Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... |
OMIM:619902 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... |
OMIM:214110 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjunctival i... |
ORPHA:53035 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Development... |
OMIM:610199 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function |
OMIM:600666 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Galactosuria, Cataract |
OMIM:230200 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Devel... |
OMIM:231680 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of... |
ORPHA:1988 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Septate vagina, Unil... |
ORPHA:2237 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Rhyns Syndrome |
|
Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Ureteral duplication, Renal insufficiency, Cataract, Hepatomegaly,... |
OMIM:608836 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Hypospadias, Elevated circulating aspart... |
OMIM:614866 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Corneal dystrophy, Dilatation of the rena... |
ORPHA:314588 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Cataract, Urethral stenosis, Polycystic kidney dysplasia, Hy... |
ORPHA:261290 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:614091 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas |
ORPHA:2924 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... |
OMIM:219080 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... |
OMIM:236700 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Depression, Attention deficit hyperactivi... |
ORPHA:3375 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Cataract, Cryptorchidism, Congenital hepatic fibrosis, ... |
ORPHA:2377 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... |
OMIM:103900 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... |
OMIM:113650 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... |
ORPHA:26791 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Senior-Loken Syndrome |
|
Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Ne... |
ORPHA:3156 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ... |
ORPHA:84064 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... |
ORPHA:805 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm... |
ORPHA:400 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... |
OMIM:137920 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Renal cyst, Vaginal atresia |
OMIM:605231 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary... |
OMIM:615830 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ... |
OMIM:146200 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Malform... |
OMIM:249000 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism |
ORPHA:1381 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... |
ORPHA:2970 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Cataract, Hypergonadotropic hypogonadism, Elevated circulating as... |
OMIM:230400 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus |
OMIM:619879 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... |
OMIM:615954 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis |
OMIM:260570 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Hypospadias, Renal cyst |
OMIM:231060 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens,... |
ORPHA:93111 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Brushfield sp... |
ORPHA:912 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hyperinsulinem... |
ORPHA:79237 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Abnormality of the liver, Cataract, Hypergonadotropic hypogonadism, Depression |
OMIM:614307 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Asplenia, ... |
OMIM:273395 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Abnormality of the tonsils, Cryptorch... |
ORPHA:567 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... |
OMIM:216360 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Decreased liver function, Cholestasis |
ORPHA:570422 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... |
OMIM:613390 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... |
OMIM:602579 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disea... |
OMIM:612284 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Abnormal circulating hormone conce... |
ORPHA:314478 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... |
ORPHA:97362 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Cognitive im... |
OMIM:615989 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplas... |
OMIM:617053 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Bicornuate uterus, Ap... |
OMIM:200980 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... |
ORPHA:893 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Cataract, Hypothyroidism, Renal cyst, Nephroc... |
ORPHA:445038 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... |
ORPHA:96149 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... |
OMIM:614817 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Depression, Memory impairment, Cho... |
ORPHA:79095 |
Epidermal Nevus Syndrome |
|
Astigmatism, Polycystic kidney dysplasia |
ORPHA:35125 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Extramedullary hem... |
ORPHA:79303 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism, Dexamethaso... |
ORPHA:369929 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
OMIM:617100 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis, Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis |
OMIM:263520 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Trisomy 13 |
|
Cataract, Cryptorchidism, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Multiple ren... |
ORPHA:3378 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... |
OMIM:615415 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat... |
OMIM:311200 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellit... |
ORPHA:261265 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... |
OMIM:120330 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Sex reversal, Adrenal gland ag... |
OMIM:611812 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Cataract, Renal cyst, Conjunctivitis, Attention... |
ORPHA:488618 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th... |
ORPHA:2869 |
Floating-Harbor Syndrome |
|
Short attention span, Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation... |
ORPHA:2044 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... |
OMIM:267010 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract, Vaginal neoplasm, Papillary renal cell carcinoma type 2, Uterine leiomyoma, Uterine lei... |
ORPHA:523 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Cataract, Female hypogonadism, Chronic active hepatitis, Decreased circulatin... |
OMIM:240300 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hy... |
ORPHA:96181 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Gracile Bone Dysplasia |
|
Aniridia, Micropenis, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... |
OMIM:203780 |
Roberts Syndrome |
|
Cataract, Cryptorchidism, Thrombocytopenia, Long penis, Polycystic kidney dysplasia, Clitoral hyp... |
