618975 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Adrenal hypoplasia |
OMIM:613124 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Stage 5 chronic kidney disease, Atrial sept... |
OMIM:608629 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Polyhydramnios, Recurrent respiratory infections, Abnormal respiratory system physiology, Edema, ... |
ORPHA:98905 |
Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pu... |
OMIM:613490 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism, Bifid scrotum, Renal dysplasia, Telangiectasia of the skin, Hypoplasia of penis, ... |
ORPHA:85321 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Hypoxemia, Respiratory distress |
ORPHA:2140 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Absent testis |
OMIM:613094 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Anemia, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Hypercalcemia, ... |
OMIM:239200 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Bruising susceptibility, Pallor, Lymphadenopathy, Abnormal neutrophil count, Bone... |
ORPHA:3226 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... |
OMIM:600740 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Trisomy 13 |
|
Anophthalmia, Optic atrophy, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia... |
ORPHA:3378 |
Brain-Lung-Thyroid Syndrome |
|
Abnormal cardiac septum morphology, Compensated hypothyroidism, Hypoparathyroidism, Vesicouretera... |
ORPHA:209905 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Micropenis, Hypogonadism |
OMIM:615983 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Polyhydramnios, Patent foramen ovale, Respiratory failure, Pulmonary hypoplasia, Neonatal respira... |
OMIM:616867 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Cutis marmorata, Renal hypoplasia, Portal hypertension, Splenomegaly |
OMIM:616589 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
3-Methylglutaconic aciduria, Death in infancy, Abnormality of the kidney, Abnormal aortic valve m... |
ORPHA:1194 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension, Absence of renal corticomedullary differentiation, R... |
OMIM:619758 |
Mckusick-Kaufman Syndrome |
|
Pedal edema, Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Transverse vaginal ... |
OMIM:236700 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubulointerstitial nephritis, Glome... |
OMIM:614376 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Hypoplastic left heart, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Hypertension... |
OMIM:615862 |
Penile Agenesis |
|
Ambiguous genitalia, Absent penis, Bilateral lung agenesis, Bilateral renal agenesis, Ventricular... |
ORPHA:49 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Coloboma, Optic nerve hypoplasia, Ectopic posterior pituitary, Microphthalmia, Cryp... |
OMIM:610125 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Poikilocytosis, Anisocytosis, H... |
OMIM:615631 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
46,Xy Sex Reversal 8 |
|
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism |
OMIM:614279 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Micropenis, Death in infancy |
OMIM:602361 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Congenital megaureter, Pulmonary hypoplasia, Dextrocardia, Abnormality of the ... |
ORPHA:2437 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Hypospadias, Respiratory distress |
OMIM:300934 |
Even-Plus Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Recurrent urinary tract infections, Atrial septal de... |
OMIM:616854 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia |
OMIM:601389 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
Avian Influenza |
|
Pneumothorax, Productive cough, Acute kidney injury, Hypoxemia, Respiratory distress, Congestive ... |
ORPHA:454836 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Ventricular septal defect, Adrenal hypoplasia, Pulmonary hypoplasia, Hypospadias, ... |
OMIM:214100 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... |
OMIM:619658 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
Fryns Syndrome |
|
Vesicoureteral reflux, Polyhydramnios, Multicystic kidney dysplasia, Abnormal cardiac septum morp... |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia, Respiratory distress, Respi... |
OMIM:617895 |
Verheij Syndrome |
|
Renal cyst, Renal hypoplasia, Abnormal cardiac septum morphology, Renal agenesis |
OMIM:615583 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Bilateral renal agenesis, Vaginal atresia, Renal hypoplasia, Hyperechogenic ki... |
OMIM:617914 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, 3-Methylglutaconic aciduria, Pneumothorax, Renal cyst, Respiratory failure, Nephr... |
ORPHA:445038 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Bruising susceptibilit... |
ORPHA:1959 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Hypoplasia of the thymus, Death in infancy, Pulmonary hypoplasia, Multiple ... |
OMIM:613177 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Abnormal heart morphology, Stillbirth, Renal hypo... |
OMIM:276950 |
Meckel Syndrome 12 |
|
Bilateral renal agenesis, Ureteral hypoplasia, Oligohydramnios, Vaginal atresia, Renal hypoplasia... |
OMIM:616258 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism |
OMIM:615982 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Pallor, Abnormal urinary color, Dyspnea, Abnormal leukocyte morphology, Splenom... |
ORPHA:98375 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Exertional dyspnea, Pallor, Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly |
ORPHA:90037 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema |
OMIM:618773 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Polyhydramnios, Renal dysplasia, Bladder trabeculation, Pulmonary hypoplas... |
OMIM:614080 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Renal amyloidosis, Abnormality of the k... |
ORPHA:85445 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Hyperurice... |
