Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Pheochromocytoma/Paraganglioma Syndrome 5 |
|
Paraganglioma |
OMIM:614165 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Pheochromocytoma/Paraganglioma Syndrome 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Carcinoid Tumors, Intestinal |
|
Intestinal carcinoid |
OMIM:114900 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas |
|
Cutaneous angiolipomas, Retroperitoneal chemodectomas, Chemodectoma |
OMIM:118350 |
Schwannomatosis 2 |
|
Schwannoma, Spinal cord tumor |
OMIM:615670 |
Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma |
OMIM:606864 |
Thyroid Carcinoma, Familial Medullary |
|
Medullary thyroid carcinoma |
OMIM:155240 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro... |
OMIM:607641 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma, Spinal cord tumor, Meningioma |
OMIM:162091 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas... |
ORPHA:2578 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Pelvic Lipomatosis With Crossed Renal Ectopia |
|
Ectopic kidney |
OMIM:169545 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis |
OMIM:268650 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... |
OMIM:160980 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism |
OMIM:617564 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... |
OMIM:171400 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Seckel Syndrome 8 |
|
Ectopic kidney |
OMIM:615807 |
Schizophrenia 1 |
|
Partially duplicated kidney, Renal agenesis, Ectopic kidney |
OMIM:181510 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... |
OMIM:601076 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Enterocolitis |
OMIM:142623 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... |
ORPHA:1201 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Neoplasm of the lung, Pheochromocyt... |
ORPHA:1332 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Hypoperistalsis,... |
OMIM:611376 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... |
ORPHA:48 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism, Renal agenesis |
OMIM:219050 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Neoplasm of head and neck, Goiter, Breast carcinoma, Papillary renal cell carcinoma, Papillary th... |
ORPHA:97290 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Chemodectoma, Glomus jugular tumor, Neoplasm |
OMIM:601650 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,... |
ORPHA:411709 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
7P22.1 Microduplication Syndrome |
|
Cryptorchidism, Abnormality of the kidney |
ORPHA:314034 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Oligohydramnios |
OMIM:274265 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Macdermot-Winter Syndrome |
|
Hydronephrosis, Hypoplastic male external genitalia |
OMIM:247990 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrono... |
ORPHA:3156 |
X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon |
ORPHA:1497 |
Intellectual Developmental Disorder, X-Linked 99 |
|
Hypospadias, Ectopic kidney |
OMIM:300919 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Renal Tubular Dysgenesis |
|
Premature birth, Polyhydramnios, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia... |
ORPHA:3033 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Seckel Syndrome 2 |
|
Hypospadias, Ectopic kidney |
OMIM:606744 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Abnormality of the ur... |
ORPHA:1046 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C... |
ORPHA:3027 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillar... |
ORPHA:319487 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Patent ductus arteriosus, Renal hypoplasia, Hyp... |
OMIM:615996 |
Frasier Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... |
OMIM:136680 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypoperistalsis, Abdominal ... |
OMIM:619365 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Pulmonary hypoplasia, Renal... |
ORPHA:3032 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... |
OMIM:611067 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M... |
ORPHA:347 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Ectopic kidney |
ORPHA:401935 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ... |
OMIM:615382 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Crossed fused renal ectopia, Horseshoe kidney |
ORPHA:2213 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles |
OMIM:614373 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Premature birth, Hydrops fetalis, Oligohydramn... |
ORPHA:1909 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, External genital hypoplasia |
OMIM:600151 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... |
OMIM:617641 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Joubert Syndrome 15 |
|
Ambiguous genitalia, Micropenis, Nephronophthisis |
OMIM:614464 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum |
ORPHA:2256 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death... |
OMIM:236500 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg... |
ORPHA:388 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech... |
OMIM:617914 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98797 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonado... |
ORPHA:652 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Cryptorchidism, Renal hypoplasia, Vesicoure... |
ORPHA:85284 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Multicystic kidney dysplasia, Hydroureter, Abnormality of ... |
ORPHA:2241 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Oligohydramnios, Renal hypoplasia/aplasia |
ORPHA:3316 |
Short Stature, Brussels Type |
|
Horseshoe kidney |
ORPHA:2867 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Abn... |
ORPHA:93929 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr... |
OMIM:617575 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... |
ORPHA:3109 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon |
OMIM:619465 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormali... |
ORPHA:2470 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Unilateral renal agenesis, Patent ductus arteriosus, Ambiguous genit... |
OMIM:618142 |
Mosaic Variegated Aneuploidy Syndrome 3 |
|
Nephroblastoma, Horseshoe kidney |
OMIM:617598 |
Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Renal interstitial fibrosis, Nephronopht... |
OMIM:616217 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina... |
OMIM:616258 |
Orthostatic Intolerance |
|
Elevated urinary norepinephrine level, Orthostatic tachycardia |
OMIM:604715 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis, Decreased response to growth... |
OMIM:618347 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney |
OMIM:239800 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Distal am... |
OMIM:253400 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:253550 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Abcd Syndrome |
|
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... |
OMIM:600501 |
Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
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 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Aganglionic megacol... |
ORPHA:653 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Fetal Encasement Syndrome |
|
Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney |
OMIM:613630 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria |
OMIM:606824 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Proximal amyotrophy |
OMIM:608030 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Congenital posterior urethral valve, Hydro... |
OMIM:100100 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia |
OMIM:617926 |
Even-Plus Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia |
OMIM:616854 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Pseudohypoparathyroidism |
ORPHA:464288 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... |
ORPHA:2842 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... |
OMIM:613390 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... |
ORPHA:93111 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia |
ORPHA:3239 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis |
ORPHA:85274 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Roifman-Chitayat Syndrome |
|
Ectopic kidney |
OMIM:613328 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, Hydronephrosis |
OMIM:618578 |
Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disease, Renal hypo... |
OMIM:614376 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia, Oligohydramnios |
OMIM:615397 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Hypospadias, Renal cyst |
OMIM:231060 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Cowden Syndrome 7 |
|
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... |
OMIM:616858 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Feeding difficulties, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Rena... |
OMIM:616733 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Gonadal dysgenesis, Hypo... |
OMIM:154230 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Trisomy X |
|
Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia |
ORPHA:3375 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... |
ORPHA:276399 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology |
OMIM:251850 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphoma, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
Hao-Fountain Syndrome |
|
Cryptorchidism, Micropenis |
OMIM:616863 |
Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyro... |
OMIM:162300 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Juberg-Hayward Syndrome |
|
Decreased response to growth hormone stimulation test, Horseshoe kidney |
OMIM:216100 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pelvic kidney, Horseshoe kidney |
OMIM:613951 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Abnormal autonomic ner... |
ORPHA:314652 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616437 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Primary amenorrhea, Adrenogenital syndrome |
OMIM:202110 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill... |
ORPHA:2290 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Neoplasm of the lung, Malignant neoplasm of the central nervous ... |
ORPHA:142 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial ... |
ORPHA:140952 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Intestinal malrotation, Oligohydramnios, Fetal megacystis, Generalized edema |
OMIM:249210 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Unilateral renal hypoplasia |
OMIM:619955 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal ... |
ORPHA:85321 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E... |
OMIM:227650 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Horseshoe kidney |
OMIM:619318 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619141 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... |
ORPHA:1018 |
Cach Syndrome |
|
Decreased fetal movement, Optic atrophy, Renal hypoplasia, Feeding difficulties, Vomiting, Dyspha... |
ORPHA:135 |
Axial Mesodermal Dysplasia Spectrum |
|
Premature birth, Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoe... |
ORPHA:1834 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Thyroid dysgenesis, Decreased testicular size, Hydroureter, Decreased response t... |
OMIM:146510 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... |
OMIM:600057 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Bicornuate uterus, A... |
ORPHA:2438 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry... |
OMIM:600901 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... |
OMIM:180860 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis |
OMIM:615989 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:603467 |
Fanconi Anemia, Complementation Group U |
|
Patent ductus arteriosus, Ectopic kidney |
OMIM:617247 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Renal hypoplasia |
OMIM:616817 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Decreased response to growth hormone stimulation test |
OMIM:617784 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Stillbirth, Anal atresia |
OMIM:276950 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon |
OMIM:613265 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cranial nerve compression, Adrenal... |
ORPHA:276621 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia |
OMIM:221350 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Abnormal morphology o... |
ORPHA:1926 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Cryptorchidism, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system |
ORPHA:1621 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:614808 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Horseshoe kidney |
OMIM:617352 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re... |
OMIM:613680 |
Burn-Mckeown Syndrome |
|
Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydr... |
OMIM:619362 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... |
OMIM:300707 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Nephrotic syndrome, Focal s... |
OMIM:607426 |
Athyreosis |
|
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipation |
ORPHA:95713 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv... |
ORPHA:65684 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Oligohydramnios, Abnormality of the upper urinary tract, Aplasia/Hypo... |
ORPHA:2145 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis |
OMIM:616541 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular epithelial nec... |
ORPHA:49041 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
High palate, Hydrocephalus, Aganglionic megacolon |
OMIM:304100 |
Bardet-Biedl Syndrome 21 |
|
Horseshoe kidney |
OMIM:617406 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
ORPHA:929 |
Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Micropenis, Pachygyria, Agyria |
OMIM:300067 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus... |
ORPHA:1756 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Patent ductus arteriosus, Hypospadias, Horseshoe kidney |
OMIM:218350 |
Rhyns Syndrome |
|
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... |
OMIM:602152 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Ambiguous genitalia |
ORPHA:452 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cranial... |
ORPHA:29072 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia |
OMIM:614922 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi... |
OMIM:609053 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... |
OMIM:258040 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Optic atrophy, Simplified gyral pattern, Bronchiectasis, Feeding difficulties, Aspir... |
OMIM:618253 |
Urban-Rogers-Meyer Syndrome |
|
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Fanconi Anemia, Complementation Group R |
|
Pelvic kidney |
OMIM:617244 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary, Renal hypoplasia |
ORPHA:75389 |
Primary Pulmonary Hypoplasia |
|
Ureteral stenosis |
ORPHA:2257 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, ... |
OMIM:601186 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Isolated Atp Synthase Deficiency |
|
3-Methylglutaconic aciduria, Hypogonadism, Renal hypoplasia |
ORPHA:254913 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis |
OMIM:618504 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Horseshoe kidney... |
ORPHA:3097 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Ssr4-Cdg |
|
Patent ductus arteriosus, Horseshoe kidney |
