Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... |
OMIM:256370 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... |
OMIM:610725 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome |
OMIM:249660 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... |
OMIM:614131 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:615573 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... |
OMIM:615244 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617609 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot process effacement,... |
OMIM:617006 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Arthritis, Acute kidney ... |
ORPHA:567544 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome |
OMIM:614196 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
C1Q Deficiency |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... |
OMIM:619155 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney, Hypogonadism |
OMIM:615987 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:603278 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... |
OMIM:617730 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... |
OMIM:618349 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Prot... |
OMIM:608709 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic k... |
OMIM:136680 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Proteinuria,... |
OMIM:254900 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Adrenal insufficiency, Nephrotic syndrome, Stage 5 chronic ki... |
OMIM:617575 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Focal segmental glomerulosclerosis, Nephrotic sy... |
ORPHA:347 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, External genital hypoplasia, Renal cyst, Hypogonadism, Renal ins... |
OMIM:615993 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis |
OMIM:253240 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Diabetes mellitus |
DECIPHER:47 |
Complement Component 4A Deficiency |
|
Glomerulonephritis |
OMIM:614380 |
Hyperprolinemia Type 1 |
|
Prolinuria, Proteinuria, Nephropathy |
ORPHA:419 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, True hermaphroditism, Nephrotic syndr... |
OMIM:194080 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Actinic Prurigo |
|
Cheilitis, Glomerulonephritis, Pyoderma |
OMIM:174770 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... |
OMIM:618348 |
Tubulointerstitial Nephritis With Uveitis |
|
Reversible renal failure, Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Acute tubulo... |
OMIM:607665 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility, Nephrolithiasis |
OMIM:301060 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... |
OMIM:616425 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Gonadal dysgenesis |
OMIM:154230 |
Alport Syndrome |
|
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... |
ORPHA:63 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617731 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, External genital hypoplasia, Renal cyst, Diabetes mellitus |
OMIM:605231 |
46,Xy Sex Reversal 9 |
|
Fused labia minora, Ambiguous genitalia, Sex reversal, Gonadal dysgenesis |
OMIM:616067 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis |
OMIM:615872 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... |
ORPHA:329918 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency |
OMIM:161900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Gout, Renal cyst, Nephropathy, Chronic kidney disease |
OMIM:617056 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Nephropathy |
OMIM:614227 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:256100 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Congenital diaphr... |
DECIPHER:39 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism, Abnormality of the kidney |
OMIM:615982 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Oligospermia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:85450 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... |
ORPHA:54370 |
46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism |
OMIM:614279 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... |
ORPHA:84090 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Arthritis, Mesangial hypercellularity |
OMIM:616414 |
Retinitis Pigmentosa 59 |
|
Micropenis, Renal insufficiency, Cryptorchidism |
OMIM:613861 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Renal dysplasia, Bicornuate uterus... |
ORPHA:2578 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Abnormality of the uterus, Mul... |
OMIM:617805 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Lessel-Kubisch Syndrome |
|
Hypogonadism, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Renal cortical cysts |
OMIM:617668 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dyspl... |
OMIM:263200 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:618913 |
Isolated Anencephaly |
|
Omphalocele, Maternal diabetes, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypo... |
ORPHA:563609 |
Congenital unilateral pulmonary hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... |
ORPHA:2258 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Stillbirth, Cholestasis, Pulmonary hypoplasia |
OMIM:615415 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome, Hypergonadotropic hypogonadism |
OMIM:607426 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... |
OMIM:104200 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... |
OMIM:602522 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter, Renal cyst |
OMIM:138790 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Stillbirth, Abnormality of the endocrine system |
OMIM:274210 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... |
OMIM:231680 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis |
OMIM:616726 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Omphalocele, Congenital diaphragmatic hernia, Abnormality of the diaphragm, P... |
OMIM:601163 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:609049 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Emphysema, Flexion contracture |
