Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Pituitary Dwarfism With Large Sella Turcica |
|
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... |
OMIM:262710 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Abnormality of the upper urinary tract, Severe postnatal growth retardation, G... |
ORPHA:411590 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Hypothyroidism |
ORPHA:1195 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus, Dehydration |
OMIM:601410 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... |
OMIM:609698 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test, Short ... |
OMIM:300123 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De... |
ORPHA:99886 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Hyperglycemia |
ORPHA:2056 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria |
OMIM:606528 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Thyroid Dyshormonogenesis 5 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274800 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... |
ORPHA:35878 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Short stature, Hyperlipidemia |
ORPHA:329249 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Hyperlipidemia, H... |
OMIM:232700 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... |
ORPHA:69076 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... |
OMIM:610199 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Hypoglycemia, Cryptorchidism, Dehydration, Intrauterine growth retardation |
OMIM:618958 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... |
ORPHA:1227 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:604367 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Donohue Syndrome |
|
Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, He... |
OMIM:246200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... |
OMIM:208540 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria |
OMIM:222100 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Post... |
ORPHA:453533 |
Joubert Syndrome 26 |
|
Short stature, Decreased response to growth hormone stimulation test, Central hypothyroidism, Mic... |
OMIM:616784 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Cholestatic liver disease, Portal hypertension, Dehydration |
ORPHA:83620 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Hypogonadism... |
ORPHA:3363 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Short stature, Hypoglycemia, Adrenal hypoplasia... |
ORPHA:95496 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Dehydration |
ORPHA:79159 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Adrenocortical carcinoma, Pancrea... |
OMIM:130650 |
Femoral-Facial Syndrome |
|
Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal ... |
ORPHA:1988 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadias, Renal insufficiency... |
ORPHA:93111 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Episodic hyperhidro... |
ORPHA:276580 |
Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:79323 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Episodic hyperhidrosis, Hyperinsulinem... |
ORPHA:276575 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Proteinuria, Growth delay, ... |
OMIM:618347 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... |
ORPHA:2237 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Cryptorchidis... |
OMIM:617575 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas |
ORPHA:2924 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... |
OMIM:615993 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Propionic Acidemia |
|
Hepatomegaly, Short stature, Hypoglycemia, Dehydration, Pancreatitis |
OMIM:606054 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Renal cyst |
OMIM:614870 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Dehydration |
ORPHA:79312 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Short stature, Hypothyroidism |
OMIM:275120 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Microvesicular hepatic steatosis, Dehydration, Recurrent hypoglycemia, Impaired glu... |
OMIM:212140 |
Mahvash Disease |
|
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... |
OMIM:619290 |
Precocious Puberty, Central, 1 |
|
Short stature, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Elev... |
OMIM:176400 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Pancreatitis, Dehydration |
OMIM:251000 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Dehydration |
ORPHA:28 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Crypto... |
ORPHA:90791 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Short stature, Neonatal insulin-dependent diabetes mellitus, Jaundice, Dehydration,... |
ORPHA:1667 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274400 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati... |
OMIM:609069 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Dehydration, Glycosuria, Intrauterine growth retard... |
ORPHA:99885 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Postna... |
OMIM:616113 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, Nephrotic syndrome, Membranou... |
OMIM:618999 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Diabetes mellitus, Short stature, Renal insufficiency, Renal hypopl... |
ORPHA:261265 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Dehydration |
ORPHA:289504 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutar... |
ORPHA:26791 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71526 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Dehydration |
ORPHA:27 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, R... |
OMIM:137920 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Rhyns Syndrome |
|
Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia |
OMIM:604484 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... |
ORPHA:157 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Abnormal response to glucagon stimulation test... |
ORPHA:79644 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Pendred Syndrome |
|
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter |
ORPHA:705 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis m... |
ORPHA:791 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
C Syndrome |
|
Hepatomegaly, Short stature, Renal cortical cysts, Cryptorchidism |
OMIM:211750 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Hepatosplenomegaly, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exo... |
OMIM:615952 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism, Dehydration, ... |
ORPHA:171876 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:151660 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin resi... |
ORPHA:2298 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Cystinosis |
|
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Dehydration, Delayed puberty,... |
