Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... |
OMIM:618883 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal enzyme/coenzyme activity |
OMIM:125460 |
Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... |
OMIM:203330 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:94090 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... |
ORPHA:280397 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... |
OMIM:146200 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Parathyroid agene... |
ORPHA:2239 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... |
OMIM:612526 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increased intraabdom... |
ORPHA:79085 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Increased nuchal translucency, Ascites |
ORPHA:295 |
Lipedema |
|
Lipedema, Edema |
OMIM:614103 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... |
ORPHA:435660 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... |
ORPHA:181393 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Acromesomelic Dysplasia 2A |
|
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... |
OMIM:200700 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Incre... |
OMIM:601198 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:94086 |
Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema... |
OMIM:620014 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... |
OMIM:601376 |
Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation |
OMIM:137580 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertriglyceridemia, L... |
OMIM:615238 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Disproportionate short-limb short stature, Short femur, Short humerus, Rhizome... |
OMIM:600121 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Hypertriglyc... |
ORPHA:435651 |
Achondrogenesis, Type Ib |
|
Neonatal short-limb short stature, Inguinal hernia, Respiratory insufficiency, Hydrops fetalis, P... |
OMIM:600972 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... |
ORPHA:314811 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Card... |
ORPHA:1909 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Developmental And Epileptic Encephalopathy 96 |
|
Neonatal respiratory distress, Hydrops fetalis, Small for gestational age |
OMIM:619340 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Hypoplasia of the capital femoral epiphysis, Rhizomelia, Genu valgum, Intrauterine growth retarda... |
OMIM:601560 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... |
OMIM:619598 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hyperphosphatemia, Hyper... |
OMIM:617994 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Pulmonic stenosis, Hydrops... |
ORPHA:2414 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity, Synophrys |
OMIM:300803 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Proportionate tall stature, I... |
ORPHA:528 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Dehydration, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth |
OMIM:215045 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Short stature, Polyhydramnios, Dilated cardiomyopath... |
OMIM:300580 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... |
ORPHA:314802 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Elevated circulating parathy... |
ORPHA:94089 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity |
ORPHA:791 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Hydrops fetalis, Maternal diabetes, Tachypnea, Large for gestational age, F... |
ORPHA:45452 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Decreased fetal movement, Pneumonia, Umbilical hernia |
OMIM:254120 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic... |
ORPHA:36913 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... |
OMIM:612462 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Neonatal death, Neonatal respiratory distress, Pulmonary arterial hype... |
OMIM:619003 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Small for gestational age, Abno... |
ORPHA:70589 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Hypogonadism, Insulin resistance, Diabe... |
OMIM:615381 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short stature, Short femur, Micrognathia, Wide capital... |
OMIM:147891 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Mahvash Disease |
|
Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Sialidosis Type 2 |
|
Inguinal hernia, Flexion contracture, Short stature, Hydrops fetalis, Pedal edema, Umbilical hern... |
ORPHA:87876 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Low-set, posteriorly rotated ears, ... |
ORPHA:163693 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diabetes mellitus |
OMIM:610717 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... |
OMIM:606407 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Growth dela... |
OMIM:262400 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Hypothyroidism, Ventricular septal defect, Patent foramen oval... |
OMIM:601005 |
Alpha-Heavy Chain Disease |
|
Ascites, Hypocalcemia |
ORPHA:100025 |
Mehmo Syndrome |
|
Inability to walk, Decreased response to growth hormone stimulation test, Small for gestational a... |
OMIM:300148 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Thick eyebrow |
OMIM:309585 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Primary hy... |
ORPHA:99879 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyr... |
OMIM:616113 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hydrops fetalis, Ascites |
OMIM:619433 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... |
OMIM:103580 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypothyroidism, Polyhydramnios, Hypertriglyceridemia, Anasarca, Ple... |
OMIM:618183 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Diabetes mellitus |
OMIM:144800 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance |
ORPHA:199276 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:2204 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Cellulitis, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insulin resistan... |
ORPHA:2348 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema, Diabetes mellitus |
OMIM:129840 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Nonimmune hydrops fetalis, Intrauterine growth retardation, Cardiomyopathy, ... |
OMIM:608540 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Maternal diabetes, Loss of facial adipose tissue, Hypertriglyceridemia, Insulin-resi... |
ORPHA:79083 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Hydrops fetalis, Premature birth, Ascites |
ORPHA:2123 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hyper... |
OMIM:612089 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Hypothyroidism, Mitral valve prolapse, Lymphedema |
ORPHA:1563 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Congenital hypoparathyroidis... |
OMIM:241410 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Fair hair, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly |
OMIM:269920 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Steatorrhea, Hypergonadotropic hypogonadism, Nonimmune hydrops fetalis, Tremor, Proteinur... |
OMIM:212065 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Eczema, Neonatal death, Camptodactyly, Pulmonary arterial hyper... |
OMIM:619751 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, L... |
ORPHA:1041 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Small for gestational age, Left ventricular hypertroph... |
OMIM:616733 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, H... |
ORPHA:453533 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Skin ulcer, Erythema |
ORPHA:2337 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Obesity |
ORPHA:85274 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Hydrops fetalis, Polyhydramnios, Edema, Arthrogryposis multiplex congenita, As... |
OMIM:232500 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Short stature, ... |