ORPHA:370927 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Laryngeal Neuroendocrine Tumor |
|
Neoplasm of the larynx, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated c... |
ORPHA:100083 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Basal ce... |
ORPHA:2874 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Urinary incontinence, Optic atrophy, Achalasia, Decreased sen... |
OMIM:609033 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Abdominal distention, Optic disc coloboma, Secretor... |
OMIM:270420 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction |
ORPHA:160 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma |
OMIM:171420 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:617892 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Subcutaneous lipoma, Thyroiditis, Breast carcinoma, Hamartomatous polyposis, Ova... |
OMIM:615108 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu... |
ORPHA:2547 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... |
OMIM:609757 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney dis... |
ORPHA:261222 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hypoplastic labia majora, Hydronephrosis |
OMIM:619217 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:244200 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98798 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, ... |
OMIM:615109 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry... |
OMIM:227645 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Short stature, Proteinuria, Abnormality of the kidney, Hepatocellular carcinoma, Abdominal disten... |
ORPHA:369 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Cryptorchidism, Horseshoe kidney, Hypoplastic male external genitalia |
ORPHA:502434 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... |
OMIM:140000 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Dysphagia |
OMIM:615750 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Growth delay, Steatorr... |
ORPHA:75233 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon |
ORPHA:2885 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis |
OMIM:615630 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit... |
OMIM:617595 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting |
OMIM:615863 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
OMIM:235510 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Testicular atrophy, Hydronephrosis |
OMIM:222300 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cryptorchidism, Abnormality of the urinary system, Ureteral stenosis |
ORPHA:2719 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon |
ORPHA:895 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Horseshoe kidney |
ORPHA:101003 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Cryptorchidism |
OMIM:615633 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of... |
ORPHA:139466 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Renal duplication, Ectopic kidney |
OMIM:613309 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry... |
OMIM:227646 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Micropenis, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Congenital Central Hypoventilation Syndrome |
|
Abnormality of the autonomic nervous system, Aganglionic megacolon |
ORPHA:661 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Polyhydramnios, Abnormal lung lobation, Pulmonary hypoplasia, Polycys... |
OMIM:263210 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Acces Syndrome |
|
Supernumerary nipple, Horseshoe kidney |
OMIM:619959 |
Thyroid Hemiagenesis |
|
Growth delay, Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... |
OMIM:122470 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:617660 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Paucity of a... |
OMIM:611890 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, ... |
OMIM:158350 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, A... |
ORPHA:93930 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis |
ORPHA:2083 |
Joubert Syndrome 37 |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:619185 |
Alpha-Heavy Chain Disease |
|
Growth delay, Abnormal small intestine morphology, Abdominal pain, Malabsorption |
ORPHA:100025 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... |
ORPHA:752 |
Trisomy 13 |
|
Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Displa... |
ORPHA:3378 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell car... |
ORPHA:2869 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... |
ORPHA:49 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... |
OMIM:263200 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc... |
ORPHA:567546 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Dehydration, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Lissencep... |
OMIM:208085 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Recurrent respiratory infections, Recurrent urinary tract infections,... |
OMIM:609029 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Nonimmu... |
OMIM:617667 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Dermotrichic Syndrome |
|
Aminoaciduria, Aganglionic megacolon, Proportionate short stature |
ORPHA:99688 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism |
ORPHA:2022 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Marden-Walker Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Renal hypoplasia |
OMIM:248700 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:105400 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:250994 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Facial palsy, Sali... |
ORPHA:79493 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Decreased motor nerve conduction velocity, Small intes... |
ORPHA:298 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Retinitis Pigmentosa 59 |
|
Cryptorchidism, Renal insufficiency, Micropenis |
OMIM:613861 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology |
ORPHA:79243 |
Juberg-Hayward Syndrome |
|
Hypospadias, Horseshoe kidney |
ORPHA:2319 |
Oliver-Mcfarlane Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth ... |
OMIM:275400 |
Cenani-Lenz Syndrome |
|
Crossed fused renal ectopia, Renal hypoplasia/aplasia |
ORPHA:3258 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia |
OMIM:618914 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro... |
ORPHA:30 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Increased nuchal translucency, Nephroblastomatosis, Horseshoe kidney, Pulmonary... |
OMIM:608022 |
Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
OMIM:179613 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... |
OMIM:236700 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate |
ORPHA:66629 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon |
ORPHA:2151 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Hydronephrosis |
ORPHA:531151 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis |
OMIM:616239 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis |
OMIM:264600 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon |
OMIM:277580 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydroneph... |
OMIM:618653 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Horseshoe kidney |
OMIM:300860 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m... |
ORPHA:897 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Oligo... |
ORPHA:2795 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp... |
ORPHA:2237 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Piebald Trait |
|
Aganglionic megacolon |
OMIM:172800 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Oligohydramnios |
OMIM:620135 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Triple A Syndrome |
|
Achalasia, Optic atrophy |
ORPHA:869 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Congenital... |
ORPHA:261344 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia, Pachygyria, Perisylvian polymicrogyria, Lissenceph... |
ORPHA:171680 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Horseshoe kidney |
OMIM:617664 |
Pheochromocytoma |
|
Hemangioma, Neoplasm, Pheochromocytoma |
OMIM:171300 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Abnormality of the kidney, Hypoperistalsis, Abnormal l... |
ORPHA:167635 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Decreased fertility, Breast aplasia, Abnor... |
ORPHA:3138 |
Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Ureteral obstruction |
OMIM:304150 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hypospadias, Abnormality of the kidney, 3-Methylglutaconic aciduria, Oligohydra... |
ORPHA:1194 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr... |
OMIM:269150 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis |
OMIM:300982 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Horseshoe kidney, Vesicoureteral... |
OMIM:619103 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis |
OMIM:264480 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232200 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Urethral stricture, Renal dysplasia, Renal duplication, Abdominal distention... |
ORPHA:79403 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarboxylic aciduria, Fe... |
OMIM:608836 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Patent ductus arteriosus, Dilatation of t... |
ORPHA:314588 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Campomelia, Cumming Type |
|
Death in infancy, Multicystic kidney dysplasia, Lymphedema, Hydrops fetalis, Multiple renal cysts... |
ORPHA:1318 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Focal... |
OMIM:242900 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Cystic renal dysplasia, Enlarged kidney... |
OMIM:615415 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... |
ORPHA:1988 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Patent ductus arteriosus, Nephrotic syndrome, Focal segmental glomerulosclerosis, Re... |
OMIM:617303 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... |
ORPHA:363444 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Braddock Syndrome |
|
Unilateral renal agenesis |
ORPHA:52047 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:105550 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Premature birth, Miscarriage, Respiratory infections in early l... |
ORPHA:96179 |
Tarp Syndrome |
|
Meckel diverticulum, Optic atrophy, Horseshoe kidney, Premature rupture of membranes, Neonatal de... |
OMIM:311900 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia |
ORPHA:3386 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Patent ductus arteriosus, Annular p... |
ORPHA:96149 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... |
OMIM:618460 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Hypogonadi... |
ORPHA:96170 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Cryptorchidism, Micropenis, Hypogonadism, Decreased response to growth hormone stimulation test |
ORPHA:3363 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Patent ur... |
OMIM:192350 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
Glycogen Storage Disease Ib |
|
Proteinuria, Pancreatic fibrosis, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased ... |
OMIM:232220 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Pos... |
ORPHA:464311 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Renal cyst, Cleft palate, Intrau... |
OMIM:603194 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis |
ORPHA:3306 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hepatic failure, Hydronephrosis, Oli... |
OMIM:619431 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Vomiting... |
OMIM:602579 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Tetrasomy 18P |
|
Achalasia |
ORPHA:3307 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
Dystonia-Deafness Syndrome 1 |
|
Achalasia, Pseudobulbar paralysis, Dysphagia |
OMIM:607371 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Mehmo Syndrome |
|
Cryptorchidism, Hypoplasia of penis, External genital hypoplasia, Micropenis |
ORPHA:85282 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver function, N... |
OMIM:608104 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... |
ORPHA:2437 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, ... |
OMIM:618454 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis |
OMIM:616362 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Cryptorchidism, Abnormality of the ureter, Hypospadias, Abnormal morphology of female internal ge... |
ORPHA:2311 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, 3-Methylglutaric aciduria |
OMIM:250951 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
OMIM:620327 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Prostatitis, Hydr... |
ORPHA:900 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia |
ORPHA:2919 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... |
ORPHA:52430 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Anhydramnios, Bilateral renal agenesis, Pulmonary hypoplasia, Renal dysplasia, Oligo... |
OMIM:191830 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney |
ORPHA:268249 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism |
ORPHA:2377 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Chronic mye... |
ORPHA:636 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy |
OMIM:215470 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... |
ORPHA:2059 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Perinea... |
ORPHA:2538 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Proteinuria |
ORPHA:247691 |
1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, Horseshoe kidney |
ORPHA:238769 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormality of the kidney, Polyhydramnios, Fetal ascites, Abnormal stomach m... |
ORPHA:141127 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism |
ORPHA:1192 |
Familial Visceral Myopathy |
|
Hydroureter, Aganglionic megacolon, Abdominal distention, Megacystis, Cleft palate, Vesicouretera... |
ORPHA:2604 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Aplasia of the bla... |
OMIM:612284 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureter... |
ORPHA:959 |
Haddad Syndrome |
|
Decreased fetal movement, Death in infancy, Aganglionic megacolon, Polyhydramnios, Gastroesophage... |
ORPHA:99803 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
3Mc Syndrome 3 |
|
Bifid scrotum, Cryptorchidism, Horseshoe kidney, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Esophageal stricture, Chronic diarrhea, Patent d... |
OMIM:617053 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ... |
ORPHA:857 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Patent ductus arteriosus, Midshaft hypospadias, Anterio... |
ORPHA:2863 |
Noonan Syndrome 9 |
|
Cryptorchidism, Hydroureter |
OMIM:616559 |
Diphallia |
|
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista... |
ORPHA:227 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Patent duc... |
ORPHA:464306 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:208540 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Shawl s... |
OMIM:617516 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Neph... |
ORPHA:35710 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis, Decreased response to growth hormone stimulation test |
OMIM:220210 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... |
ORPHA:276152 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Silver-Russell Syndrome 3 |
|
Patent ductus arteriosus, Feeding difficulties, Penoscrotal hypospadias, Oligohydramnios |
OMIM:616489 |
Suleiman-El-Hattab Syndrome |
|
Cryptorchidism, Hydronephrosis |
OMIM:618950 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Pelvic kidney |