ORPHA:213 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia |
OMIM:175700 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism, Jaundice, Short stature |
ORPHA:2349 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Hypoglycemia, Nonketoti... |
OMIM:608836 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Hepatomegaly, Dehydration |
OMIM:560000 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... |
ORPHA:465508 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Cryptorchidism, Renal hypoplasia, Growth delay, Recurrent hypoglycemia, Delayed pu... |
OMIM:616817 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal growth retardation, ... |
ORPHA:440713 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... |
OMIM:113650 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Polycystic kidney dysplasia |
OMIM:263210 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Crypt... |
OMIM:614736 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi... |
OMIM:214110 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Growth delay, ... |
ORPHA:2088 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias |
ORPHA:1692 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy... |
OMIM:610600 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Short stature, Hypohidrosis, Nephropathy, Hypothyroidism |
ORPHA:1563 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Short stature, Hypospadias, Splenomegaly, Abnormality of the pancreas, Jaundice, Ch... |
OMIM:222470 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Hepatic calcification,... |
ORPHA:228308 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Intrauterine growth retardation, Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dys... |
OMIM:614091 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Growth delay, Hypothyroid... |
OMIM:222300 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Insulin resistance, Dehydration |
OMIM:214150 |
Potocki-Shaffer Syndrome |
|
Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty |
ORPHA:52022 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Hypospadias, Short stature, Supernumerary nipple, Rhizomelic leg shortening,... |
ORPHA:397715 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Li-Campeau Syndrome |
|
Cryptorchidism, Micropenis, Short stature, Hypothyroidism |
OMIM:619189 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pan... |
ORPHA:456312 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Necrotizing Enterocolitis |
|
Edema, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia, Ascites |
ORPHA:391673 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Dehydration, Elevated se... |
ORPHA:556030 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Gro... |
OMIM:613027 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... |
OMIM:240300 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abnormality of... |
ORPHA:480520 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased thyroid-stimulating hormone level, Severe postnatal growth retardation, Hypothyroidism,... |
OMIM:275100 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Renal insufficiency, Renal cyst, Growth delay, Nephrocalcinosis, 3-Methylgluta... |
ORPHA:445038 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Jaundice, Splenomegal... |
OMIM:614866 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fanconi syndrome, Pancreatic islet-cell hyperpla... |
ORPHA:263455 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Athyreosis |
|
Growth delay, Hypothyroidism, Short stature, Thyroid agenesis |
ORPHA:95713 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Hawkinsinuria |
|
Hypothyroidism, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
ORPHA:2118 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Hyperglycemia |
OMIM:615986 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Hyperglycemia, Hypoglycemia, Dehydration |
OMIM:615453 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, A... |
OMIM:214100 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... |
ORPHA:730 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism |
ORPHA:752 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Short stature, Maturity-onset diabetes of the young... |
ORPHA:96149 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypospadias, Hypoglycemia, Postnatal growth retardation, Cryptorchidism, Microphallus, Intrauteri... |
ORPHA:397590 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant diabete... |
OMIM:248370 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Edema, Dehydration, Hyperglycemia |
ORPHA:134 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Dehydration, Growth delay, Intrauterine growth retardation, Hepatic s... |
OMIM:616271 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k... |
ORPHA:261290 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... |
OMIM:167800 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Odontochondrodysplasia 1 |
|
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Central hypothyroidism, Growth delay, Dehydration, Primary hypothyroidism, Steatorrhea |
ORPHA:95427 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Short stature, Hypothyroidism |
OMIM:618625 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Birth length less than 3rd percentile, O... |
OMIM:269880 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Gro... |
OMIM:256300 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po... |
ORPHA:314588 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... |
ORPHA:2126 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Short stature, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, ... |
ORPHA:769 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation... |
OMIM:616263 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g... |
ORPHA:699 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Mild short stature, In... |
OMIM:614613 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular cirrhosis, Dehydration, Steatorr... |
OMIM:557000 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hematuria, Ren... |
OMIM:243910 |
Thyroid Hypoplasia |
|
Short stature, Jaundice, Growth delay, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Alstrom Syndrome |
|
Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Short stature, Decreased response to... |
OMIM:203800 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... |
ORPHA:79230 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Renal steatosis, Hepatic ste... |
ORPHA:412 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulation in... |
ORPHA:20 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Oligohydramnios,... |
OMIM:260370 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... |
ORPHA:289548 |
Syndromic Diarrhea |
|
Hepatomegaly, Short stature, Splenomegaly, Renal hypoplasia, Abnormality of the liver, Hypoplasia... |