ORPHA:171719 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash |
OMIM:152700 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary hypoplasia |
OMIM:615524 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Renal insufficiency |
OMIM:615996 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... |
OMIM:609814 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Cystinuria |
|
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis |
OMIM:300455 |
46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia |
OMIM:618999 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency, Nephropathy |
ORPHA:1909 |
Leopard Syndrome 1 |
|
Hypertrophic cardiomyopathy, Hypospadias, Third degree atrioventricular block, Hypoplasia of the ... |
OMIM:151100 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia |
ORPHA:2140 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Aplasia/hypoplasia of the uterus, Streak ovary, Absence of secondary sex characteristics, Increas... |
ORPHA:2232 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... |
ORPHA:93126 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency |
OMIM:615995 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis |
ORPHA:922 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease |
OMIM:618250 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele |
ORPHA:2141 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Azoospermia, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Hypopl... |
OMIM:601076 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Hypogonadism, Male |
|
Hypospadias, Micropenis, Male hypogonadism, Testicular atrophy |
OMIM:241100 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... |
OMIM:610984 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadoblastoma, Chordee, Dysgerminoma, Clitoral hypertrophy |
OMIM:613762 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
Mpdu1-Cdg |
|
Renal cortical cysts, Eczema |
ORPHA:79323 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Patent ductus arteriosus |
ORPHA:99811 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, External genital hypoplasia, Renal cyst, Stage 5 chronic kidney disease, Cryptorc... |
OMIM:613390 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria |
OMIM:619428 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... |
OMIM:619113 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Cryptorchidism, Abnormality of the kidney |
OMIM:613730 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Palpitations, Abnormal heart morphology, Pulmonary sequestration, Congenit... |
ORPHA:2847 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... |
OMIM:143400 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Bifid scrotum, Sex reversal, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Thyroiditis |
OMIM:619375 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome |
ORPHA:839 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian insuf... |
ORPHA:3156 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Nephrolithiasis |
OMIM:614723 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Ambiguous genitalia |
OMIM:614209 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Glomerulo... |
OMIM:614376 |
Serkal Syndrome |
|
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Congenital diaphragmatic herni... |
ORPHA:139466 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... |
OMIM:617729 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus |
ORPHA:261102 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Gonadoblastoma, Abnormality of male external genitalia, Ambiguous genitalia, Male p... |
OMIM:400044 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Gonadal dysgenesis, male, Renal cyst, Right aortic arch |
OMIM:231060 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Skin rash, Nephropathy, Proteinuria |
OMIM:105200 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Dia... |
ORPHA:439232 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis |
OMIM:232500 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, ... |
ORPHA:1166 |
46,Xy Sex Reversal 5 |
|
Sex reversal |
OMIM:613080 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Secondary amenorrhea |
ORPHA:3375 |
Nephrosialidosis |
|
Renal insufficiency, Nephropathy, Bone-marrow foam cells, Nephrotic syndrome |
OMIM:256150 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Congenital diaphragmatic hernia, Abnormal s... |
ORPHA:2470 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex congenita, Hypoplasia of the mu... |
OMIM:253310 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Atelectasis, Interlobular septal thickening,... |
ORPHA:2302 |
Nephronophthisis 13 |
|
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... |
OMIM:614377 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency |
OMIM:609886 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... |
OMIM:400045 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Cervic... |
OMIM:614034 |
46,Xy Ovotesticular Disorder Of Sex Development |
|
True hermaphroditism, Bifid scrotum, Gonadoblastoma, Chordee, Abnormality of the male genitalia, ... |
ORPHA:325345 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Abnormal lung lobation, Abnormal heart morphology, Congenital diaphragmatic hernia, ... |
OMIM:263210 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... |
ORPHA:70588 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Sex reversal |
OMIM:613743 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Abnormal aortic v... |
ORPHA:1120 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:614096 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Rowley-Rosenberg Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis |
OMIM:268500 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Hypogonadism, Unilateral renal agenesis, Cryptorchidism, Renal insufficiency |
ORPHA:281090 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Adrenal insufficiency, Decreased circulating aldosterone level, Hypopar... |
OMIM:240300 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, Aortic root aneu... |
ORPHA:730 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia, Hypopituitarism |