OMIM:247200 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis, Cryptorchidism |
OMIM:610733 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:612626 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Specc1L-Related Hypertelorism Syndrome |
|
Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Shawl scrotum, Female pseudohermaphrodi... |
ORPHA:1519 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C... |
ORPHA:2510 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, I... |
ORPHA:100924 |
Tyrosinemia, Type I |
|
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... |
OMIM:276700 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia |
ORPHA:436174 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Aganglionic megacolon, Renal hypoplasia/aplasia |
ORPHA:1438 |
Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis |
OMIM:614900 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... |
OMIM:246700 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abnormality of the ureter, Ovarian cyst, Bladder polyp, Precocious pube... |
OMIM:175200 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Spina bifida, Polyhydramnios, Paten... |
ORPHA:99776 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Ureteral triplication, Hydronephrosis, Absent nipple |
OMIM:104350 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Trac... |
ORPHA:59315 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia |
OMIM:257100 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Hypospadias |
OMIM:101805 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Patent ductus arteriosus, Fetal pericardial effusion, Hematuria, Decre... |
OMIM:617021 |
Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Bile duct proliferation |
OMIM:607361 |
Intellectual Disability, Wolff Type |
|
Cryptorchidism, Hypospadias |
ORPHA:3080 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Achalasia, Dysphagia |
ORPHA:289483 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Severe short stature, Short stature, Abdominal distention, Disproportionate short-trunk short sta... |
OMIM:277300 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft... |
OMIM:174300 |
Abruzzo-Erickson Syndrome |
|
Coronal hypospadias, Hypospadias, Abnormal localization of kidney, Cryptorchidism |
ORPHA:921 |
Birk-Aharoni Syndrome |
|
Duplicated collecting system, Cryptorchidism, Micropenis |
OMIM:620071 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph... |
ORPHA:210122 |
Joubert Syndrome 2 |
|
Hypoplastic male external genitalia, Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreati... |
ORPHA:892 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Oligohydramnios, Single umbilical artery, Hydronephrosis, Gastrostomy tube... |
ORPHA:247262 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypospadias, Feeding difficulties in infancy, Microphallus, Small placenta, Oligohydramnios |
ORPHA:397590 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:1381 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... |
ORPHA:79327 |
Trisomy 4P |
|
Cryptorchidism, Hypospadias |
ORPHA:1738 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... |
ORPHA:97685 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Optic atrophy, Feeding difficulties, Pleural effusion, Ascites, Oligohydram... |
OMIM:614702 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... |
ORPHA:2075 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Renotubular dysgenesis, Oligohyd... |
OMIM:267430 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Micropenis, Hypoplasia of the prostate |
OMIM:301900 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper... |
OMIM:308700 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Rauch-Steindl Syndrome |
|
Hyperechogenic kidneys, Bilateral renal hypoplasia |
OMIM:619695 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:301830 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Ambiguous genitalia |
OMIM:616300 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Achalasia, Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension |
OMIM:231550 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal renal morphology, Abnormality of the ureter, Abnormal reproductiv... |
ORPHA:1666 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Methylmalonic aciduria, Oligohydramnios |
OMIM:615578 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Breech presentation, Vomiting, Proximal renal tubular acidosis, Oligohydramnios |
OMIM:615824 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Polyhydramnios, Epispadias, Abnorm... |
ORPHA:3339 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn... |
ORPHA:261290 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer |
OMIM:613244 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia majora, Bi... |
OMIM:263650 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Faciocardiorenal Syndrome |
|
Horseshoe kidney |
ORPHA:1973 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal amyotrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy |
OMIM:608627 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:364028 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Premature birth, Gastroparesis, 3-Methylglutaconic aciduria, Death in childhood, Neo... |
OMIM:614052 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts |
ORPHA:400 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
ORPHA:457193 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypoplastic nipples, Micropenis |
OMIM:615546 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Imperforat... |
OMIM:619522 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Umbilical hernia, Decreased fetal movement, Oligohydramnios |
ORPHA:231144 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy |
ORPHA:85201 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperechogenic kidneys, Proximal tubulopathy, Unilateral renal agenesis |
OMIM:614576 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis, Renal d... |
ORPHA:96169 |
Alagille Syndrome |
|
Cryptorchidism, Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:52 |
Mosaic Trisomy 14 |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:1703 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Renal hypoplasia |
ORPHA:314679 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:618815 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Micropenis, Abnormal optic disc morphology, Feeding difficulties, Oligohydramnios |
ORPHA:293967 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Patent ductus arteriosus, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... |
OMIM:314300 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Dysphagia |
ORPHA:79107 |
Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Patent ductus arteriosus, Horseshoe kidney |
OMIM:612562 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth, Neonatal short-limb short stature |
OMIM:600972 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus arteriosus, Hydro... |
OMIM:614080 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Gast... |
ORPHA:85443 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Proximal Xq28 Duplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:1762 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Wagr Syndrome |
|
Ambiguous genitalia, Displacement of the urethral meatus, Cryptorchidism |
ORPHA:893 |
Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Aplasia of the uterus, Abnormality of the kidney, Horseshoe kidney |
ORPHA:3320 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Bladder diverticulum, Umbilical hernia, Emphysema, Oligohydramnios |
OMIM:219100 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormality of the kidney, Recur... |
ORPHA:847 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
Congenital Heart Block |
|
Premature birth, Pericardial effusion, Feeding difficulties in infancy, Patent ductus arteriosus,... |
ORPHA:60041 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Fabry Disease |
|
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Lymphedema, Abdo... |
ORPHA:324 |
Autosomal Recessive Amelia |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:1027 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of ... |
ORPHA:201 |
Pontocerebellar Hypoplasia, Type 1D |
|
Decreased fetal movement, Recurrent respiratory infections, Oral-pharyngeal dysphagia, Feeding di... |
OMIM:618065 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormal vagina morphology, Abnormality of the female genitalia... |
ORPHA:2315 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Micropenis |
OMIM:202150 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Abnormal renal collecting s... |
ORPHA:468631 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Feeding difficulties, Esophagitis, Hepatic failure, Hydronephrosis,... |
ORPHA:541423 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Abdominal distention, Increased nuchal translucency, Pneumothorax, Pulmo... |
OMIM:619879 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Micropenis |
OMIM:619180 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy |
ORPHA:912 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Urinary incontinence, Feeding difficulties, Chronic constipation, G... |
OMIM:619482 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Ventral shortening of foreskin, Cryptorchidism, Urethral diverticulum, Displacemen... |
ORPHA:95706 |
Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Facial palsy, Carcinoid tumor |
ORPHA:100084 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
Duane Retraction Syndrome |
|
Ectopic kidney |
ORPHA:233 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Currarino Syndrome |
|
Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Peri... |
OMIM:176450 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Increased circu... |
ORPHA:90790 |
Lethal Congenital Contracture Syndrome 8 |
|
Neonatal death, Facial diplegia, Death in infancy, Oral-pharyngeal dysphagia |
OMIM:616287 |
Myopathy, Centronuclear, 2 |
|
Feeding difficulties in infancy, Decreased fetal movement, Facial palsy, Oligohydramnios |
OMIM:255200 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:300997 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Feeding difficulties, Chronic constipation, Abnormal autonomic nervous sys... |
OMIM:209880 |
Cerebrocostomandibular Syndrome |
|
Patent ductus arteriosus, Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Abdominal distention, Hypercalciuria, Generalized aminoaciduria, Growth delay,... |
ORPHA:2088 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Optic atrophy, Feed... |
OMIM:251300 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Malabsorption, Postnatal growth retarda... |
OMIM:227810 |
X-Linked Creatine Transporter Deficiency |
|
Constipation, Ileus, Aganglionic megacolon, Short stature |
ORPHA:52503 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Hyd... |
OMIM:301056 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Renal hypoplasia |
OMIM:601390 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... |
ORPHA:525731 |
14Q22Q23 Microdeletion Syndrome |
|
Cryptorchidism, Small scrotum, Renal hypoplasia, Anterior pituitary hypoplasia |
ORPHA:264200 |
Acrocephalopolydactyly |
|
Abnormal renal morphology, Protuberant abdomen |
ORPHA:221054 |
Mend Syndrome |
|
Cryptorchidism, Crossed fused renal ectopia |
OMIM:300960 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618840 |
Freeman-Sheldon Syndrome |
|
Feeding difficulties in infancy, Prenatal movement abnormality, Polyhydramnios, Oligohydramnios |
ORPHA:2053 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Premature birth, Edema, Diarrhea, Optic atrophy, Hydro... |
ORPHA:79325 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Renal hypoplasia |
ORPHA:37553 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Decreased testicular size |
ORPHA:96061 |
Igg4-Related Aortitis |
|
Hydronephrosis |
ORPHA:449400 |
Smith-Magenis Syndrome |
|
Precocious puberty, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/... |
ORPHA:819 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon |
OMIM:148820 |
Branchioskeletogenital Syndrome |
|
Ureteral stenosis, Absent nipple, Absent external genitalia, Micropenis, Bladder exstrophy, Penos... |
ORPHA:1299 |
Zaki Syndrome |
|
Patent ductus arteriosus, Renal agenesis, Hydronephrosis |
OMIM:619648 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... |
OMIM:610628 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Abnormality of the uterus... |
ORPHA:1655 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
Hennekam Syndrome |
|
Horseshoe kidney, Ectopic kidney |
ORPHA:2136 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:619227 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias |
OMIM:616910 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... |
OMIM:620189 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary artery stenosis, Bilateral lung... |
OMIM:611812 |
Transketolase Deficiency |
|
Secondary amenorrhea, Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst |
ORPHA:488618 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Micropenis |
OMIM:619189 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... |
ORPHA:391641 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis |
OMIM:619951 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
Vici Syndrome |
|
Recurrent respiratory infections, Death in infancy, Feeding difficulties in infancy, Optic atroph... |
ORPHA:1493 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Cryptorchidism, Hydronephrosis, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:612513 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Abdominal distention, Peritonitis, Patent ductus arteriosus, Megacystis, P... |
OMIM:619351 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Dilatation of renal calices, Pelvic kidney |
ORPHA:466950 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Breech presentation, Decreased fetal movement, Feeding difficulties, Oligohydramnios |
ORPHA:1143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Decreased fetal movement, Feeding difficulties, Oligohydramnios |
OMIM:615350 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl... |
ORPHA:2911 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis |
OMIM:612702 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hypogonadism, Small scrotum, Abnormality of the ureter |
ORPHA:3253 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena... |
ORPHA:261494 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... |
ORPHA:83628 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Generalized amyotrophy, Abnormal upper motor neuron morph... |
ORPHA:275872 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypercalciuri... |
OMIM:614732 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Adams-Oliver Syndrome 2 |
|
Decreased fetal movement, Polymicrogyria, Optic atrophy, Oligohydramnios |
OMIM:614219 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Cleft palate, Growth delay, Vesicoureteral reflux, Anal atr... |
OMIM:614749 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
Chops Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Patent ductus arteriosus, Horseshoe kidney |
OMIM:616368 |
Shashi-Pena Syndrome |
|
Unilateral renal agenesis |
OMIM:617190 |
Stt3A-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370921 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Abdominal pa... |
ORPHA:79276 |
Pancreatic Colipase Deficiency |
|
Growth delay, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Micropenis, Hypoplasia of the ovary, Renal hypoplasia |
OMIM:619321 |
Non-Distal Duplication 10Q |
|
Cryptorchidism, Abnormality of the urinary system |
ORPHA:1695 |