ORPHA:84064 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... |
OMIM:613390 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi... |
ORPHA:412057 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Short stature, Hepatosplenomegaly, Hypopituitarism, Hypothyroidism |
OMIM:619013 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Nephrogenic diabetes insipidus... |
OMIM:208085 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... |
OMIM:612462 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypogonadism, Hypothy... |
ORPHA:254913 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Growth delay, Glucose into... |
OMIM:608612 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydration |
OMIM:264350 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Cholestasis, Neonatal death, Decreased circulating T4 concentration... |
OMIM:608104 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Growth delay, Type II diabetes mellitus, Hypot... |
ORPHA:99812 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Renal insufficiency, Recurrent urinary tract infections, Protei... |
OMIM:619487 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:612885 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal renal morphology, ... |
OMIM:609053 |
Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Dehydration |
ORPHA:33355 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, Renal cyst |
OMIM:605231 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypogly... |
ORPHA:79237 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Growth delay, Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congeni... |
OMIM:601427 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Ddost-Cdg |
|
Primary hypothyroidism, Hepatic steatosis, Nephrotic range proteinuria, Short stature |
ORPHA:300536 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Intrauterine growth retardation, Congenital hypothyroidism |
ORPHA:96183 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Perineal hypospa... |
ORPHA:66634 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Corticosterone Methyloxidase Type I Deficiency |
|
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level, Dehydra... |
OMIM:203400 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, I... |
OMIM:177735 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism, Hypoplasia of penis, Short stature |
ORPHA:2491 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Hypothyroidism, Abnormality of the kidney |
ORPHA:391372 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata... |
ORPHA:95715 |
Pseudohypoparathyroidism, Type Ia |
|
Short stature, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogona... |
OMIM:103580 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... |
ORPHA:90673 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Cryptorchidism, Renal hypoplasia, Hypoth... |
ORPHA:85321 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Autosomal Agammaglobulinemia |
|
Hepatitis, Dehydration |
ORPHA:33110 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:613970 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyr... |
OMIM:614450 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Insu... |
OMIM:616541 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Short stature, Renal agenesis, Maternal diabetes, Hypothyroidism, Intrauteri... |
ORPHA:280200 |
Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Dehydration |
OMIM:143880 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation... |
ORPHA:391408 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:263520 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Dehydration |
ORPHA:178029 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... |
OMIM:602579 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Cryptorchidism, Hypothyroidism |
OMIM:619908 |
Developmental And Epileptic Encephalopathy 90 |
|
Fetal pyelectasis, Hypothyroidism |
OMIM:301058 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Dehydration |
OMIM:620126 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... |
ORPHA:805 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, Cryptor... |
ORPHA:96191 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Increased circulating renin level, Dehydration |
OMIM:620125 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Glomerulonephritis, Hypothyroidism, Hepatitis |
OMIM:304790 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, ... |
ORPHA:231226 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Dend Syndrome |
|
Hyperglycemia, Dehydration |
ORPHA:79134 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1882 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615109 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Short stature, Proteinuria, Hypoglycemia, Hypothyroidism, Delayed puberty, Hepatoce... |
ORPHA:79259 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Short stature |
ORPHA:589618 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Renal cyst, Hepatic cysts |
OMIM:263630 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc... |
OMIM:613986 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Orofaciodigital Syndrome I |
|
Short stature, Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney d... |
OMIM:311200 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality of the thyroi... |
ORPHA:77296 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Short stature, Hypothyroidism |
OMIM:607906 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Short stature, Delayed puberty |
ORPHA:2994 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Abnormal renal morphology, Short stature |
OMIM:610883 |
Familial Cold Urticaria |
|
Dehydration, Hyperhidrosis |
ORPHA:47045 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Dehydration, Steatorrhea |
ORPHA:92050 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Hypothyroidism |
OMIM:619851 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... |
OMIM:619609 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Short stature, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopo... |
OMIM:618440 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Short stature, Decreased response to growth hormone... |
ORPHA:363528 |
Renal Hypoplasia, Bilateral |
|
Short stature, Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst,... |
ORPHA:97362 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Dehydration, Premature adrenarche, S... |
ORPHA:90794 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Hyperthyroidism, Goiter |
OMIM:231690 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Intrahepatic cholestasis, Fasting hypoglycemia, Glyco... |
OMIM:227810 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull... |
OMIM:216360 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... |
OMIM:614922 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Polyhydramnios |