ORPHA:543 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... |
ORPHA:411703 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Hy... |
ORPHA:199241 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypo... |
OMIM:618280 |
Arthrogryposis Multiplex Congenita 6 |
|
Polyhydramnios, Death in infancy, Hypospadias, Respiratory failure, Neonatal death, Death in chil... |
OMIM:619334 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... |
OMIM:178500 |
Mosaic Trisomy 1 |
|
Polyhydramnios, Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Pulmonary hy... |
ORPHA:1692 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypogonadism, Absence of labia majora, Abnormal aortic valve morphology, Hypoplasia of penis, Pul... |
ORPHA:2990 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Exertional dyspnea, Jaundice, Pallor, Autoimmune hemolytic anemia, Ab... |
ORPHA:90033 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Macroorchidism, Increased circulating prolactin concentration, Precociou... |
ORPHA:562 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Polyhydramnios, Abnormality of the kidney, Pulmonary hypoplasia, Atria... |
ORPHA:2655 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Respiratory insufficiency, Pancreatic cysts, Pulmonary insufficiency, Death in infancy, Pulmonary... |
OMIM:208500 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome, Acrocyanosis |
OMIM:123540 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the upper urinary tract, Abnormality of the ureth... |
ORPHA:2145 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Abnormal pericardium morphology, Ventricular septal defect, Renal dysplasia, ... |
ORPHA:1335 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Anisocytosis, Hepatomegaly, Renal hyp... |
OMIM:604273 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Isothenuria, Distal renal tubular acidosis, Pallor, Reticulocytosis, Hepatosple... |
OMIM:611590 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation, Renal dysplasia, Abnormal lung lobation, Hypoplasia of penis... |
ORPHA:99776 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Hydroureter, Death in infancy, Hydronephrosis |
OMIM:618240 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections |
ORPHA:284400 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... |
ORPHA:2004 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Fragile X Syndrome |
|
Congenital macroorchidism, Macroorchidism, postpubertal |
OMIM:300624 |
Atelosteogenesis, Type Ii |
|
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy |
OMIM:256050 |
Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Lung adenocarcinoma, Decreased DLCO, H... |
OMIM:618913 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Pulmonary hypoplasia, Oligohydramnios, Aplasia of th... |
OMIM:271520 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Respiratory distress, Cryptorchidism, Death in childhood, Micropenis |
OMIM:615597 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Ascites, Renal insufficiency |
ORPHA:890 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria, Cryptorchidism |
ORPHA:1307 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Phosphoethanolaminuria, Elevated urine pyrophosphate, Hype... |
OMIM:241500 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Renal angiomyolipoma, Lymphedema, Hematuria, Chylopericardium, Emphysema, Renal neo... |
ORPHA:538 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Respiratory insufficiency, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Recurrent respi... |
OMIM:255320 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hypoplasia of penis, Iris coloboma, Hypospadias, Microphthalmia, Cryptorchidism |
ORPHA:77298 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness, Cryptorchi... |
OMIM:611890 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis, B... |
ORPHA:79328 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Maternal diabetes, Pulmonary hypoplasia, Atrial septal defect, Hypospa... |
ORPHA:1708 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Gonadotropin deficiency, Oxygen desaturation on exertion, Crackles, Compensated hypothyroidism, W... |
OMIM:610978 |
Atelosteogenesis Type I |
|
Polyhydramnios, Abnormal pancreatic duct morphology, Multiple renal cysts, Pulmonary hypoplasia |
ORPHA:1190 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Death in infancy, Renal cyst, Renal hypoplasia, Renal in... |
OMIM:614922 |
Dermatitis, Atopic |
|
Facial erythema, Allergic rhinitis, Asthma, Pallor, Dry skin |
OMIM:603165 |
Joubert Syndrome 21 |
|
Pulmonary hypoplasia, Renal cyst, Apnea, Dyspnea, Hyperechogenic kidneys |
OMIM:615636 |
Burn-Mckeown Syndrome |
|
Renal hypoplasia, Unilateral renal agenesis, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia, Pancreatic fibrosis, Extrapulmonar... |
OMIM:200995 |
Meacham Syndrome |
|
Ambiguous genitalia, Hydrometrocolpos, Abnormal vagina morphology, Conotruncal defect, Ventricula... |
ORPHA:3097 |
Tarp Syndrome |
|
Pulmonary hypoplasia, Atrial septal defect, Apnea, Horseshoe kidney, Cryptorchidism, Tetralogy of... |
ORPHA:2886 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Death in infancy, Adrenal insufficiency, Lacticaciduria, Hypertrophic cardiomyopat... |
OMIM:619386 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Renal agenesis, Respirat... |
ORPHA:3015 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Thromboc... |
OMIM:619751 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:619424 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Polyhydramnios, Pulmonary hypoplasia, Cryptorchidism |
ORPHA:994 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Respiratory distress, Pallor, Hepatomegaly, Respiratory insufficiency due t... |
OMIM:613561 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia, Stillbirth |
OMIM:617468 |
Ulbright-Hodes Syndrome |
|
Respiratory failure, Pneumothorax, Enlarged labia minora, Polycystic kidney dysplasia, Maternal d... |
ORPHA:3404 |
Malaria |
|
Acute kidney injury, Anemia, Thrombocytopenia, Respiratory distress |