Carpenter Syndrome 1 |
|
Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Patent ductus arter... |
OMIM:201000 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370924 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Nephroblastoma |
ORPHA:2128 |
Lead Poisoning |
|
Anorexia, Abdominal pain, Abdominal distention, Chronic kidney disease, Renal tubular dysfunction... |
ORPHA:330015 |
Analbuminemia |
|
Patent ductus arteriosus, Recurrent lower respiratory tract infections, Edema, Oligohydramnios |
OMIM:616000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency |
OMIM:615952 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney |
ORPHA:508498 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... |
ORPHA:2070 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Renal hypopla... |
OMIM:135900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:2772 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:617798 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Recurrent inf... |
ORPHA:51890 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Severe short stature |
OMIM:619345 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Small scrotum |
OMIM:615597 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto... |
ORPHA:289 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Pelvic kidney |
ORPHA:466943 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida, Aganglionic megacolon, Cleft palate |
ORPHA:894 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Micropenis |
ORPHA:370968 |
Short-Rib Thoracic Dysplasia 12 |
|
Patent ductus arteriosus, Renal hypoplasia, Hypoplastic nipples, Ambiguous genitalia, Cystic rena... |
OMIM:269860 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia... |
ORPHA:3440 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum |
OMIM:615433 |
Acrocallosal Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:36 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:99880 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis, Decreased liver function, Oligohydramnios |
OMIM:617093 |
Cat Eye Syndrome |
|
Renal agenesis, Patent ductus arteriosus, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
OMIM:115470 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Hypoplasia of the bladder, Decreased fetal movement, Villous atrophy,... |
ORPHA:79328 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chroni... |
OMIM:267010 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... |
ORPHA:1359 |
Thyroid Hypoplasia |
|
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation |
ORPHA:95720 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of L-fucose in urine |
OMIM:215600 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis |
OMIM:619179 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Achalasia, Gastroesophageal reflux, Feeding difficulties |
OMIM:600987 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Abdomina... |
ORPHA:93552 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Chronic constipation, Abdominal distention |
ORPHA:3010 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness |
ORPHA:2590 |
Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Abnormality of neuronal migration, Polymicro... |
ORPHA:475 |
Mody |
|
Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Pancreatic hypoplasia |
ORPHA:552 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Postnatal growth retardation, Renal cyst, Steatorrhea, Fat malabsorption, Hepatic fai... |
ORPHA:79303 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Perlman Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Abnormal pancreas morphology, Nephroblastoma |
ORPHA:2849 |
3Q29 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hypospadias, Horseshoe kidney |
ORPHA:65286 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Abdominal pain, Celiac disease, Postnatal growth retardation, Abdominal distention... |
OMIM:212750 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer... |
OMIM:232240 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Clitoral hy... |
OMIM:214110 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladde... |
OMIM:200980 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:143 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
ORPHA:250989 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Methylmalonic aciduria, Unilateral renal agenesis |
ORPHA:79284 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Cog5-Cdg |
|
Neurogenic bladder, Urinary incontinence, Oligohydramnios, Micropenis, Gastrostomy tube feeding i... |
ORPHA:263487 |
Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder |
OMIM:263570 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Cerebral edema, Oligohydramnios |
OMIM:617713 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Decreased fetal movement, Fetal pyelectasis, Gastrostomy tube feeding in infancy, Oligohydramnios |
OMIM:616900 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia |
ORPHA:3301 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Polymicrogyria |
ORPHA:220497 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the ... |
ORPHA:96092 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma, Protuberant abdomen |
OMIM:618272 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon, Abnormality of neuronal migration |
ORPHA:2318 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea |
OMIM:618841 |
Miller-Dieker Syndrome |
|
Nephropathy, Lissencephaly, Polyhydramnios |
ORPHA:531 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the ute... |
ORPHA:672 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Micropenis |
OMIM:614684 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Bifid scrotum, Small scrotum, H... |
OMIM:270400 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolo... |
OMIM:229850 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormal lower motor ... |
OMIM:205100 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Premature birth, Increased nuchal translucency, Fetal intraventricular hemorrhage, Constipation, ... |
OMIM:618480 |
3Mc Syndrome 2 |
|
Cryptorchidism, Hypospadias, Horseshoe kidney |
OMIM:265050 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention, Optic atrophy |
ORPHA:79097 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Feeding difficulties in infancy, Renal... |
OMIM:257300 |
Melas |
|
Hypoparathyroidism, Proteinuria, Hypogonadotropic hypogonadism, Focal segmental glomerulosclerosi... |
ORPHA:550 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Renal hypoplasia/aplasia, Decreased fertility, Narrow p... |
ORPHA:870 |
Kinsship Syndrome |
|
Renal hypoplasia, Horseshoe kidney |
OMIM:619297 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia |
ORPHA:93328 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology |
ORPHA:85451 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Micropenis, Hydronephrosis, Pancreatic lymphangiectasis |
OMIM:235255 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis, Clitoral hypertrophy |
OMIM:616449 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Abnormal renal morphology, Cleft palate, Feeding difficulties, Anteriorly ... |
OMIM:239300 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Renal agenesis, Cyst... |
OMIM:220500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Arthrogryposis, Distal, Type 2A |
|
Recurrent respiratory infections, Decreased fetal movement, Polyhydramnios, Abnormal auditory evo... |
OMIM:193700 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia |
ORPHA:171719 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Premature thelarche, Cryptorchidism, Micropenis, Anoperineal fistula... |
OMIM:147920 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Hypospadias, Oligohydramnios |
ORPHA:261311 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydrone... |
ORPHA:2953 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy, Organic aciduria |
OMIM:617184 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Dysphagia, Achalasia |
OMIM:615510 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... |
OMIM:608800 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Urethral atresia, Single umbilical artery, Pulmonary hypoplasia, Hydronephr... |
OMIM:271520 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Hydronephrosis |
OMIM:611209 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication, Endometrial carcinoma |
ORPHA:457212 |
Cystic Fibrosis |
|
Absent vas deferens, Nephrolithiasis |
ORPHA:586 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
White-Kernohan Syndrome |
|
Hydroureter, Rectovaginal fistula, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Spontaneous chorioamniotic separation, Decreased fetal movement, Hypospadia... |
OMIM:275210 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du... |
OMIM:604292 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
OMIM:616737 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Congenital diaphragmatic hernia |
OMIM:614100 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Decreased fetal movement, Oligohydramnios |
OMIM:618823 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Macroorchidism, Male infertility, Oligozoospermia |
ORPHA:3000 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Decreased te... |
OMIM:610198 |
Weaver Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:3447 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:616030 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Aganglionic me... |
ORPHA:84 |
Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Patent ductus arteriosus, Horseshoe kidney, Blind vag... |
OMIM:608978 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Grow... |
ORPHA:469 |
Developmental And Epileptic Encephalopathy 86 |
|
Gastrostomy tube feeding in infancy, Oligohydramnios |
OMIM:618910 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Hypoplasia of the thymus, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... |
ORPHA:818 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter, Squamous cell carcinoma |
OMIM:618373 |
Coffin-Siris Syndrome 7 |
|
Polyhydramnios, Feeding difficulties, Single umbilical artery, Constipation, Oligohydramnios |
OMIM:618027 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re... |
ORPHA:2052 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614897 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Facial palsy, Polyhydramnios, Intestinal malrotation, Patent ductus... |
OMIM:300373 |
Thakker-Donnai Syndrome |
|
Rectovaginal fistula, Hydronephrosis |
ORPHA:1780 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Recurrent urinary tract infections, Renal insuff... |
ORPHA:731 |
Distal Deletion 10Q |
|
Patent ductus arteriosus, Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesi... |
ORPHA:96148 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia |
OMIM:620005 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... |
ORPHA:96182 |
Opsismodysplasia |
|
Recurrent respiratory infections, Polyhydramnios, Edema, Renal phosphate wasting, Protuberant abd... |
OMIM:258480 |
Monosomy 9P |
|
Ambiguous genitalia, Cryptorchidism, Ureteropelvic junction obstruction, Hypospadias |
ORPHA:261112 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma |
OMIM:191100 |
Achondrogenesis Type 1A |
|
Abdominal distention, Severe short stature |
ORPHA:93299 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Short stature, Feeding difficulties in infancy, Ileus, Vomiting, Constipation |
OMIM:300352 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Hydronephrosis |
ORPHA:2839 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:7 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... |
ORPHA:93271 |
Donohue Syndrome |
|
Postnatal growth retardation, Abdominal distention, Long penis, Ovarian cyst, Intrauterine growth... |
OMIM:246200 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Patent ductus art... |
ORPHA:2123 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Polymicrogyria |
ORPHA:220493 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... |
OMIM:107480 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... |
OMIM:228300 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... |
OMIM:266920 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, Renal dysplasia,... |
OMIM:617260 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Feeding difficultie... |
OMIM:613070 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Oligohydramnios, Glandular hypospadias, Abnormal preputium morphology |
ORPHA:293725 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Decreased fetal movement, Low 5-minute APGAR score, Polyhydramn... |
OMIM:176270 |
Severe Congenital Nemaline Myopathy |
|
Decreased fetal movement, Hypospadias, Facial palsy, Polyhydramnios, Edema of the dorsum of hands... |
ORPHA:171430 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Optic atrophy, Anencephaly, Ur... |
ORPHA:564 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Intrauterine growth retardation, Gastroesophageal reflux, Abdominal distention, Feeding difficulties |
OMIM:620275 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Recurrent urinary tract infections, Premature birth, Abnormality of prenatal... |
OMIM:619229 |
Piebaldism |
|
Aganglionic megacolon |
ORPHA:2884 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Renal cortical cysts |
ORPHA:79323 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Renal cortical... |
OMIM:214100 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, Penile hyposp... |
OMIM:620083 |
Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in childhood, Death in infancy, Neonatal death, Dysphagia |
OMIM:620265 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal atrophy, Vesicoureteral reflux |
OMIM:618659 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria |
OMIM:615228 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Cryptorchidism, Hypospadias, Renal dysplasia |
OMIM:300004 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Uretero... |
ORPHA:506358 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Feeding difficulties, Oligohydramnios |
ORPHA:261304 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Feeding difficulties in infancy, Abnormal pulmonary interstitial morphology, Oligohydramnios |
OMIM:619013 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hydrocele testis, Hypoplastic nipples, Ureteropelvic junction obstr... |
OMIM:280000 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Turcot Syndrome With Polyposis |
|
Papilledema, Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, ... |
ORPHA:99818 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Unilateral renal agenesis, Feeding difficulties, Chronic constipation, Bilateral ren... |
OMIM:619194 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty |
OMIM:618985 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Agonadism, Abnormality of the uterus, Amb... |
ORPHA:991 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis |
OMIM:612591 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Hypogonadism, Decreased testi... |
ORPHA:261349 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
Distal Monosomy 7Q36 |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:1636 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen duct, Decreased res... |
OMIM:129900 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism, Abnormality of the kidney |
ORPHA:466926 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Cryptorchidism, Micropenis, Hypospadias |
ORPHA:2872 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia |
OMIM:181270 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Trisomy 18 |
|
Spina bifida, Abnormality of the upper urinary tract, Esophageal atresia, Anencephaly, Hydronephr... |