ORPHA:1203 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... |
OMIM:267010 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Short stature, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I ... |
OMIM:613385 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Nephrotic syndrome, Hypothyroidism |
ORPHA:39041 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... |
ORPHA:1318 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Abno... |
ORPHA:400 |
Thyroid Ectopia |
|
Short stature, Abnormality of the thyroid gland, Jaundice, Growth delay, Ectopic thyroid, Hypothy... |
ORPHA:95712 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice, Hepat... |
ORPHA:231214 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Dehydration |
ORPHA:230 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Intrauterine growth retardati... |
OMIM:600001 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Short stature, Proteinuria, Hypoglycemia, Splenomegaly, Delaye... |
OMIM:232220 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Hypohidrosis |
OMIM:606232 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Jaundice, Cholestas... |
ORPHA:79303 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Intrauterine growth retardation, Hypothyroidism, Hypospadias |
ORPHA:1923 |
4H Leukodystrophy |
|
Short stature, Abnormality of thyroid physiology, Decreased response to growth hormone stimulatio... |
ORPHA:289494 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... |
ORPHA:2470 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Dehydration, Growth delay, Hyperglycemia |
ORPHA:3008 |
Lig4 Syndrome |
|
Cryptorchidism, Micropenis, Hypothyroidism, Type II diabetes mellitus |
OMIM:606593 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Prolon... |
ORPHA:226313 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Dehydration |
OMIM:602722 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Proteinuria,... |
ORPHA:550 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteroni... |
OMIM:214700 |
Allan-Herndon-Dudley Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... |
OMIM:619234 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Dehydration, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin secretion, Cholecystitis, Hypoth... |
ORPHA:69665 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, Short stature, Hepatosplenomegaly |
OMIM:619750 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Hyperglycemia, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:615812 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Hypoglycemia, Nephrocalcinosis, Intrauterine growth retardation, Hypothyroidism |
OMIM:618005 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Nephrotic syndr... |
ORPHA:110 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Hyperinsulinemi... |
ORPHA:508 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Nephrotic syndrome, Hypothyroidism, Intrauterine growth retardation |
OMIM:617713 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Short stature, Proteinuria, P... |
OMIM:208500 |
Shigellosis |
|
Hypoglycemia, Peritonitis, Cholestasis, Dehydration, Splenic abscess |
ORPHA:810 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Renal cyst, Type I... |
ORPHA:488618 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Immunodeficiency 102 |
|
Hepatomegaly, Hypothyroidism, Nodular regenerative hyperplasia of liver |
OMIM:301082 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Pheochromocytoma, Hepatic heman... |
OMIM:193300 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... |
ORPHA:30391 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, Hepatosplenomegaly, Cirr... |
ORPHA:228426 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Pancrea... |
OMIM:219700 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
B4Galt1-Cdg |
|
Splenomegaly, Hepatomegaly, Hypothyroidism |
ORPHA:79332 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypothyroidism |
OMIM:618829 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Intrauterine growt... |
OMIM:601346 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Re... |
ORPHA:1834 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc... |
ORPHA:71212 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Hyperhidrosis, Mucopolysacchariduria, Hypothyroidism |
ORPHA:349 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Adrenal calcification, Hypersplenism, Microvesicular hepatic steatosis, Jau... |
ORPHA:275761 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Growth delay, Adrenal insufficiency, Hypogonadism, Elevated hepatic iron conc... |
ORPHA:300298 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Polycysti... |
ORPHA:528 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Short stature, Hypospadias, Cryptorchidism, Splenomegaly, Re... |
ORPHA:567 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:99880 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Hypothyroidism, Intrauterine growth retardation,... |
ORPHA:254346 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
Congenital Short Bowel Syndrome |
|
Dehydration, Steatorrhea |
OMIM:615237 |
Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn... |
OMIM:200980 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Dehydration |
OMIM:251110 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Dehydration, Hypohidrosis, Growth d... |
OMIM:219800 |
Ogden Syndrome |
|
Global glomerulosclerosis, Short stature, Maternal diabetes, Postnatal growth retardation, Crypto... |
OMIM:300855 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... |
OMIM:124000 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism |
ORPHA:88643 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Short stature, Renal cyst |
ORPHA:2031 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism |
ORPHA:3282 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:261229 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:143 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Jaundice, Hydrops fetalis, Dehydration, Growth delay, Intrauterine growth retardation |
ORPHA:79282 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hypothyroidism, Hepatom... |
ORPHA:116 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Short stature, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hypothyr... |
ORPHA:96169 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Martin-Probst Syndrome |
|
Renal insufficiency, Short stature, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi... |
OMIM:300519 |
Smith-Magenis Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Abnormal ... |
ORPHA:819 |
Lamellar Ichthyosis |
|
Short stature, Dehydration |
ORPHA:313 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... |
ORPHA:293987 |
Meckel Syndrome, Type 10 |
|
Micropenis, Renal cyst, Hypospadias, Malformation of the hepatic ductal plate |