ORPHA:3103 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic ki... |
OMIM:614376 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
Meckel Syndrome, Type 10 |
|
Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hyp... |
OMIM:601186 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m... |
ORPHA:2075 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Cognitive impairment, Micropenis |
OMIM:615994 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... |
OMIM:614922 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Ogden Syndrome |
|
Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Cryptorchidism, Jaundice, Microvesicu... |
OMIM:300855 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Joubert Syndrome 9 |
|
Cataract, Hepatic fibrosis, Stage 5 chronic kidney disease, Astigmatism |
OMIM:612285 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia, Iris coloboma |
OMIM:102500 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Diabetes mellitus, Diabetes insi... |
OMIM:222300 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R... |
OMIM:613550 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:99880 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Bardet-Biedl Syndrome 1 |
|
Cataract, Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Biliary t... |
OMIM:209900 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Cataract, Pancytopenia, Cryptorchidism, ... |
ORPHA:85321 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Nephropathy |
OMIM:247410 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Cataract, Confusion, Autoimmune hypoparathyroidism, Depression, Irritabi... |
ORPHA:36913 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:143 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina mor... |
ORPHA:247768 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy, Abnormality of the bladder, Hematuria, Abnormal morphology of female... |
ORPHA:1839 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... |
ORPHA:2969 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Cataract, Hypospadias |
ORPHA:2115 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Corneal opacity, Asplenia, Cryptorchidism, Horseshoe kidney... |
ORPHA:99776 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Cryptorchidism, ... |
OMIM:268300 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... |
OMIM:193300 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cataract, Cryptorchidism, Microcornea, Vaginal atresia, Iris coloboma |
ORPHA:3301 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Nephropathy, Cataract, Abnormal circulating calcium-phosphate regulating horm... |
ORPHA:2238 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Confusion, Hepatosplenomegaly, Oligosacchariduria, Depre... |
ORPHA:309288 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... |
ORPHA:464329 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Wagro Syndrome |
|
Cataract, Proteinuria, Corneal opacity, Hypoplastic female external genitalia, Low frustration to... |
OMIM:612469 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Renal tubu... |
ORPHA:562 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Vesicoureteral re... |
OMIM:118450 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia |
OMIM:185070 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Maternal diabetes, Cryptorchidism, H... |
OMIM:134780 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... |
ORPHA:1318 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
ORPHA:480536 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Progressive neurologic deterioration, Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic ki... |
OMIM:210710 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Cataract, Hypospadias, Nephroblastoma, Cryptorchidis... |
OMIM:257300 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... |
OMIM:208500 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased... |
OMIM:146510 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology... |
OMIM:236680 |
Cadds |
|
Elevated hepatic transaminase, Cataract, Cholangitis, Adrenal hypoplasia, Cholestasis |
ORPHA:369942 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... |
ORPHA:167 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Hepatoblastoma, Cardio... |
OMIM:130650 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Stage 5 chr... |
OMIM:308940 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Agonadism, Abn... |
ORPHA:991 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Attention deficit hyperac... |
OMIM:191100 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Proteinuria, Hypothy... |
OMIM:212065 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Primary adrenal insufficiency, Renal c... |
OMIM:261515 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Cataract, Renal agenesis, Microcornea, Iris coloboma, Hydronephrosis |
ORPHA:1297 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Renal cortical cysts, Renal cyst, Opacification of the corneal stroma, Micropen... |
ORPHA:1692 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen... |
ORPHA:261344 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pi... |
ORPHA:464311 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Cataract, Cholangitis, Pancreatic cysts, Congenital hepatic f... |
OMIM:266920 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Corneal dystrophy, Corneal opacity, Cryptorchidism, Hypoplastic labia minora, Absenc... |
ORPHA:495875 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... |
OMIM:122470 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Hypoplasminogenemia |
|
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Cataract, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... |
OMIM:175200 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena... |
ORPHA:261494 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Hepatic steatosis, Penoscrotal hypospadias,... |
OMIM:270400 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Renal cyst, Polycystic ovaries, Megalocornea, Congen... |
ORPHA:137675 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis |
OMIM:610125 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Neutropenia, Renal hypoplasia, Renal cyst, Corneal scarring, Buphthalmos, P... |
OMIM:618460 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Cataract, Non-acidotic proximal tubulopathy,... |
ORPHA:1652 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... |
ORPHA:2473 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem... |
ORPHA:538 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryp... |
OMIM:229850 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... |
ORPHA:49 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Corneal opacity, Cryptorch... |
ORPHA:464306 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia |
ORPHA:2135 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Cryptorchidism, Bicornuate uterus, Ve... |
ORPHA:2059 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypothyroidism |
OMIM:618829 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Polycythe... |