ORPHA:140976 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Adrenal hypoplasia, Pulmonary hypoplasia |
OMIM:613124 |
Harrod Syndrome |
|
Hypospadias, Renal cortical microcysts |
OMIM:601095 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... |
ORPHA:567546 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Membranous nephropathy, Recurrent otitis media, Arthritis, Stage 5 chronic ki... |
OMIM:615559 |
Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Arteriosclerosis, Elevated circulating th... |
OMIM:242900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary norepinephrine, E... |
ORPHA:276621 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Asthma, Parenchymal consolidation, Nonproductive cough, Restrictiv... |
ORPHA:2902 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:225 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis |
OMIM:134610 |
Arima Syndrome |
|
Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena... |
OMIM:243910 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency |
OMIM:245900 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular l... |
OMIM:619468 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Distal arthrogryposis, Ankle flexion contracture, Hip contracture, Arthrogryposis multiplex conge... |
OMIM:617468 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:375 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital posterior urethral valve, Decreased testicular size, Urogen... |
ORPHA:2970 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Renal insufficiency, Nephropathy |
OMIM:162000 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:615862 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Increased ... |
OMIM:616867 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Hypertension, Branchial cyst, Pulmonary hypoplasia, Abnormality of me... |
ORPHA:2260 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Joubert Syndrome 4 |
|
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency |
OMIM:609583 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Premature coronary artery athe... |
OMIM:615703 |
Joubert Syndrome 5 |
|
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... |
OMIM:610188 |
Stormorken Syndrome |
|
Myopathy, Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia |
OMIM:185070 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Glome... |
ORPHA:158684 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Renal insufficiency, Abnor... |
OMIM:194072 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria,... |
OMIM:251300 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Renal cortical microcysts |
OMIM:614866 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Nephronophthisis 16 |
|
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney |
OMIM:615382 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Recurrent pneumonia, Maculopapular exanthema, Memb... |
OMIM:619644 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Ochoa Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Vesicou... |
ORPHA:2704 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Aicardi-Goutieres Syndrome 9 |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Micrope... |
OMIM:619487 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:266900 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... |
ORPHA:8 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Acrorenal Syndrome, Autosomal Recessive |
|
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency |
OMIM:201310 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Abnormal heart morphology, Congenital diaphragmatic hernia, Micropenis, Pulmonary hy... |
OMIM:300978 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Camptodactyly of finger, Abnormal lung lobation |
ORPHA:2631 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Supravalvular aortic stenosis, Congenital diaphragmatic hernia, Inguinal hernia, Oligohydramnios,... |
OMIM:219100 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... |
OMIM:232200 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Primar... |
OMIM:269200 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Pulmonary hypoplasia, Cryptorchidism |
OMIM:224410 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Renal cortical ad... |
OMIM:145001 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Adrenal gland agenesis, Pulmonary artery stenosis, Bilateral lun... |
OMIM:611812 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Micropenis, Renal cyst |
OMIM:614175 |
Microphthalmia, Syndromic 9 |
|
Horseshoe kidney, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Renal h... |
OMIM:601186 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Renal cyst, Nephropathy |
OMIM:611773 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Aplasia of the thymus, Diffuse mesangial sclerosis |
OMIM:102700 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria |
OMIM:261100 |
Fechtner syndrome |
|
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass opacificati... |
OMIM:610978 |
Right Atrial Isomerism |
|
Abdominal situs ambiguus, Asplenia, Abnormal lung lobation, Total anomalous pulmonary venous retu... |
OMIM:208530 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Elevated... |
ORPHA:29072 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia,... |
OMIM:146255 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryptorchidism, M... |
ORPHA:752 |
Meacham Syndrome |
|
Death in infancy, Neonatal death, Aplasia of the left hemidiaphragm, Stillbirth, Patent ductus ar... |
OMIM:608978 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
C Syndrome |
|
Renal cortical cysts |
OMIM:211750 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... |
ORPHA:1303 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Proteinuria, Umbilical h... |
ORPHA:2143 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease |
OMIM:616629 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... |
OMIM:232220 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nephritis, Renal insufficiency |
ORPHA:3327 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney |
ORPHA:251004 |
Primary Ciliary Dyskinesia |
|