OMIM:614175 |
Scorpion Envenomation |
|
Acute pancreatitis, Edema, Hyperhidrosis, Glycosuria, Hyperglycemia, Pulmonary edema |
ORPHA:466677 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Short stature, Hypospadias, Abnorma... |
ORPHA:209905 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Glandular hypospadias, Growth delay, Hypothyroidism, Breast hypoplasia |
ORPHA:1439 |
Microsporidiosis |
|
Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonitis, Biliar... |
ORPHA:2552 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia... |
ORPHA:398079 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Abnormality of thyroid physiology, Proteinuria, Minimal change glomerulonephritis,... |
ORPHA:1830 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Diabetes mellitus, Hypothyroidism |
ORPHA:98673 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Diabetes mellitus, Impaired glucose tolerance, Elevated... |
OMIM:617253 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Short sta... |
OMIM:146510 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Short stature, Diabetes insipidus, Splenomegaly, Prolonged neonatal jaundice, Hypot... |
OMIM:225750 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia |
OMIM:601005 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Bile duct proliferation, Renal cyst |
OMIM:611134 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... |
ORPHA:2970 |
Atelis Syndrome 1 |
|
Hypothyroidism |
OMIM:620184 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Femoral-Facial Syndrome |
|
Renal agenesis, Short stature, Maternal diabetes, Abnormal renal collecting system morphology, Cr... |
OMIM:134780 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Dehydration |
OMIM:251100 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Proteinuria, Hypothyroidism, Renal cyst, Nephrotic ... |
OMIM:212065 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Ectopic posterior pituitary, Decreased circulating cortisol level, Uni... |
OMIM:620305 |
Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Short stature |
OMIM:600430 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, 3-Methylglutaconic aciduria, Myoglobinuria, Hypothyroidism |
OMIM:251900 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia |
OMIM:102500 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism |
ORPHA:352530 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Short stature, Hypertriglyceridemia, Abnormal circulating leptin concentration... |
ORPHA:79474 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin sy... |
OMIM:601678 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
Spondyloenchondrodysplasia |
|
Short stature, Decreased response to growth hormone stimulation test, Proteinuria, Chronic kidney... |
ORPHA:1855 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology, Multiple ren... |
ORPHA:1190 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... |
ORPHA:2905 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... |
OMIM:612284 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:98754 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Unilateral renal agenesis, Cryptorchidism, Elev... |
OMIM:101800 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Pancreatitis, Dehydration |
ORPHA:90038 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Thyroiditis, Growth delay, Type I diabetes mellitus, Hypothyroidism |
OMIM:614700 |
Roberts Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Long penis, Severe intrauterine growth retardation,... |
ORPHA:3103 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Hepatosplenomegaly |
OMIM:606367 |
Osteopetrosis, Autosomal Recessive 9 |
|
Postnatal growth retardation, Stage 3 chronic kidney disease, Hyperparathyroidism |
OMIM:620366 |
Floating-Harbor Syndrome |
|
Short stature, Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the... |
ORPHA:2044 |
Netherton Syndrome |
|
Short stature, Dehydration |
ORPHA:634 |
Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Maternal diabetes, Postnatal growth retardation, Cryptorchidism, Renal... |
ORPHA:3404 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Portal hypertension, Cryptorchidism, Renal hypoplasia, Macronodular cirrhosis, ... |
OMIM:620005 |
Cholera |
|
Hypoglycemia, Dehydration |
ORPHA:173 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:98793 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:177904 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Hepatitis, Thyroiditis, Tubul... |
ORPHA:37042 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Growth delay, Renal insufficiency, Hypothyroidism, Mild proteinuria |
OMIM:619147 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... |
ORPHA:177901 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst, Thyroid adenoma |
OMIM:617100 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism |
OMIM:617796 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test, Short ... |
OMIM:618922 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma, Hyp... |
OMIM:191100 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Monosomy 18P |
|
Hypothyroidism, Short stature |
ORPHA:1598 |
Whipple Disease |
|
Splenomegaly, Hepatomegaly, Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Growth delay, Hepatomegaly, Hypothyroidism |
OMIM:226300 |
Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Congenital h... |
ORPHA:2255 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Growth delay, S... |
OMIM:614114 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
Verheij Syndrome |
|
Short stature, Renal agenesis, Renal hypoplasia, Renal cyst, Growth delay, Intrauterine growth re... |
OMIM:615583 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ... |
ORPHA:562 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Hypothyroidism |
ORPHA:1812 |
Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Growth delay, Delayed puberty, Hypo... |
OMIM:614162 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Short stature, Hypospadias, Splenomegaly, Hepatosplenomegaly, Micropenis, Hypothyro... |
OMIM:613673 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Short stature |
OMIM:617763 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Glucose intolerance, Abnormality of the liver, Hypothyroidism... |
ORPHA:254892 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Disproportionate short stature, Renal hypoplasia, Renal cyst, Severe postnatal gr... |
OMIM:210710 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hypothyroidism, Cholestasis, Aminoaciduria, Hepatic fibrosis, Cirrhosis, Hepatic st... |
OMIM:615486 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism |
ORPHA:449291 |
Down Syndrome |
|
Hypothyroidism, Type II diabetes mellitus, Renal hypoplasia/aplasia |
ORPHA:870 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Malformation of the hepatic ductal plate, Portal hyp... |
