Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Hyperglycemia, Gliosis |
OMIM:604484 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri... |
OMIM:604367 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Intrauterine growth retardation |
OMIM:601410 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Hyperinsulinemia, Cholestasis, Ovarian cyst, He... |
OMIM:246200 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsuli... |
OMIM:262190 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Short stature |
ORPHA:329249 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Glycogen Storage Disease Vi |
|
Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:232700 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology |
ORPHA:217260 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia |
OMIM:175700 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati... |
OMIM:609069 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Moderate postnatal growth retarda... |
ORPHA:69076 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Short stature |
OMIM:312080 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Irregular menstruation |
OMIM:615986 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating leptin concentration, Enlarged polycystic ovaries, Insulin... |
ORPHA:2298 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Birth length less than 3rd percentile, G... |
OMIM:269880 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Growth del... |
ORPHA:2088 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal growth retardation, ... |
ORPHA:440713 |
Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Gliosis, Central diabetes insipidus |
OMIM:125700 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Cryptorchidism, Abnormal anterior horn cell morphology, N... |
OMIM:611890 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Intrauterine growth retardation, Hyperg... |
ORPHA:99885 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Short stature, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Short stature, Precocious ... |
ORPHA:769 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Pancreatic aplasia, Exocrine pancreatic i... |
OMIM:260370 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Extrahepatic biliary duct atresia, Intrauterine growth retardation... |
OMIM:601346 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hyperglycemia, Hypothyroidism |
ORPHA:90065 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct p... |
OMIM:613027 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Gliosis |
OMIM:615119 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis |
ORPHA:391673 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis |
OMIM:105550 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant diabete... |
OMIM:248370 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growth delay, Glucose intolerance, Hypergl... |
OMIM:608612 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Hepatic steatosis, Abnormal motor neuron morphology, Short stature |
ORPHA:52430 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recurrent hypoglycemia,... |
OMIM:124000 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Short stature, Polysplenia |
OMIM:211890 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Basal ganglia gliosis, Cerebellar gliosis, Growth delay, Hyperglycemia |
ORPHA:3008 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Gliosis, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Intrahepatic cholestasis, Fasting hypoglycemia, Glyco... |
OMIM:227810 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Hepatosplenomegaly |
ORPHA:2590 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Short stature, Postna... |
OMIM:616113 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gliosis |
OMIM:221770 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Intrauterine grow... |
ORPHA:2470 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology |
ORPHA:93941 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv... |
ORPHA:456312 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Intrauterine growth retardati... |
OMIM:600001 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Hyperinsulinemi... |
ORPHA:508 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Hypogonadotropic hypogonadism, Decreased circulating gona... |
OMIM:215470 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Gliosis, Short stature, Decreased response to growth hormone stimulati... |
ORPHA:457240 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Gliosis, Glycosuria, Neonatal death, Hepatic periportal nec... |
OMIM:231680 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Atypical Werner Syndrome |
|
Premature ovarian insufficiency, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting ... |
ORPHA:79474 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Hypothyroidism, H... |
OMIM:616263 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... |
ORPHA:293987 |
Scorpion Envenomation |
|
Glycosuria, Acute pancreatitis, Priapism, Hyperglycemia |
ORPHA:466677 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Short stature |
ORPHA:1305 |
Nephronophthisis 13 |
|
Pancreatic cysts, Growth delay, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Growth delay, Gliosis, Elevated hepatic iron concentration, Basal g... |
OMIM:614946 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature |
ORPHA:444077 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Gliosis,... |
OMIM:220111 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration |
ORPHA:48818 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... |
ORPHA:449432 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Delayed puberty, Hepatocellular c... |
OMIM:232220 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Hyperechogenic pancreas, Short stature, Exocrine pancreatic insufficiency |
OMIM:617941 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Bone Marrow Failure Syndrome 3 |
|
Short stature, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Intrauterine growth... |
OMIM:617052 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:276152 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Short stature, Abnormal up... |
OMIM:205100 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts, Jaundice, Bile du... |
OMIM:208500 |
Bohring-Opitz Syndrome |
|
Short stature, Supernumerary nipple, Mesomelic/rhizomelic limb shortening, Hyperechogenic pancrea... |
OMIM:605039 |
Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology |
ORPHA:1190 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Substantia nigra gliosis, Degeneration of anterior horn c... |
ORPHA:276244 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Short stature |
OMIM:615503 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Congen... |
OMIM:610199 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu... |
ORPHA:699 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Astrocytosis |
ORPHA:100070 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Short stature |
OMIM:601162 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ph... |
ORPHA:93111 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Rhizomelia |
OMIM:618162 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Intrauterine growth retardation, Annular pancreas, Short stature |
ORPHA:488642 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Growth delay, Neonatal death, Intrauterine... |
OMIM:618500 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Short stature, Pancreatic aplasia |
ORPHA:261265 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Exocrine pancreatic insufficiency |
OMIM:557000 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Short stature, Intrauterine growth retardation |
ORPHA:97297 |
Jacobsen Syndrome |
|
Cryptorchidism, Annular pancreas, Intrauterine growth retardation |
OMIM:147791 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Short stature, Pituitary adenoma, Biliary atresia, Growth delay, Annul... |
ORPHA:96149 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan... |
ORPHA:564 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Annular pancreas, Short stature |
OMIM:268400 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Annular pancreas, Short stature |
OMIM:227646 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidis... |
ORPHA:116 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cryptorchidism, Annular pancreas, Short stature, Intrauterine growth retardation |
OMIM:616975 |
Jacobsen Syndrome |
|
Short stature, Cryptorchidism, Growth delay, Intrauterine growth retardation, Annular pancreas |
ORPHA:2308 |
Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord, Inapp... |
ORPHA:79139 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis |
OMIM:263520 |
Fryns Syndrome |
|
Cryptorchidism, Stillbirth, Ectopic pancreatic tissue, Polysplenia |
OMIM:229850 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Trisomy 8P |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder |
ORPHA:264450 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts |
OMIM:193300 |
Feingold Syndrome 1 |
|
Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
1P36 Deletion Syndrome |
|
Short stature, Abnormality of the spleen, Cryptorchidism, Hypothyroidism, Abnormality of the live... |
ORPHA:1606 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Biliary atresia, Congenital hypothyroidism, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbla... |
ORPHA:2255 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Annular pancreas, Neonatal death |
OMIM:265380 |
Schinzel-Giedion Syndrome |
|
Hepatoblastoma, Annular pancreas, Streak ovary, Central hypothyroidism |
ORPHA:798 |