ORPHA:116 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital ... |
ORPHA:369837 |
Joubert Syndrome 14 |
|
Irritability, Renal cyst |
OMIM:614424 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy |
ORPHA:85201 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoacidur... |
ORPHA:534 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Thrombocytopenia |
OMIM:619980 |
Immunodeficiency 96 |
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Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased mean corpuscular volume, Inc... |
OMIM:619774 |
Microgastria-Limb Reduction Defect Syndrome |
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Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... |
ORPHA:2538 |
2Q37 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple, Attention deficit hyperactivi... |
ORPHA:1001 |
Distal Renal Tubular Acidosis |
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Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Focal Dermal Hypoplasia |
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Acute hepatic failure, Multicystic kidney dysplasia, Corneal opacity, Renal hypoplasia/aplasia, E... |
ORPHA:2092 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Cataract, Congenital hypo... |
ORPHA:79500 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... |
OMIM:618454 |
Norrie Disease |
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Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Short-Rib Thoracic Dysplasia 12 |
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Hepatomegaly, Splenomegaly, Renal hypoplasia, Periportal fibrosis, Hypoplastic nipples, Ambiguous... |
OMIM:269860 |
2P15P16.1 Microdeletion Syndrome |
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Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Atte... |
ORPHA:261349 |
Marden-Walker Syndrome |
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Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Cranioectodermal Dysplasia 2 |
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Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili... |
OMIM:613610 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormalit... |
ORPHA:1606 |
Joubert Syndrome 2 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Hypoplastic male external genitalia |
OMIM:608091 |
Cutis Marmorata Telangiectatica Congenita |
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Multicystic kidney dysplasia, Leukocoria, Cognitive impairment, Displacement of the urethral meat... |
ORPHA:1556 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Renal cyst, Attention deficit hyperactivity disorder, Peters anomaly... |
OMIM:616975 |
Attenuated Familial Adenomatous Polyposis |
|
Uterine leiomyoma, Multiple renal cysts, Thyroid adenoma |
ORPHA:220460 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Abnormal pancreatic duct morphology |
ORPHA:1190 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosi... |
ORPHA:93271 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormality of the kidney... |
ORPHA:857 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Biliary cirrhosis, De... |
ORPHA:99413 |
Turner Syndrome |
|
Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Biliary cirrhosis, De... |
ORPHA:881 |
Mosaic Monosomy X |
|
Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Biliary cirrhosis, De... |
ORPHA:99228 |
Monosomy X |
|
Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Biliary cirrhosis, De... |
ORPHA:99226 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Cataract, Corneal opacity, Vaginal neoplasm, Acute lymphoblastic le... |
ORPHA:1052 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Cataract, Cryptorchidism, Microcornea, Bone marrow hypocellularity,... |
ORPHA:2308 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cataract, Sclerocornea, Renal hyp... |
ORPHA:818 |
Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Renal cyst |
OMIM:615560 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Cryptorchidism, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst |
OMIM:617260 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypothyroidis... |
ORPHA:797 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormality of the kidney, Py... |
ORPHA:2036 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Attention deficit hyperactivity disorder |
ORPHA:261197 |
Proteus Syndrome |
|
Thymus hyperplasia, Cataract, Central heterochromia, Testicular neoplasm, Enlarged polycystic ova... |
ORPHA:744 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Nephroblastoma, Myeloid leukemia, Abnormality of the ureter, Nephrolit... |
ORPHA:798 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Transient neutropenia, Chronic neutrop... |
ORPHA:500095 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Cataract, Hypospadias, Splenomegaly, Multiple renal cysts, Delayed puberty, Iris co... |
ORPHA:955 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Renal... |
ORPHA:709 |
Williams Syndrome |
|
Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi... |
ORPHA:904 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pa... |
ORPHA:2750 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, External... |
ORPHA:97360 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Re... |
ORPHA:2052 |
Trisomy 10P |
|
Absent gallbladder, Multiple renal cysts, Rectovaginal fistula, Abnormality of the kidney |
ORPHA:171929 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorc... |
ORPHA:1596 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Cataract, Cr... |
ORPHA:199 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Opacification of the corneal stroma, Mic... |
OMIM:615287 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cataract, Renal cyst |
OMIM:272460 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Supernumerary nipple, Cryptorchidism, Splenomegaly, Renal cyst, Duplic... |
OMIM:312870 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypoplastic female external ge... |
ORPHA:1507 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice... |
ORPHA:3310 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... |
OMIM:107480 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
Branchiooculofacial Syndrome |
|
Cataract, Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Ectopic ... |
OMIM:113620 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Abnormal pupil morphology, Microcornea, Vesicouret... |
ORPHA:261552 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl... |
OMIM:606170 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Keratitis, ... |
OMIM:308205 |
C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... |
ORPHA:1308 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Septate... |
ORPHA:261537 |
Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Septate... |
ORPHA:2152 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Cataract, Hypogonadotropic hypogonadism, Proteinuria, Elevated cir... |
ORPHA:79318 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia |
OMIM:300373 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplast... |
OMIM:601803 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Limbal dermoid, Vesicoureteral refl... |
OMIM:164210 |