ORPHA:84081 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, Xerostomia, Absence of pub... |
ORPHA:398069 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Seckel Syndrome 7 |
|
Intrauterine growth retardation, Severe short stature, Central hypothyroidism |
OMIM:614851 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Premature thelarche, Myoglobinuria, Hypothyroidism, Premature pubarche |
OMIM:616878 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short stature, Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney,... |
ORPHA:166035 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... |
ORPHA:739 |
Cenani-Lenz Syndrome |
|
Crossed fused renal ectopia, Hypothyroidism, Renal hypoplasia/aplasia |
ORPHA:3258 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Abnormality of the thyroid gland, Pituitar... |
ORPHA:733 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... |
OMIM:608022 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, G... |
ORPHA:247691 |
Allan-Herndon-Dudley Syndrome |
|
Cryptorchidism, Short stature, Abnormality of thyroid physiology, Prolonged neonatal jaundice |
ORPHA:59 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Unilateral cryptorchidism, Short stature, Hypospadias, Abnormality of the kidney, B... |
ORPHA:1772 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Short stature, Cryptorchidism, Dehydration, Abnormal circulating calcium-pho... |
ORPHA:534 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism |
ORPHA:48377 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Abnormality of the kidney, Nephrolithiasis, Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Abnormality of thyroid physiology, Dehydration, Glycosuria |
ORPHA:411629 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Diabetes insipidus, Hypertonic dehydration |
OMIM:304800 |
Chromosome 1P35 Deletion Syndrome |
|
Cryptorchidism, Congenital hypothyroidism, Short stature, Intrauterine growth retardation |
OMIM:617930 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypothyroidism, Hypospadias |
OMIM:603736 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Short stature, Hypertonic dehydration |
OMIM:125800 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism |
ORPHA:2519 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Short stature, Hypospadias, Cryptorchidism, Jaundice,... |
ORPHA:912 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Orchitis, Jaundice, Dehydration, Pancreatitis |
ORPHA:99826 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Short stature, Abnormality of the endocrine system, Functional abnormality of the bladder, Hepati... |
ORPHA:391487 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Dehy... |
OMIM:607364 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Aplasia of the thymus, Atypical or prolonged hepatitis, Thyro... |
ORPHA:83471 |
Monosomy 18Q |
|
Short stature, Bilateral cryptorchidism, Growth delay, Micropenis, Hypothyroidism, Secondary grow... |
ORPHA:1600 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Hyperglycemia, Short stature, Decreased response to growth hormone stimulation test |
ORPHA:444077 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Renal cell carcinoma, Thyroid carcinoma, ... |
ORPHA:276399 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Abnormalit... |
ORPHA:449432 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:293939 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intrauterine growth retardation |
ORPHA:73246 |
Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism, Urinary incontinence |
OMIM:300623 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Short stature, Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Gro... |
OMIM:300998 |
Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Cholelithiasis, Hypothyr... |
OMIM:618268 |
Trisomy 13 |
|
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... |
ORPHA:3378 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Crypt... |
ORPHA:488632 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Polycystic ovaries,... |
OMIM:608594 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal bladder morphology, Cryptorchidism, Vesicoureteral reflux, Intrauterine growth retardati... |
ORPHA:453499 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... |
ORPHA:464329 |
Myasthenia Gravis |
|
Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, Glycosuria... |
ORPHA:589 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothy... |
OMIM:618183 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ... |
ORPHA:1454 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Intrauterine growth retardation |
ORPHA:2115 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Short stature, Hypospadias, Nephroblastoma, Postnatal growth retard... |
OMIM:257300 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Short stature, Hypospadias, Abnormality of the kidney, Abnormality of the sp... |
ORPHA:1606 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst, Thyroid adenoma |
ORPHA:480536 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Hypoglycemia, Dehydration, Glycosuria |
ORPHA:3337 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Postnatal growth retardation, Cryptorchidism, Long penis, Biliary ... |
OMIM:268300 |
Mogs-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiuretic hormone secretion,... |
ORPHA:79330 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Supernumerary nipple, Crypt... |
ORPHA:261494 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Short stature, Cholangitis, Rhizomelia, Pancreatic cysts, Con... |
OMIM:266920 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Short stature, Decreased response to growth hormone stimulation test, Renal cyst |
OMIM:617260 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... |
ORPHA:3047 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Dehydration, Growth delay, Glycosuria |
ORPHA:47159 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Adiposis Dolorosa |
|
Hypothyroidism, Xerostomia |
ORPHA:36397 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Hyperinsulinemia, Nephrolithiasis, Polycystic ovaries, Insulin-resistant ... |
OMIM:269700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Cutis Marmorata Telangiectatica Congenita |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypothyroidism, Displacement of th... |
ORPHA:1556 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia |
OMIM:613327 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2479 |
Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... |
ORPHA:48818 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... |
ORPHA:268261 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Hypoglycemia, Ketonuria, Hypoglycemic seizures |
ORPHA:480864 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia |
OMIM:615989 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... |
OMIM:614527 |
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 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Short stature, Polyhydramnios, Nephrogenic diabetes insipidus, Growth ... |
ORPHA:223 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Short stature, Growth delay, Intrauterine growth retardation, Nephr... |
ORPHA:1052 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Diabetes mellitus, Short stature, Hypospadias, Portal hypertension, Urethrovaginal ... |
OMIM:243800 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Central hypothyroidism |
ORPHA:514 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... |
ORPHA:49 |
Lymphatic Malformation 6 |
|
Hydrocele testis, Splenomegaly, Short stature, Hypothyroidism |
OMIM:616843 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Primary adrenal insufficiency, Cholestasis, Renal cyst, Bile duct pro... |
OMIM:261515 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital ... |
ORPHA:369837 |
Pseudoxanthoma Elasticum |
|
Nephrocalcinosis, Hypothyroidism |
ORPHA:758 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Birth length less than 3rd pe... |
ORPHA:464311 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Short stature, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Intrauterine growt... |
OMIM:616975 |
Alternating Hemiplegia Of Childhood |
|
Dehydration, Hyperhidrosis |
ORPHA:2131 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Short stature, Abnormality of thyroid physiology, Hydronephrosis, Unilateral breast hypoplasia, R... |
OMIM:300968 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Short stature, Tubulointerstitial fibrosis |
OMIM:607944 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Abnormal liver l... |
ORPHA:99776 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Nephrotic syndrome, Intrauterine growth re... |
OMIM:615846 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Gr... |
ORPHA:18 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Postnatal growth retardation, Steroid-dependent nephrotic syndrome, Urinary incontinence, Central... |
OMIM:300912 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryptorchidism, Ren... |
OMIM:229850 |
Alexander Disease |
|
Precocious puberty, Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:58 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Short stature, Decreased circulating ... |
OMIM:188400 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Short stature, Precocious puberty in females, Testicular neoplasm, Elevated circ... |
ORPHA:249 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Short stature, Hepatosplenomegaly, Prolonged neonatal jaundice, Micropenis, Hy... |
ORPHA:51 |
Braddock-Carey Syndrome 1 |
|
Growth delay, Multicystic kidney dysplasia |
OMIM:619980 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen... |
ORPHA:564 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Ren... |
OMIM:118450 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Short stature, Renal insufficiency, Portal... |
OMIM:194050 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... |
OMIM:620186 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication, Hypothyroidism |
ORPHA:457212 |
Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteron... |
OMIM:241200 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis, Cryptorchid... |
ORPHA:464306 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Vesicoureteral reflux, Hypothy... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Vesicoureteral reflux, Hypothy... |
ORPHA:352665 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Nephroblastoma, Supernumerary nipple |
ORPHA:1001 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... |
ORPHA:89938 |
Neuroleptic Malignant Syndrome |
|
Dehydration, Hyperhidrosis |
ORPHA:94093 |
Trisomy 1Q |
|
Cryptorchidism, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Growth delay, Hydronephrosis, Hypogonadism, I... |
ORPHA:261349 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Stüve-Wiedemann Syndrome |
|
Short stature, Hyperhidrosis, Hypohidrosis, Ectopic thyroid, Intrauterine growth retardation, Hyp... |
ORPHA:3206 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst... |
ORPHA:798 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Oligomeganephronia |
|
Dehydration |
ORPHA:2260 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia... |
ORPHA:373 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morpholog... |
OMIM:122470 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Abdominal situs inversus, Hypothyroidism, Proportionate short stature |
ORPHA:2108 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... |
OMIM:618454 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypto... |
ORPHA:2473 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Hyperthyroidism, Short stature, Increased circulating prolactin concentration |
OMIM:617675 |
Abetalipoproteinemia |
|
Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
ORPHA:14 |
Neuhauser Syndrome |
|
Short stature, Primary hypothyroidism |
OMIM:249310 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd... |
ORPHA:1297 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hydronephrosis, Intrauteri... |
ORPHA:506358 |
Joubert Syndrome 14 |
|
Growth delay, Renal cyst |
OMIM:614424 |
White-Kernohan Syndrome |
|
Hydroureter, Hypothyroidism, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Rothmund-Thomson Syndrome Type 1 |
|
Short stature, Cryptorchidism, Growth delay, Hypogonadism, Hypothyroidism |
ORPHA:221008 |
Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Renal hypoplasia, Periportal fibrosis, Hypoplastic nipples, Neonatal ... |
OMIM:269860 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pancreatic cysts, Abnormality of ... |
ORPHA:2750 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Abnormality of the kidney, ... |
ORPHA:857 |
Williams Syndrome |
|
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... |
ORPHA:904 |
Genitopatellar Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Short stature, Hydronephrosis |
ORPHA:85201 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth |
OMIM:616300 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Growth delay, Hyperthyroidism, Short stature, Increased circulating prolactin concentration |
ORPHA:502423 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Pollakisuria, Urinary bladder sphincter dysfunction, Hypothyroidism |
ORPHA:93256 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Severe short stature, H... |
ORPHA:2461 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Portal hypertension, Enla... |
ORPHA:797 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Growth delay, Urogenital sinus anomaly, Primary hypot... |
ORPHA:96176 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... |
ORPHA:99226 |