ORPHA:3380 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
Carcinoid Syndrome |
|
Pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Paraganglioma, A... |
ORPHA:100093 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic fibrosis, Pancreatic cysts, Chronic kidney disease, ... |
OMIM:208500 |
Distal Duplication 18Q |
|
Cryptorchidism, Hypoplasia of penis, Abnormality of female external genitalia |
ORPHA:1716 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Elevated circulating alkaline phosphatase concentration, Anal stenosis, Aganglionic megacolon, Cl... |
OMIM:614207 |
Arthrogryposis Multiplex Congenita 6 |
|
Decreased fetal movement, Death in infancy, Hypospadias, Polyhydramnios, Death in childhood, Neon... |
OMIM:619334 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Cryptorchidism, Shawl scrotum, Micropenis, Hydronephrosis |
OMIM:301040 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Occipital encephalocele, Renal agenesis, Intestinal malrotation, Large... |
OMIM:249000 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter |
ORPHA:371428 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Hypospadias, Patent ductus arteriosus, Chronic constipation, Ve... |
ORPHA:163956 |
Isolated Epispadias |
|
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi... |
ORPHA:93928 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Mosaic Trisomy 20 |
|
Cryptorchidism, Abnormality of the kidney, Horseshoe kidney |
ORPHA:1724 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
OMIM:300712 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Bicornuate uterus, Vesicoureteral ref... |
ORPHA:2363 |
Okamoto Syndrome |
|
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... |
ORPHA:2729 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectop... |
ORPHA:99413 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectop... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectop... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectop... |
ORPHA:881 |
Beckwith-Wiedemann Syndrome |
|
Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal ... |
OMIM:130650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Micropenis |
OMIM:613156 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral refl... |
OMIM:610443 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B... |
ORPHA:436252 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Cholelithiasis, Increased glucagon level, Glucagonoma |
ORPHA:438274 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nep... |
ORPHA:369837 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Chronic constipation, Feeding difficulties, Oligohydramnios |
OMIM:619056 |
Cornelia De Lange Syndrome 5 |
|
Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size |
OMIM:300882 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Uric acid nephro... |
OMIM:300661 |
Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Cryptorchidism, Hypogonadism, Lacrimal gland hypoplasia |
OMIM:613266 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis |
ORPHA:140 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Stillbirth, Death in adolescence, Dysphagia |
OMIM:619751 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabsorption, Esophageal atr... |
OMIM:250250 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Growth delay, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary growth hormone cell adenoma, Pit... |
ORPHA:913 |
Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, Abnormality of the kidney, High, narrow palate, Abnormality of the ovary, ... |
OMIM:209900 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... |
ORPHA:3404 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Premature birth, Polyhydramnios, Feeding difficulties |
OMIM:611087 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Fraser Syndrome 1 |
|
Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micro... |
OMIM:219000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Cryptorchidism, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:300354 |
Tonne-Kalscheuer Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Decreased testicular size |
OMIM:300978 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst |
ORPHA:1692 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Anterior pituitary ... |
OMIM:619841 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Feeding difficul... |
OMIM:609049 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hypospadias, Intestinal polyp, Protuberant abdomen |
ORPHA:457485 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Congenital pyloric atresia |
OMIM:612138 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology |
ORPHA:722 |
Lathosterolosis |
|
Hypoplasia of penis, Horseshoe kidney |
ORPHA:46059 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Abnormality of the kidney, Unilateral renal agenesis... |
ORPHA:508488 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Abnormali... |
ORPHA:2745 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Multiple renal cysts |
ORPHA:1190 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Developmental And Epileptic Encephalopathy 18 |
|
Polyhydramnios, Oligohydramnios |
OMIM:615476 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Hepatic failu... |
OMIM:232500 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Cryptorchidism, Micropenis |
OMIM:612447 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Decreased fetal movement, Premature birth, Patent ductus arteriosus, Pulmonary hypoplasia, Dyspha... |
OMIM:616866 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Microphallus |
OMIM:300957 |
Osteopetrosis With Renal Tubular Acidosis |
|
Cranial nerve compression, Optic atrophy, Nephrolithiasis, Proximal renal tubular acidosis, Renal... |
ORPHA:2785 |
Luo-Schoch-Yamamoto Syndrome |
|
Feeding difficulties in infancy, Umbilical hernia, Oligohydramnios |
OMIM:619460 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal age... |
OMIM:308205 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubuloi... |
ORPHA:358 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Patent ductus arteriosus, Unilateral breast hypoplasia, Renal dysplasia |
OMIM:300968 |
Kabuki Syndrome 2 |
|
Horseshoe kidney |
OMIM:300867 |
Tarp Syndrome |
|
Cryptorchidism, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
2Q23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:228402 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Elevated urine pyrophosphate, Death in infancy, Polyhydramnios,... |
OMIM:241500 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... |
ORPHA:79319 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... |
ORPHA:26791 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ambiguous genitalia, Hypogonadotropic hypogonadism, Cryptorchidism, Patent d... |
OMIM:617159 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Hypospadias, Horseshoe kidney |
ORPHA:1708 |
Ruvalcaba Syndrome |
|
Hematuria, Cryptorchidism, Abnormal localization of kidney |
ORPHA:3121 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples |
OMIM:616001 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Renal salt wasting, Abdomina... |
ORPHA:275761 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:147950 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, ... |
ORPHA:478 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular size |
ORPHA:127 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Mult... |
ORPHA:567 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Disproportionate short-limb short stature, Cleft palate |
ORPHA:85166 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Intestinal malrotation, Exocrine pancreatic insufficiency, Pulmonary artery... |
ORPHA:2255 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... |
OMIM:619488 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Edema, Pericardial effusion, Hematemesis, Diarrhea, Bloody diarrhe... |
OMIM:615846 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:175700 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy, Feeding difficulties |
ORPHA:79320 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves... |
OMIM:616580 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple |
ORPHA:1001 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Abnorma... |
ORPHA:247768 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Vesicovaginal fistula |
OMIM:300896 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Renal cyst, Nephrot... |
OMIM:212065 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Postnatal growth retardation, Feeding difficulties, Growth ... |
ORPHA:2896 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
ORPHA:2673 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Small scrotum, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Chromosome 16Q22 Deletion Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:614541 |
Renpenning Syndrome 1 |
|
Decreased testicular size, Hypospadias, Renal hypoplasia, Phimosis |
OMIM:309500 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Growth delay, Abdominal distention, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abdominal distenti... |
ORPHA:309271 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Colitis, Steatorrhea |
ORPHA:309031 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst |
OMIM:610199 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Peripheral axonal neuropathy, Diabetes mellitus, Hyperthyroidism, Facial palsy, Facial diplegia, ... |
ORPHA:254892 |
Refractory Celiac Disease |
|
Villous atrophy, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Protein-losing en... |
ORPHA:398063 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the lungs, Single umbilical artery, Oligohydramnios, Renal hypoplasia/aplasia |
ORPHA:2167 |
Renal Agenesis, Bilateral |
|
Fetal polyuria, Renal agenesis, Tracheoesophageal fistula, Sirenomelia, Abnormal intestine morpho... |
ORPHA:1848 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Hypospadias |
ORPHA:494344 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arteriosus, Horseshoe kidne... |
ORPHA:2092 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... |
OMIM:194050 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding |
ORPHA:163961 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen, Severe short stature, Disproportionate short-limb short stature, Cleft palate |
OMIM:184250 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Decreased fetal movement, Gastroesophageal reflux, Dysphagia, Vesicoureteral reflux, Micropenis, ... |
OMIM:617330 |
Williams Syndrome |
|
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... |
ORPHA:904 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, De... |
ORPHA:10 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria |
ORPHA:35687 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Primary amenorrhea, Ectopic posterior pituitary |
ORPHA:95496 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypospadias, Postnatal growth retardation, Feeding difficulties, Gastroesophageal reflux, Esophag... |
ORPHA:79350 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Ne... |
ORPHA:276244 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl... |
ORPHA:280633 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic... |
ORPHA:1051 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption |
ORPHA:935 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Decreased nerve cond... |
ORPHA:309256 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Micropenis, Hydronephr... |
ORPHA:163979 |
Acro-Renal-Mandibular Syndrome |
|
Renal hypoplasia/aplasia, Abnormal lung lobation, Tracheoesophageal fistula, Pulmonary hypoplasia... |
ORPHA:958 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypogonadism, Vesicoureteral reflux... |
OMIM:309580 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Hypospadias |
OMIM:614613 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis |
OMIM:101800 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Renal salt wasting, Precocious puberty, Cryptorchidism, Oligozoosp... |
OMIM:300200 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis |
OMIM:260660 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis |
ORPHA:221139 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ure... |
ORPHA:1896 |
Wilson Disease |
|
Acute hepatic failure, Hyperphosphaturia, Proteinuria, Hepatocellular carcinoma, Decreased nerve ... |
OMIM:277900 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... |
ORPHA:252183 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Pulmonary arterial medial hypertrophy, Feeding difficulties, Pulmonary hypoplas... |
OMIM:601559 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus |
OMIM:607872 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr... |
OMIM:620305 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Multiple renal cysts, Metrorrhagia, Enlarged kidney |
ORPHA:464329 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... |
ORPHA:157794 |
Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... |
OMIM:164745 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Bdv Syndrome |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:619326 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Feeding difficulties |
OMIM:618154 |
Seckel Syndrome 5 |
|
Cryptorchidism, Hypospadias, Clitoral hypertrophy |
OMIM:613823 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Polycystic... |
OMIM:300855 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland, Abnormal localization of kidney |
ORPHA:3429 |
C Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Clitoral hypertrophy, Renal cortical cysts |
OMIM:211750 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis |
OMIM:620024 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Abnormal cortical gyration, Breech presentation, Renal hypoplasia, Renal cyst, ... |
OMIM:210710 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Vomiting |
OMIM:602199 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis |
OMIM:614921 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Vesicoure... |
OMIM:164210 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Short stature, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic nipples, Polycystic kidney dysplasia, Renal ... |
OMIM:614866 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hydronephrosis |
OMIM:608779 |
Achondrogenesis, Type Ii |
|
Disproportionate short-trunk short stature, Cleft palate, Stillbirth, Disproportionate short-limb... |
OMIM:200610 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Neoplasm of the liver, Nausea,... |
ORPHA:100085 |
Phace Association |
|
Optic nerve hypoplasia, Cavernous hemangioma of the face, Optic atrophy, Horner syndrome, Congeni... |
OMIM:606519 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Renal hypoplasia/aplasia, Patent ductus arteriosus, Pulmonary hypoplasia, Persistent cloaca, Olig... |
ORPHA:1112 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Aminoaciduria |
OMIM:249270 |
Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:3082 |
Congenital Myopathy 9A |
|
Death in infancy, Oligohydramnios |
OMIM:618822 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Short stature, Feeding difficulties in infancy, Secretory diarrhea, Enterocoliti... |
OMIM:616050 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Pancreatic cysts, Patent ductus arteriosus, Dilatation o... |
OMIM:274000 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Tubulointerstitial nephritis,... |
ORPHA:79078 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Cryptorchidism, Renal salt wasting |
OMIM:614736 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Cryptorchidism, Urachus fistula, Patent ductus arteriosus, Hy... |