ORPHA:673 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Pedal edema, Right bundle branch block, Bidirectional shunt, Systolic heart... |
ORPHA:439 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia, Abnormal lung lobation, Total anomalous pulmonar... |
OMIM:208530 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Oligohydramnios, Hypertrophic cardiomyopathy, Renal hypoplasia, Neonatal respiratory d... |
OMIM:619053 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Cryptorchidism |
OMIM:224410 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Asplenia, Absent gallbladder, Respiratory distress, Annular panc... |
ORPHA:210122 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Nephroblastoma, Primary hyperparathyroidism, Uterine leiomyoma, Parath... |
ORPHA:99880 |
Polyembryoma |
|
Macroorchidism, Elevated circulating alpha-fetoprotein concentration, Abnormality of the peritone... |
ORPHA:180229 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Pulmonary edema, Reduced left ventricular ejection fraction, Acute kidney injury, De... |
ORPHA:542323 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Scedosporiosis |
|
Bronchitis, Endocarditis, Pleural empyema, Pleuritis, Abnormal respiratory system physiology, Per... |
ORPHA:449280 |
Image Syndrome |
|
Hydronephrosis, Hypogonadism, Hypospadias, Cryptorchidism, Adrenal hypoplasia |
ORPHA:85173 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydronephrosis, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Oligohydramnios, Renal... |
ORPHA:1834 |
Beta-Thalassemia |
|
Respiratory insufficiency, Anemia, Hepatitis, Skin ulcer, Pallor, Hepatomegaly, Cholelithiasis, T... |
ORPHA:848 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory tract infection, Left ventricular outflow tract obstructio... |
ORPHA:308552 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Neutropenia, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abno... |
ORPHA:238459 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... |
ORPHA:36238 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Bacterial endocarditis, Vent... |
ORPHA:99095 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cryptorchidism |
ORPHA:139471 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronopht... |
OMIM:616217 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca, Renal hypoplasia/ap... |
ORPHA:1112 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... |
ORPHA:178320 |
47,Xyy Syndrome |
|
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Increased circulating gonadotropin level,... |
ORPHA:8 |
Achondrogenesis Type 2 |
|
Cardiorespiratory arrest, Edema, Pulmonary hypoplasia |
ORPHA:93296 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Nephroblastoma, Primary hyperparathyroidism, Uterine leiomyoma, Renal ... |
ORPHA:143 |
Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Cyanosis, Asplenia, Biliary atresia, Enlarged kidney, Polysplenia, Renal... |
OMIM:306955 |
Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Ventricular septal defect, Hypoplastic labia majora, Hypoplastic nipples, ... |
OMIM:122470 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... |
ORPHA:75249 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Hypothyroidism, Patent foramen ovale, Decreased response to growth hormone... |
OMIM:609053 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Penoscrotal transposition, Left ventricular hypertrophy, Pulmonary hypoplasia, Hyp... |
OMIM:619148 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Renal agenesis, Pulmonic stenosis, Ectopic kidney |
OMIM:212780 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Abnormally large globe, Pulmonary lymphangiectasia, Hepatospl... |
ORPHA:1655 |
Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Polycystic kidney dysplasia, Renal agenesis, Absent nipple... |
OMIM:200980 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypoparathyroidism, Hypocalcemic seizures, Nephrocalcinosis, Hypocalcemia |
OMIM:146200 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Pulmonary hypoplasia, Cryptorchidism |
ORPHA:250999 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level, Sex reversal |
OMIM:613080 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, True anophthalmia, Microphthalmia, Retinal detachment, Reti... |
OMIM:615113 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Hypertension, Renal hypoplasia, Ren... |
OMIM:617595 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Rhyns Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Reduced circulat... |
OMIM:602152 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Cirrhosis, Myeloid leukemia, Premature graying of hair, Usual interstitial pneumonia, Ret... |
OMIM:614742 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Stt3B-Cdg |
|
Respiratory distress, Small scrotum, Micropenis, Cryptorchidism |
ORPHA:370924 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Bicornuate uterus, Renal agenesis, Atrial septal defect, Dextrocardia,... |
OMIM:264480 |
Snakebite Envenomation |
|
Hypotension, Respiratory paralysis, Cerebral ischemia, Acute kidney injury, Cardiogenic shock, Hy... |
ORPHA:449285 |
Tetragametic Chimerism |
|
Ambiguous genitalia, Abnormality of the scrotum, Abnormal testis morphology, Bifid scrotum, Gonad... |
ORPHA:199310 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Iris coloboma, Unilateral microphthalmos, Hypospadias |
OMIM:618874 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Angioedema, Small vessel vasculitis, Pericardial effusion, Hematuria, Emphysema, ... |
ORPHA:36412 |
46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Anemia, Stage 5 chronic kidney disease, Rena... |
OMIM:174000 |
Joubert Syndrome 2 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Renal cyst, Hypoplastic male external genit... |
OMIM:608091 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Ventricular septal defect, Chronic kidney disease |
OMIM:615630 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia, Hydr... |
ORPHA:3305 |
Cold Agglutinin Disease |
|