Turner Syndrome |
|
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased circulating ... |
ORPHA:881 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... |
ORPHA:2538 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormali... |
ORPHA:438213 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Rhizomelia, Short stature, Hypospadias, Renal... |
ORPHA:709 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Short stature, Cryptorchidism, Growth delay, Intrauterine growth re... |
ORPHA:2308 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short stature, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Short stature, Hy... |
OMIM:270400 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intraut... |
OMIM:618460 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Rhizomelia, Splenomegaly, Biliary ... |
OMIM:613610 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology |
ORPHA:563 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Scleromyxedema |
|
Abnormality of thyroid physiology, Abnormality of the kidney |
ORPHA:167635 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Multicystic kidney dysplasia, Short stature, Hyposp... |
ORPHA:1596 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Hypothyroidism, Prolonged neonatal jaundice |
ORPHA:909 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia |
ORPHA:3301 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Congenital hypothyroidism, Growth delay, Ureteropelvic junction obstruction, ... |
OMIM:616973 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Intrauterine growth retardation |
ORPHA:2008 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Cryptorchidism, R... |
OMIM:107480 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2059 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts, Thyroid adenoma |
ORPHA:220460 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Short stature, Premature thelarc... |
OMIM:147920 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Short stature, Cryptorchidism, Horseshoe kidney, Hypothyroidism |
OMIM:619325 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Trisomy 10P |
|
Absent gallbladder, Abnormality of the kidney, Growth delay, Multiple renal cysts, Intrauterine g... |
ORPHA:171929 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen,... |
ORPHA:991 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Palmoplantar hyperhidrosis, Congenital hypothyroidism |
OMIM:617527 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Alobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... |
ORPHA:220386 |
Microphthalmia, Syndromic 2 |
|
Short stature, Hypospadias, Cryptorchidism, Adrenal insufficiency, Hypothyroidism |
OMIM:300166 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Rhizomelia, Short stature, Hypospadias, Renal ... |
ORPHA:818 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Hypothyroidism, Hydronephrosis |
OMIM:606170 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Anterior hypopituitari... |
OMIM:607932 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Congenital hypothyroidism, Growth delay, Hypothyroidism |
OMIM:607872 |
Hydatidiform Mole |
|
Hyperthyroidism |
ORPHA:99927 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism |
OMIM:271510 |
Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Hypospadias, Abnormal circulating thyroid hormone concentrati... |
OMIM:619991 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Short stature, Hypospadias, Splenomegaly, Multiple renal cysts, Delayed puberty |
ORPHA:955 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Primrose Syndrome |
|
Diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Crypt... |
OMIM:259050 |
Bilateral Polymicrogyria |
|
Central hypothyroidism |
ORPHA:268940 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... |
ORPHA:79500 |
Down Syndrome |
|
Hypothyroidism, Short stature |
OMIM:190685 |
Cerebrocostomandibular Syndrome |
|
Postnatal growth retardation, Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... |
OMIM:312870 |
Sponastrime Dysplasia |
|
Rhizomelia, Hypospadias, Precocious puberty, Disproportionate short-limb short stature, Intrauter... |
ORPHA:93357 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... |
ORPHA:93271 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Short stature, Cryptorchidism, Micropenis, Webbed penis, Decreased ... |
ORPHA:97360 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Disproportionate short-limb sh... |
ORPHA:1507 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice... |
ORPHA:3310 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cryptorchidism, Decreased serum testosterone concentration, Hypospadias, Renal cyst |
ORPHA:495875 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Cerebrocostomandibular Syndrome |
|
Intrauterine growth retardation, Multicystic kidney dysplasia, Short stature |
ORPHA:1393 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Short stature, Hypospadias, Unilateral renal agenesis, Renal agenes... |
OMIM:308205 |
Pmm2-Cdg |
|
Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, In... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
|
Hemolytic-uremic syndrome, Recurrent urinary tract infections, Glomerulonephritis, Hyperinsulinem... |
ORPHA:2968 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Hypospadias, Renal insufficienc... |
ORPHA:199 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Spondylocarpotarsal Synostosis Syndrome |
|
Disproportionate short-trunk short stature, Renal cyst |
OMIM:272460 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hyperthyroidism, Short stature, Decreased response to growth ... |
ORPHA:3455 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... |
ORPHA:744 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Short stature |
OMIM:300373 |
Branchiooculofacial Syndrome |
|
Hypospadias, Renal agenesis, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:113620 |
C Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe ... |
ORPHA:1308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Decreased testicular size |
OMIM:615287 |
Viss Syndrome |
|
Hypothyroidism, Short stature, Hydronephrosis |
OMIM:619472 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal hypoplasia,... |
ORPHA:2052 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Short stature, Urinary incontinence, Hypospadias, Abnormality of th... |
ORPHA:2152 |
Pallister-Killian Syndrome |
|
Anhidrosis, Rhizomelia, Hypospadias, Supernumerary nipple, Mesomelic/rhizomelic limb shortening, ... |
OMIM:601803 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Short stature, Urinary incontinence, Hypospadias, Asplenia, Cryptor... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Short stature, Urinary incontinence, Hypospadias, Asplenia, Cryptor... |
ORPHA:261552 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... |
OMIM:164210 |