OMIM:612541 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargem... |
ORPHA:449432 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys... |
OMIM:606232 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Enuresis, Aplas... |
ORPHA:96121 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Celiac disease, Abdominal distention, Gastrointestinal inflammation, Hep... |
ORPHA:186 |
Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
Ovarian Fibroma |
|
Abdominal distention, Abdominal pain |
ORPHA:314473 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism... |
OMIM:261540 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Oligohydramnios |
ORPHA:228390 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, Hypospadias |
ORPHA:98791 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Renal hypoplasia, Pseudohypoparathyroidism |
OMIM:617157 |
Hydrops Fetalis |
|
Abnormality of the gastrointestinal tract, Miscarriage, Abnormality of the kidney, Polyhydramnios... |
ORPHA:1041 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Neoplasm of the tongue, Ectopic thyroid, Hy... |
ORPHA:3047 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Nasogastric tube feeding in infancy, Oligohydramnios |
ORPHA:453510 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... |
ORPHA:495875 |
Trisomy 8P |
|
Cryptorchidism, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the ... |
ORPHA:264450 |
Niemann-Pick Disease, Type A |
|
Short stature, Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen |
OMIM:257200 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis, Intrauterine growth retard... |
OMIM:614602 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Nasogastric tube feed... |
ORPHA:268261 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Patent ductus arteriosus, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Leprechaunism |
|
Postnatal growth retardation, Abdominal distention, Rectal prolapse, Long penis, Hypercalciuria, ... |
ORPHA:508 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Patent ductus arteriosus, Hydrometrocolpos, Vaginal atresia, Horseshoe kidney |
OMIM:617088 |
Schaaf-Yang Syndrome |
|
Cryptorchidism, Micropenis, Hypogonadism |
OMIM:615547 |
Coffin-Siris Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hypospadias, Horseshoe kidney |
ORPHA:1465 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Esophageal varix, Vomiting, Protuberant abdomen, Steatorrhea, He... |
OMIM:278000 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Aganglionic megacolon |
OMIM:613603 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Vesicoureteral reflux, Annular... |
OMIM:616975 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Carpal bone hypoplasia, Generalized amyotrophy |
OMIM:601162 |
49,Xxxxy Syndrome |
|
Decreased testicular size, Hypoplasia of penis, Small scrotum, Renal hypoplasia/aplasia, Cryptorc... |
ORPHA:96264 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Achalasia |
OMIM:616007 |
C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... |
ORPHA:1308 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short stature, Postnatal growth retardation, Feeding difficulties in infan... |
ORPHA:3338 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Periventricular heterotopia, Patent ductus arteriosus, Pneumothorax, Feeding di... |
OMIM:612289 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:435938 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ... |
ORPHA:96147 |
3Mc Syndrome 1 |
|
Patent ductus arteriosus, Hydronephrosis, Supernumerary nipple |
OMIM:257920 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration |
ORPHA:31 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Poor suck, Decreased liver function, Oligohydramnios |
OMIM:606003 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Abdominal pain, Encopresis, Diarrhea, ... |
ORPHA:589821 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism |
OMIM:619761 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Warburg Micro Syndrome 4 |
|
Cryptorchidism, Micropenis, Small scrotum, Decreased testicular size |
OMIM:615663 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus... |
ORPHA:363528 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Cryptorchidism, Patent ductus arteriosus, Hypospadias |
ORPHA:500159 |
Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia |
OMIM:105650 |
Mirizzi Syndrome |
|
Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Polycystic kidney dysplasia |
OMIM:102500 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Proteinuria, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, ... |
ORPHA:79259 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Ab... |
ORPHA:538 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Urinary incontinence |
ORPHA:309263 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon |
ORPHA:163746 |
48,Xxxy Syndrome |
|
Decreased testicular size, Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypog... |
ORPHA:96263 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydronephrosis |
ORPHA:1340 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, 3-Methylglutaconic aciduria |
ORPHA:496790 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1454 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Mucopolysacchariduria, Renal agenesis, Hypercalciuria |
OMIM:618440 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... |
ORPHA:2044 |
Charge Syndrome |
|
Hypoparathyroidism, Renal agenesis, Hypogonadotropic hypogonadism, Decreased response to growth h... |
OMIM:214800 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria |
OMIM:619127 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Lathosterolosis |
|
Ambiguous genitalia, male, Bilobate gallbladder, Horseshoe kidney |
OMIM:607330 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Decreased fetal movement, Pneumonia, Facial palsy, Edema, Polyh... |
ORPHA:98905 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Simplified gyral pattern, Pulmonary hypoplasia, Oligohydramnios |
OMIM:251230 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Spinal cord tumor, Ov... |
ORPHA:370348 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Death in infancy, Polyhydramnios, Esophageal atresia, Congenital pyloric atresia, Urethrovesical ... |
OMIM:226730 |
Orofaciodigital Syndrome Xiv |
|
Epispadias, Patent ductus arteriosus, Cryptorchidism, Unilateral renal hypoplasia, Micropenis |
OMIM:615948 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Hypoplastic labia majora, Clitoral hypoplasia,... |
OMIM:268310 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... |
OMIM:615849 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Short stature, Spina bifida, Myelomeningocele, Meningocele, Cleft p... |
ORPHA:1393 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypopla... |
ORPHA:97360 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Pyloric stenosis, Pneumothorax, Nephrocalcinosis, Micropenis, Oligohydramnios |
OMIM:617402 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Esophagitis, Feeding difficulties |
OMIM:615356 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Oligohydramnios |
ORPHA:488632 |
Opitz Gbbb Syndrome |
|
Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posterior urethral valve, Vesicour... |
OMIM:300000 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis |
OMIM:618419 |
D-Bifunctional Protein Deficiency |
|
Bile duct proliferation, Renal cyst |
OMIM:261515 |
Apert Syndrome |
|
Cryptorchidism, Vaginal atresia, Hydronephrosis |
OMIM:101200 |
Isolated Congenital Alacrima |
|
Achalasia |
ORPHA:91416 |
Ohdo Syndrome |
|
Cryptorchidism, Small scrotum, Proteinuria |
OMIM:249620 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Short stature |
OMIM:619423 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Kleefstra Syndrome 1 |
|
Cryptorchidism, Micropenis, Abnormal renal morphology, Hypospadias |
OMIM:610253 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:77298 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... |
OMIM:267750 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Repeated pneumothoraces, Atelectasis, Peripapillary atrophy, Pulmonary hypoplasia... |
ORPHA:536467 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Cryptorchidism, Hypospadias, Supernumerary nipple |
OMIM:618109 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis |
OMIM:615190 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Abnormality of female external genitalia, Hydron... |
ORPHA:235 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Patent ductus arteriosus, Feeding difficulties, Oligohydramnios |
OMIM:620113 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria |
OMIM:619003 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Congenital Analbuminemia |
|
Premature birth, Miscarriage, Edema, Facial edema, Pedal edema, Recurrent lower respiratory tract... |
ORPHA:86816 |
Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi... |
OMIM:300519 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Polyhydramnios, Optic atrophy, Gastroesophageal reflux, Increased cup-to-disc... |
ORPHA:500144 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, Horseshoe kidney, Decreased testicular ... |
OMIM:305000 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Renal agenesis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Micropenis, Decreased te... |
ORPHA:2326 |
Chromosome 18P Deletion Syndrome |
|
Gonadal dysgenesis, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:146390 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis |
ORPHA:457284 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
15Q24 Microdeletion Syndrome |
|
Cryptorchidism, Hypospadias, Microphallus, Decreased response to growth hormone stimulation test |
ORPHA:94065 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Aganglionic megacolon |
OMIM:609460 |
Schneckenbecken Dysplasia |
|
Protuberant abdomen, Stillbirth, Disproportionate short-limb short stature, Cleft palate |
OMIM:269250 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Anterior hypopituitarism |
OMIM:607932 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Patent ductus arteriosus, Homocystinuria, Methylmalonic aciduria |
OMIM:614857 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, Abdominal pain, High, narrow palate, Rectal prolapse,... |
ORPHA:79076 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Nausea |
ORPHA:100086 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Horseshoe... |
ORPHA:138 |
Craniorachischisis |
|
Cervical spina bifida, Sirenomelia, Congenital diaphragmatic hernia, Spinal dysraphism |
ORPHA:63260 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis |
OMIM:213980 |
Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Abnormality of the kidney, Feeding difficulties in infancy, Nas... |
ORPHA:177907 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Cryptorchidism, Micropenis |
OMIM:243310 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Oligohydramnios |
OMIM:616351 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Horseshoe kidney |
ORPHA:221120 |
Chromosome 17P13.1 Deletion Syndrome |
|
Decreased fetal movement, Spina bifida, Feeding difficulties, Umbilical hernia, Oligohydramnios |
OMIM:613776 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Disproportionate short-trunk short stature, Protuberant abdomen |
OMIM:613330 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Leopard Syndrome 1 |
|
Micropenis, Hypospadias, Unilateral renal agenesis |
OMIM:151100 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias |
OMIM:606851 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Micropenis, Supernumerary nipple |
ORPHA:2519 |
Ovarian Fibrothecoma |
|
Abdominal distention, Abdominal pain |
ORPHA:314478 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cryptorchidism, Micropenis, Small scrotum, Microphallus |
OMIM:300486 |
Kapur-Toriello Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Abnormality of the urinary sy... |
OMIM:244300 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Short stature, Postnatal growth retardation, Diarrhea, Malnutrition, Optic at... |
ORPHA:96180 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Micropenis |
OMIM:609625 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Cryptorchidism, Urethral stenosis |
OMIM:613990 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... |
OMIM:619503 |
Chand Syndrome |
|
Hydroureter, Imperforate hymen |
ORPHA:1401 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Cryptorchidism, Abnormality of the scrotum, Small scrotum, Hypospadias |
ORPHA:2505 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... |
ORPHA:813 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Horseshoe kidney |
ORPHA:1106 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Short stature, Diarrhea |
OMIM:211600 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Urinary incontinence |
ORPHA:169189 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C... |
ORPHA:261537 |
Short Stature-Micrognathia Syndrome |
|
Cryptorchidism, Micropenis, Small scrotum, Penoscrotal hypospadias |
OMIM:617164 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Hypoplastic fe... |
ORPHA:1507 |
Triploidy |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:3376 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Sialuria |
|
Macroglossia, Increased level of N-acetylneuraminic acid in urine, High palate, Protuberant abdomen |
OMIM:269921 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Death in adolescence, Death in infancy, Oligohydramnios |
OMIM:615512 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of th... |
ORPHA:2152 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Hydronephrosis |
OMIM:251260 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, An... |
ORPHA:798 |
Buratti-Harel Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:619314 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Unilateral renal hypoplasia, Precocious puberty, Macroorchidism |
OMIM:619950 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral ... |
ORPHA:99429 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Malabsorption |
ORPHA:175 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction... |
ORPHA:512 |
Schwartz-Jampel Syndrome |
|
Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, Testicular torsion... |
ORPHA:800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia |
OMIM:620073 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Micropenis |
OMIM:609945 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A... |
ORPHA:2636 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Necrotizing Enterocolitis |
|
Abdominal distention, Diarrhea, Vomiting, Bloody diarrhea |
ORPHA:391673 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Polyhydramnios, Abnormal cranial nerve morphology |
ORPHA:990 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia |
ORPHA:210548 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure |
OMIM:607765 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Polyhydramnios, Feeding difficulties in infancy, Neonatal death, Micropenis, Fetal distress |
OMIM:618810 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short stature, Protuberant abdomen |
OMIM:617102 |
Distal Duplication 17Q |
|
Vesicoureteral reflux, Cryptorchidism, Renal duplication |
ORPHA:3379 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
Chromosome 15Q25 Deletion Syndrome |
|
Cryptorchidism, Dilatation of renal calices |
OMIM:614294 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Lethal short-limbed short stature, Disproportionate short-limb short stature, Pro... |
OMIM:187600 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Horseshoe kidney |
ORPHA:508533 |
Warburg Micro Syndrome 2 |
|
Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum |
OMIM:614225 |
Microphthalmia, Syndromic 5 |
|
Cryptorchidism, Micropenis, Ectopic posterior pituitary |
OMIM:610125 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hypospadias |
OMIM:601499 |
Caroli Disease |
|
Cholelithiasis, Polycystic kidney dysplasia |
ORPHA:53035 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Renal salt wasting, Female ... |
ORPHA:168558 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Unilateral renal agenesis, Velopharyngeal insufficiency, Cleft palate, Bic... |
OMIM:154400 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis |
ORPHA:3134 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... |
OMIM:612651 |
Lig4 Syndrome |
|
Cryptorchidism, Micropenis, Amenorrhea |
OMIM:606593 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Fetal polyuria, Premature birth, Polyuria, Polyhydramnios, Hypercalciuria, Medullary nephrocalcin... |
OMIM:300971 |
Jacobsen Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Annular pancreas, Hydronephrosis |
ORPHA:2308 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis |
OMIM:115150 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Horsesho... |
ORPHA:3310 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Micropenis, Pancreatic fibrosis, Polycystic kidney dysplasia |
OMIM:263520 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Renal salt wasting, Female ... |
ORPHA:289548 |
Cardiospondylocarpofacial Syndrome |
|
Vesicoureteral reflux, Decreased testicular size, Horseshoe kidney |
OMIM:157800 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis, Congenital post... |
OMIM:136140 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Short stature, Reye syndrome-like episodes, Abdominal distention, Diarrhea... |
OMIM:256810 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
ORPHA:398079 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Micropenis |
OMIM:619847 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Abnormal loc... |
ORPHA:1596 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Patent ductus arteriosus, Dilatation of the renal pelvis, Dilatation of... |
OMIM:265380 |
Trichothiodystrophy 3, Photosensitive |
|
Short stature, Pyloric stenosis, Feeding difficulties, Intrauterine growth retardation, Meckel di... |
OMIM:616395 |
Trisomy 8Q |
|
Displacement of the urethral meatus, Hypoplasia of penis, Cryptorchidism |
ORPHA:1752 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Cryptorchidism, Patent ductus arteriosus, Hydroureter |
OMIM:610759 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias, Supernumerary nipple |
ORPHA:217346 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C... |
ORPHA:261552 |
Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Postnatal growth retardation, Heparan sulfate excretion in u... |
OMIM:253220 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cranial nerve compression, Paraganglioma |
ORPHA:94080 |
Lig4 Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:99812 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cryptorchidism, Abnormal pancreas morphology, Nephrolithiasis, Hypercalciur... |
ORPHA:116 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, Optic atrophy, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia |
OMIM:309800 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Mild proteinuria |
OMIM:619685 |
Lethal Congenital Contracture Syndrome 10 |
|
Oligohydramnios, Pulmonary hypoplasia, Hydrops fetalis, Fetal akinesia sequence |
OMIM:617022 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Cole-Carpenter Syndrome 2 |
|
Oligohydramnios |
OMIM:616294 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Simplified gyral pattern, Oligohydramnios |
OMIM:617604 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Growth delay, Vomiting, Tube feeding |
OMIM:619510 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Renal salt wasting, Precocious puberty, Cryptorchidism, Testi... |
ORPHA:361 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Supernumerary nipple |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Supernumerary nipple |
ORPHA:352665 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ... |
OMIM:201750 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple |
OMIM:618929 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural thickening, Fetal p... |
OMIM:620014 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Intestinal malrotation, Esophageal varix, Abnormal pulmonary ... |
OMIM:613658 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting |
OMIM:620233 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Micropenis, Congenital hypoparathyroidism, Decreased response to growth hormone s... |
OMIM:241410 |
Postaxial Acrofacial Dysostosis |
|
Cryptorchidism, Micropenis, Abnormality of the kidney, Supernumerary nipple |
OMIM:263750 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation... |
ORPHA:363958 |
Roberts Syndrome |
|
Cryptorchidism, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Hor... |
ORPHA:444077 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl... |
OMIM:606170 |
Trisomy 10P |
|
Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Rectovaginal fistula |
ORPHA:171929 |
Macs Syndrome |
|
Cryptorchidism, Urethral stenosis, Hypergonadotropic hypogonadism |
OMIM:613075 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal localization... |
ORPHA:2166 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Feeding difficulties in infancy, Premature birth, Oligohydramnios |
OMIM:616914 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Oligohydramnios |
OMIM:613451 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Uterine leiomyoma, Glandular hypospadias, Breast hypoplasia |
ORPHA:1439 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypoplasia, Hydroneph... |
ORPHA:83617 |
Diamond-Blackfan Anemia |
|
Renal agenesis, Hypospadias, Horseshoe kidney |
ORPHA:124 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Septo-Optic Dysplasia Spectrum |
|
Cryptorchidism, Hypoplasia of penis, Anterior pituitary hypoplasia |
ORPHA:3157 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypospadias |
OMIM:603736 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis |
ORPHA:261337 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia... |
OMIM:305600 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Crane-Heise Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:1512 |
X Small Rings |
|
Fetal pyelectasis, Feeding difficulties, Oligohydramnios |
ORPHA:96201 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen, Severe short-limb dwarfism, Cleft palate, Mesomelic/rhizomelic limb shortening |
ORPHA:2347 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Hypoplastic labia ma... |
OMIM:134780 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Azo... |
ORPHA:251066 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
Mosaic Variegated Aneuploidy Syndrome |
|
Ambiguous genitalia, Multicystic kidney dysplasia, Vaginal neoplasm, Nephroblastoma |
ORPHA:1052 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Patent ductus arteriosus, Feeding difficulties, Nephrocalcinosis, Recurrent lower... |
OMIM:618005 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Nephro... |
ORPHA:353281 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Hypospadias |
ORPHA:1786 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypospadias, Hypogonadotropic hypogonadism |
OMIM:619718 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology, Hydronephrosis |
OMIM:236680 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... |
OMIM:618022 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypoplasia of penis, Congenital hypoparathyroidism |
ORPHA:2323 |
Heterotaxy, Visceral, 1, X-Linked |
|
Patent ductus arteriosus, Enlarged kidney, Renal agenesis, Horseshoe kidney |
OMIM:306955 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Disproportionate short stature, Severe short stature |
ORPHA:93352 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Abnormality of th... |
ORPHA:438213 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Micropenis |
OMIM:607143 |
Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, C... |
ORPHA:93932 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Coronal hypospadias |
OMIM:619859 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Patent ductus arteri... |
ORPHA:1606 |
Hatipoglu Immunodeficiency Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:620331 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Growth delay, Generalized aminoaciduria, Protuberant abdomen |
OMIM:264700 |
Pearson Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Proteinuria, Decreased response to growth hormone stimul... |
ORPHA:699 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter |
ORPHA:1571 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Hypospadias, Tracheoesophageal fistula, Polyhydramnios |
ORPHA:1923 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Disproportionate short-limb short stature |
OMIM:602557 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom... |
OMIM:619377 |
Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Digeorge Syndrome |
|
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Patent ductus arteriosus, P... |
OMIM:188400 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Caroli Syndrome |
|
Abnormal ductus choledochus morphology, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy, Ren... |
OMIM:618183 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Postnatal growth retardation, Short stature, Generalized aminoaciduria, Protuberant abdomen |
ORPHA:289157 |
Distal Duplication 5Q |
|
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Immunodeficiency 31C |
|
Villous atrophy, Short stature, Diarrhea, Gastrointestinal eosinophilia, Growth delay, Protein-lo... |
OMIM:614162 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ambiguous genitalia, Cryptorchidism, Micropenis |
OMIM:614969 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Hydronephrosis, Cryptorchidism |
OMIM:601776 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Cryptorchidism, Hypoplastic labia majora, Clitoral hypoplasia, Micropenis, Hydronephrosis, Renal ... |
OMIM:180700 |
Proboscis Lateralis |
|
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis |
ORPHA:141099 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, H... |
ORPHA:2273 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Orchitis, Abnormalit... |
ORPHA:449563 |
Seckel Syndrome 1 |
|
Cryptorchidism, Hypospadias, Clitoral hypertrophy |
OMIM:210600 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
4-hydroxyphenylacetic aciduria, Abdominal distention, 4-Hydroxyphenylpyruvic aciduria, Intrauteri... |
OMIM:617156 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Protuberant abdomen, High palate, Cleft palate |
OMIM:616038 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Hypospadias, Supernumerary nipple, Renal cortical cysts, Hyperechogenic kidn... |
ORPHA:397715 |
Hereditary Spherocytosis |
|
Growth delay, Abdominal distention, Abdominal pain |
ORPHA:822 |
Idiopathic Hypereosinophilic Syndrome |
|
Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, Chronic dia... |
ORPHA:3260 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Cryptorchidism, Hypospadias |
OMIM:613026 |
Fibrochondrogenesis 1 |
|
Protuberant abdomen, Stillbirth, Rhizomelia, Cleft palate |
OMIM:228520 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Optic atrophy, Distal amyotrophy |
OMIM:614298 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis |
OMIM:312830 |
Blau Syndrome |
|
Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Nephropathy, Abnormal salivary gland mo... |
ORPHA:90340 |
Perlman Syndrome |
|
Nephrogenic rest, Renal hamartoma, Cryptorchidism, Nephroblastomatosis, Nephroblastoma |
OMIM:267000 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Recurrent urinary tract infections, Malabsorption, Protracted diarrhea, Colitis |
OMIM:209920 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Cryptorchidism, Proximal r... |
ORPHA:534 |
Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Decreased fetal movement, Death in infancy, Polyhydramnios, Umbilical hernia, ... |
OMIM:618947 |
Hurler Syndrome |
|
Short stature, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Macroglos... |
OMIM:607014 |
Immunodeficiency 77 |
|
Gastroparesis |
OMIM:619223 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Renal agenesis, Renal hypoplasia/aplasia, Rectal atresia, Feedi... |
ORPHA:2753 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Enlarged lacrimal glands, Hypercalciuria, Inflammation of the large intestine, ... |
OMIM:181000 |
Muir-Torre Syndrome |
|
Colonic diverticula, Benign gastrointestinal tract tumors, Duodenal adenocarcinoma, Colon cancer |
OMIM:158320 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Supernumerary nipple |
ORPHA:1812 |
Meier-Gorlin Syndrome 5 |
|
Cryptorchidism, Micropenis |
OMIM:613805 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Abnormality of the kidney, Cryptorchidism, Patent ductus arteriosus, Micropenis |
ORPHA:495818 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Bloo... |
ORPHA:90038 |
Mowat-Wilson Syndrome |
|
Short stature, Aganglionic megacolon, Hypospadias, Abnormality of the kidney, Pyloric stenosis, A... |
OMIM:235730 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Cryptorchidism, Small scrotum, Hypospadias, Ureterocele |
OMIM:616734 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Polycystic ovaries, Glycosuria, Abnor... |
ORPHA:2298 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... |
ORPHA:424016 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy |
OMIM:242500 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Shawl scrotum, Micropenis |
OMIM:600460 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Micropenis, Renal dysplasia, Ureterocele |
ORPHA:1934 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Hypospadias, Cryptorchidism, Breast aplasia, Vesicoureteral reflux, Micropeni... |
OMIM:617063 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, ... |
ORPHA:95455 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Secretory diarrhea, Feeding diffi... |
OMIM:619573 |
Scedosporiosis |
|
Abnormal renal morphology, Abnormal jejunum morphology |
ORPHA:449280 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Renal insufficiency, Bile duct proliferation, Renal cyst |
OMIM:613610 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Fetal polyuria, Premature birth, Polyuria, Edema, Increase... |
OMIM:613090 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cryptorchidism, Patent ductus arteriosus, Hypospadias |
OMIM:217980 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Abdominal distention, Diarrhe... |
OMIM:619991 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... |
ORPHA:398069 |
Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Hypospadias, Decreased fertility, Abnormal localization of kidney |
ORPHA:500 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Oligohydramnios, Protuberant abdomen, Umbilical hernia, Gastros... |
ORPHA:576 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hypospadias |
ORPHA:251071 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent ductus ... |
OMIM:618280 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma |
ORPHA:97286 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Chronic diarrhea, Villous atrophy, Ileus, Glomerulonephritis |
OMIM:304790 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cryptorchidism, Patent ductus arteriosus, Clitoral hypoplasia, Vesicoureteral reflux, Micropenis |
OMIM:616894 |
8Q21.11 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:284160 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Patent ductus arteriosus, Shawl scrotum,... |