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Recurrent sinopulmonary infections, Peribronc... |
ORPHA:244 |
Meacham Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of the lungs,... |
ORPHA:3097 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Nephrotic syndrome |
OMIM:105120 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias |
ORPHA:1692 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Hyposegmentation of neutrophil nuclei, Hypergonadotropic hypogon... |
ORPHA:250999 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia |
OMIM:615228 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Nephrocalcinosis, Glomerular sclerosis, Pancreatic islet-cell hyperplasia... |
OMIM:276700 |
Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Inguinal hernia |
OMIM:614294 |
Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis, Abnormality of the diaphragm, Peripheral pulmonary vessel aplas... |
OMIM:273395 |
Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia |
ORPHA:36 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Renal cyst |
OMIM:228940 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:606996 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:228302 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital diaphragmatic hernia, Cryptor... |
ORPHA:2063 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Schimke Immuno-Osseous Dysplasia |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
ORPHA:1830 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Dia... |
OMIM:137920 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Displacement of the urethral meatus, Cryptorchidism, Hypoplasia of pen... |
ORPHA:2377 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... |
ORPHA:85445 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Renal insufficiency, Acute kidney injury, Uric acid nephrolithiasis, Crystalluri... |
ORPHA:411536 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Restric... |
ORPHA:724 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... |
OMIM:191800 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... |
ORPHA:94088 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:619003 |
Preeclampsia |
|
Polycystic ovaries, Acute kidney injury, Chronic kidney disease, Proteinuria, Abnormality of the ... |
ORPHA:275555 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia |
OMIM:617661 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Hepatitis, Arthritis, Glomerulonephritis |
OMIM:304790 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Emanuel Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia,... |
OMIM:609029 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Hypergonadotropic hypogonadism, Cryptorchidi... |
ORPHA:10 |
Jeune Syndrome |
|
Nephronophthisis, Renal insufficiency, Nephropathy |
ORPHA:474 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... |
OMIM:134600 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Compensated hypothyroidism, Proteinuria, Glomerular sclerosis, Nephropathy |
ORPHA:247691 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Simple Cryoglobulinemia |
|
Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hypercellularity, Microscopic h... |
ORPHA:91139 |
Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria |
OMIM:214100 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Renal dysplasia, Renal cyst, Micropenis, Decreased testicular size |
OMIM:615287 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
OMIM:236500 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Menorrhagia, Nephrocalcinosis, Tubulointerstitial fibrosis, Polycystic ovaries, Stage 5 chronic k... |
ORPHA:79259 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Abnormal renal morphology, Azoospermia |
ORPHA:99329 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy, Rena... |
ORPHA:79233 |
Arterial Tortuosity Syndrome |
|
Hypertension, Ventricular hypertrophy, Aortic regurgitation, Pulmonary artery stenosis, Congenita... |
OMIM:208050 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kid... |
OMIM:613095 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... |
ORPHA:1475 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Hypoplast... |
OMIM:618901 |
Bardet-Biedl Syndrome 17 |
|
Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Micropenis, Polyuria |
OMIM:615994 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Arthritis, Acut... |
ORPHA:2137 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Protein... |
OMIM:617303 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Hypospadias, Renal cortical cysts, Meningocele, Recurrent aspiration pneumonia, Renal dysplasia, ... |
ORPHA:397715 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease, Nephropathy |
OMIM:266920 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Acute kidney injury, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Vesicoureteral reflux |
OMIM:618548 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Incre... |
ORPHA:171430 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolif... |
OMIM:137940 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hematuria, Decreased glomerular filtration rate, Gout, Chroni... |
OMIM:232240 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
OMIM:612530 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Hydronephrosis, Myelomeningocele, Pulmonary hypoplasia, Congenital megaureter, Apla... |
ORPHA:2437 |
Hypouricemia, Renal, 1 |
|
Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin... |
OMIM:220150 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Glomerular sclerosis |
OMIM:223900 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Proteinuria |
OMIM:123550 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis |
ORPHA:99931 |
Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Renal cyst |
OMIM:615583 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric... |
ORPHA:449395 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Recurrent upper respiratory ... |
ORPHA:284180 |
Rhyns Syndrome |
|
Nephronophthisis, Pituitary hypothyroidism, Anterior hypopituitarism, Chronic kidney disease, Dec... |
OMIM:602152 |
Bardet-Biedl Syndrome |
|