ORPHA:2282 |
Coffin-Siris Syndrome 12 |
|
Cryptorchidism, Hypospadias, Horseshoe kidney |
OMIM:619325 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Letterer-Siwe Disease |
|
Abdominal distention |
OMIM:246400 |
Achondrogenesis, Type Ia |
|
Stillbirth, Disproportionate short-trunk short stature, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Ellis-Van Creveld Syndrome |
|
Epispadias, Hypospadias, Cryptorchidism |
OMIM:225500 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Hepatic failure |
OMIM:214950 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydr... |
OMIM:606812 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu... |
OMIM:605711 |
Arboleda-Tham Syndrome |
|
Bilateral cryptorchidism, Recurrent urinary tract infections, Patent ductus arteriosus, Hydroneph... |
OMIM:616268 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:899 |
Mucopolysaccharidosis Type 3 |
|
Malabsorption, Heparan sulfate excretion in urine, Optic atrophy, Macroglossia, Mucopolysaccharid... |
ORPHA:581 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Death in early adulthood, Gastroparesis, Intestinal pseudo-obstruction, Mala... |
OMIM:603041 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Micropenis, Hypogonadism |
ORPHA:500055 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hepatic failure |
ORPHA:79302 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Feeding difficulties, Disproportionate short-limb short stature, Protuberant abdomen... |
OMIM:619479 |
Vitamin D-Dependent Rickets, Type 2A |
|
Growth delay, Protuberant abdomen |
OMIM:277440 |
Sarcoidosis |
|
Renal insufficiency, Facial palsy, Enlarged lacrimal glands, Nephrolithiasis, Hypercalciuria, Enl... |
ORPHA:797 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... |
OMIM:613457 |
Atelosteogenesis, Type I |
|
Rhizomelia, Cleft palate, Stillbirth, Disproportionate short-limb short stature, Protuberant abdo... |
OMIM:108720 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Renal insufficiency, Proteinuria, Cryptorchidism |
ORPHA:90321 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Fetal polyuria, Premature birth, Polyuria, Polyhydramnios, Renal salt wasting, ... |
OMIM:601678 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Patent ductus arteriosus, Long penis, Horsesh... |
OMIM:268300 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Micropenis |
OMIM:614230 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Male hypogonadism, Micropenis, Proteinuria |
OMIM:619471 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... |
ORPHA:79139 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Gaucher Disease, Type Ii |
|
Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia |
OMIM:230900 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:617602 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Breast hypoplas... |
OMIM:613803 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Nephrocalcinosis, Abnorma... |
ORPHA:79500 |
Acrocardiofacial Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:2008 |
Afibrinogenemia, Congenital |
|
Death in infancy, Hematemesis, Death in adolescence, Death in childhood, Neonatal death |
OMIM:202400 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Paten... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Paten... |
ORPHA:353277 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Myeloid leukemia, Neuroendocrine neoplasm |
ORPHA:404443 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... |
ORPHA:2588 |
Stüve-Wiedemann Syndrome |
|
Feeding difficulties in infancy, Abnormal autonomic nervous system physiology, Oligohydramnios |
ORPHA:3206 |
Bartter Syndrome Type 4 |
|
Premature birth, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal ... |
ORPHA:89938 |
Campomelic Dysplasia |
|
Sex reversal, Hypospadias, Hydronephrosis |
OMIM:114290 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bilateral renal dysplasia, Unilateral renal agenesis, Horseshoe kidney |
ORPHA:500150 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia |
ORPHA:2250 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:363700 |
Cranioectodermal Dysplasia 1 |
|
Rhizomelia, Renal magnesium wasting, High, narrow palate, Chronic kidney disease, Stage 5 chronic... |
OMIM:218330 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arterio... |
OMIM:180849 |
Mucolipidosis Ii Alpha/Beta |
|
Growth delay, Macroglossia, Severe postnatal growth retardation, Mucopolysacchariduria, Protubera... |
OMIM:252500 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Oligohydramnios |
ORPHA:3016 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Multiple renal cysts, Hypospadias |
ORPHA:955 |
Melioidosis |
|
Abnormal parotid gland morphology, Parotitis |
ORPHA:31202 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Cryptorchidism, Micropenis |
OMIM:616331 |
Rh Deficiency Syndrome |
|
Miscarriage, Oligohydramnios |
ORPHA:71275 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi... |
ORPHA:199 |
Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100080 |
Recombinant 8 Syndrome |
|
Small scrotum, Abnormality of the kidney, Cryptorchidism, Patent ductus arteriosus, Hypoplastic m... |
ORPHA:96167 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Gastritis, Abdominal pain, Hematemesis, Diarrhe... |
ORPHA:73263 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Phace Syndrome |
|
Visceral angiomatosis, Hypothyroidism, Capillary hemangioma, Ectopic thyroid |
ORPHA:42775 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligohydramnios |
ORPHA:364577 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Renal agenesis, Abnormal fallopian tube morphology, Renal hypoplasia/aplasia |
ORPHA:3412 |
Lethal Acantholytic Erosive Disorder |
|
Oligohydramnios |
ORPHA:158687 |
Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Rhizomelia, Cleft palate, Rhizomelic arm shortening, Protuberant abdomen |
ORPHA:56304 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Dehydration, Abnormal placenta morphology, Umbilical hernia, Oligohydra... |
ORPHA:96191 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Aplasia of the thymus |
OMIM:102700 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Urogenital sinus anomaly, Chordee, G... |
OMIM:618820 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Fetal polyuria, Premature birth, Polyuria, Polyhydramnios, Renal salt wasting, ... |
OMIM:241200 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Duplicat... |
OMIM:312870 |
X-Linked Acrogigantism |
|
Abdominal distention, Delayed puberty |
ORPHA:300373 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Hydronephrosis |
OMIM:620330 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Ova... |
ORPHA:744 |
Kasabach-Merritt Syndrome |
|
Abdominal distention, Hepatic hemangioma, Abdominal pain |
ORPHA:2330 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Cryptorchidism, Chordee, Supernumerary nipple |
OMIM:616728 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... |
OMIM:603457 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death |
OMIM:620203 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Absent gallbladder, Patent ductus arteriosus, Glycosuria, Pancreatic hypopl... |
OMIM:600001 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, Hypoplast... |
ORPHA:2554 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Oligohydramnios |
OMIM:260370 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Septate vagina, Urethrovaginal fistula, Cryptorchidism, Rectovaginal fistula, Hypopl... |
OMIM:243800 |
Nablus Mask-Like Facial Syndrome |
|
Cryptorchidism, Micropenis, Hypoplastic nipples, Labial hypoplasia |
OMIM:608156 |
Microphthalmia, Syndromic 3 |
|
Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Cryptorchidism, Patent... |
OMIM:206900 |
Otopalatodigital Syndrome, Type Ii |
|
Cryptorchidism, Hypospadias, Hydronephrosis |
OMIM:304120 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Hypogonadotropic hypogonadism, Decreased respons... |
ORPHA:3455 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Hypercalciuria, 3-Methylglutaric acid... |
OMIM:557000 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Dyggve-Melchior-Clausen Disease |
|
Severe short stature, Rhizomelia, Protuberant abdomen, Disproportionate short-trunk short stature |
ORPHA:239 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Short stature, Diarrhea, Esophageal carcinoma, Functional abnormality of the bla... |
ORPHA:391487 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Micropenis |
OMIM:619005 |
Craniofrontonasal Syndrome |
|
Hypospadias, Cryptorchidism, Shawl scrotum, Unilateral breast hypoplasia, Breast hypoplasia |
OMIM:304110 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Cyst of the ductus choledochus, Patent ductus arteriosus, Hypoplastic nipples, H... |
ORPHA:480880 |
Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100082 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Peripheral axonal neuropathy, Brain neoplasm, Diabetes mellitus, Decreased... |
ORPHA:273 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst |
OMIM:113620 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Short stature, Abdominal distention, Esophageal varix, Stage 5 c... |
OMIM:619534 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Severe short stature, Pyloric stenosis, Pyelonephritis, Ureth... |
ORPHA:90349 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Annular pancreas |
OMIM:147791 |
Restrictive Dermopathy |
|
Ureteral duplication, Decreased fetal movement, Hypospadias, Premature delivery because of cervic... |
ORPHA:1662 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Growth delay, Inflammation of the large in... |
OMIM:614700 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Brain neoplasm |
ORPHA:100070 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Nausea |
ORPHA:2828 |
Congenital Tricuspid Stenosis |
|
Carcinoid tumor |
ORPHA:95459 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Proportionate short stature, Narrow palate, High palate, Protuberant abdomen |
OMIM:608328 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Death in infancy, Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
Blomstrand Lethal Chondrodysplasia |
|
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen, Protruding tongue |
ORPHA:50945 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Optic disc pallor, Ketonuria, Lacticaciduria |
OMIM:619167 |
Bloom Syndrome |
|
Acute myeloid leukemia, Malignant genitourinary tract tumor, Male infertility, Diabetes mellitus,... |
ORPHA:125 |
Greenberg Dysplasia |
|
Rhizomelia, Severe short-limb dwarfism, Stillbirth, Disproportionate short-limb short stature, Pr... |
OMIM:215140 |
Neuroendocrine Tumor Of Stomach |
|
Increased circulating ACTH level, Increased serum serotonin, Paraganglioma, Atypical pulmonary ca... |
ORPHA:100075 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple |
ORPHA:477993 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Short stature, Hypospadias, Galactosuria, Intractable diarrhea, Intrauterine gro... |
OMIM:222470 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:618846 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Pollakisuria, Shawl scrotum, Cryptorchidism |
OMIM:227330 |
Hartsfield Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Gonadotropin deficiency |
OMIM:615465 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Oral ulcer |
ORPHA:50918 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Increased urinary glycerol |
OMIM:307030 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm, Oligohydramnios |
OMIM:614437 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, External genital hypoplasia, Cryptorchidism, Hypogonadism, Moderate albuminuria |
OMIM:614231 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Galactosuria |
ORPHA:85276 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... |
ORPHA:2658 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the t... |
ORPHA:861 |
Isolated Biliary Atresia |
|
Acholic stools, Fat malabsorption, Decreased liver function, Dark yellow urine |
ORPHA:30391 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis |
ORPHA:99646 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Constipation, Gastroesophageal reflux, Facial palsy, Gastroparesis |
OMIM:610131 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gastroparesis, Urinary incontinence, Bowel incontinence |
OMIM:618877 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Chromosome 13Q14 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple |
OMIM:613884 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis |
ORPHA:109 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Oligohydramnios |
OMIM:608670 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Proteinuria |
OMIM:616682 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Mild short stature, Rhizomelia, Disproportionate short-limb short stature, Protuberant abdomen |
OMIM:618019 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Postnatal growth retardation, Feeding difficulties, Growth delay, Macroglossia, Pr... |
ORPHA:96334 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
|
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... |
OMIM:613675 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis |
ORPHA:70595 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Gastroparesis, Urinary incontinence, Paralytic ileus, Constipation, Urin... |
ORPHA:139417 |
Proximal Spinal Muscular Atrophy |
|
Gastroparesis, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia |
ORPHA:70 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Short stature, Malnutrition, Growth delay, Steatorrhea... |
ORPHA:811 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Short stature, Growth delay, Macroglossia, Chronic constipation, Protuberant abdomen, Parotitis |
OMIM:256040 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal... |
OMIM:601803 |
Pmm2-Cdg |
|
Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Ne... |
ORPHA:79318 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... |
OMIM:619381 |
Abetalipoproteinemia |
|
Fat malabsorption, Chronic diarrhea, Vomiting, Steatorrhea |
ORPHA:14 |
Pyknoachondrogenesis |
|
Abdominal distention |
ORPHA:3003 |
Eisenmenger Syndrome |
|
Abdominal distention, Renal insufficiency |
ORPHA:97214 |
Tibial Hemimelia |
|
Ambiguous genitalia, Cryptorchidism, Hypospadias |
ORPHA:93322 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Hepatic failure, Abdominal pain |
ORPHA:567983 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gastroparesis, Facial palsy, Dysphagia |
OMIM:157640 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Hypospadias, Malrotation of small bowel, Cleft palate, Growth delay, Severe postna... |
OMIM:194190 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Bladder di... |
ORPHA:198 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Dysphagia, Neonatal death |
OMIM:617248 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Gastroparesis, Dysphagia |
OMIM:607459 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Mgat2-Cdg |
|
Gastroesophageal reflux, Gastroparesis |
ORPHA:79329 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Prader-Willi Syndrome |
|
Xerostomia, Vomiting, Gastroparesis |
ORPHA:739 |
Noonan Syndrome 1 |
|
Male infertility, Juvenile myelomonocytic leukemia, Cryptorchidism, Hypogonadism, Neurofibrosarcoma |
OMIM:163950 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Gastroparesis |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Gastroparesis |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Gastroparesis |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Gastroparesis |
ORPHA:177901 |