ORPHA:1988 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Calciphylaxis |
|
Secondary hyperparathyroidism, Hyperphosphatemia |
ORPHA:280062 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia |
ORPHA:2238 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity |
OMIM:614962 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertrigl... |
ORPHA:79086 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short stature, Small hand, Hypogonadotropic hypogonadism, Abnormal ulnar metaphysis morphology, P... |
ORPHA:177910 |
Hb Bart'S Hydrops Fetalis |
|
Oligohydramnios, Polyhydramnios, Preeclampsia, Hydrops fetalis |
ORPHA:163596 |
Primary Lipodystrophy |
|
Hyperlipidemia, Type II diabetes mellitus, Lipoatrophy, Lipodystrophy, Insulin resistance |
ORPHA:90970 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature |
ORPHA:2849 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea, ... |
OMIM:267450 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Edema, Abnormal respiratory sys... |
ORPHA:101028 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Large for gestational age, Polyphagia, Postaxial foot polydactyly, Hypogonadism, Obe... |
OMIM:617119 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia, Intrauterine growth retardation, Severe short stature |
OMIM:223500 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal ... |
OMIM:618815 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Decre... |
ORPHA:280365 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Meconium Aspiration Syndrome |
|
Premature rupture of membranes, Respiratory distress, Hypoxemia, Aspiration pneumonia, Postterm p... |
ORPHA:70588 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Achondrogenesis Type 1B |
|
Severe short stature, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Femoral hernia... |
ORPHA:93298 |
Achondrogenesis |
|
Severe short stature, Inguinal hernia, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnio... |
ORPHA:932 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Short stature, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Obesity |
OMIM:614947 |
Mulibrey Nanism |
|
Myocardial fibrosis, Short stature, Hydrops fetalis, Enamel hypoplasia, Growth delay, Ascites, In... |
OMIM:253250 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... |
OMIM:246200 |
Mental Retardation, X-Linked 91 |
|
Obesity, Low posterior hairline |
OMIM:300577 |
Hypervitaminosis A, Susceptibility To |
|
Ascites, Hypercalcemia |
OMIM:240150 |
Gcgr-Related Hyperglucagonemia |
|
Glucagonoma, Increased glucagon level |
ORPHA:438274 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Hydrops fetalis, Myocarditis, Polyhydramnios, Hepatitis, Pericar... |
ORPHA:292 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... |
OMIM:233805 |
Congenital Analbuminemia |
|
Hyperlipidemia, Facial edema, Hypoproteinemia, Small for gestational age, Increased alpha-globuli... |
ORPHA:86816 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypophosphatemia, Incr... |
ORPHA:157215 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:617343 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Congenital hypoparathyroidism, Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyeb... |
ORPHA:261304 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Sensorineural hearing impairment, Ataxia, Decreased body weight, Postnatal growth retardation, Dy... |
ORPHA:96180 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Gitelman Syndrome |
|
Polydipsia, Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Re... |
ORPHA:358 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Dysphagia,... |
OMIM:619565 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Short stature, Hernia of the abdominal wall, Low-set, posteriorly rotated ea... |
ORPHA:3055 |
Dermatofibrosarcoma Protuberans |
|
Skin ulcer, Erythema |
ORPHA:31112 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Pleural effusion, Edema, Generali... |
ORPHA:90362 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Abnormal heart morphology, Hip contracture, Respiratory distress, Flexion contracture, Wrist flex... |
ORPHA:1143 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Small for gestational age, Short ribs, Osteopeni... |
OMIM:616897 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... |
OMIM:214150 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Hypocalcemia, Steatorrhea, Short stature, Macrocytic anemia, Enamel hy... |
OMIM:212750 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Hirsutism, Alopecia |
OMIM:604931 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Protruding ear, Lipoma, Postnatal growth retardation, Spastic diplegia, Tremor, Hearing impairmen... |
ORPHA:480907 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Short stature, Small hand, Rocker bottom foot, Brachydactyly, Tapered finger... |
OMIM:615547 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Achondrogenesis Type 1A |
|
Severe short stature, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Femoral hernia... |
ORPHA:93299 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Predominantly lower limb lymphedema, Absent eyebrow, Alopecia, Sparse body hai... |
ORPHA:69735 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... |
OMIM:612447 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbell-shaped fem... |
ORPHA:56304 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... |
ORPHA:157941 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Sensorineural hearing impairment, Ataxia, Inability to walk, Short stature, Wad... |
OMIM:616756 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... |
ORPHA:79237 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Laurence-Moon Syndrome |
|
Sensorineural hearing impairment, Ataxia, Type II diabetes mellitus, Hypoplasia of penis, Short s... |
ORPHA:2377 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Camptodactyly of finger, Respiratory insufficiency, Rest... |
OMIM:614399 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology, W... |
ORPHA:50251 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
Neuraminidase Deficiency |
|
Facial edema, Inguinal hernia, Short stature, Hydrops fetalis, Ascites, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema |
OMIM:200610 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity, Recurrent otitis media |
OMIM:615993 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Hyperph... |
ORPHA:457059 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Cor pulmonale, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Cellulitis, Respiratory insufficiency, Hydrops fetalis, Pulmonary embolism,... |
ORPHA:90308 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Tal... |
OMIM:608594 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... |
ORPHA:94068 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Fetal Gaucher Disease |
|
Hydrops fetalis, Neonatal death, Stillbirth, Fetal akinesia sequence, Decreased fetal movement |
ORPHA:85212 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... |
ORPHA:100057 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Flexion contracture, Babinski sign, Parkinsonism, Wrist fle... |
OMIM:300055 |
Pearson Syndrome |
|
Ataxia, Steatorrhea, Corneal stromal edema, Glycosuria, Proteinuria, Hypoplastic spleen, Pancytop... |
ORPHA:699 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... |
ORPHA:231144 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Eczema, Keratoconjunctivitis, Perioral eczema, Tachypnea, Desquam... |
ORPHA:79242 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morphology, Short statur... |
ORPHA:93160 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Dehydration, Myocarditis, Abnormal b... |
ORPHA:31824 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive |
OMIM:615595 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis, Severe short-limb dwarfism, Omphalocele |
ORPHA:1263 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Pseudohypoparathyroidism Type 1A |
|
Laryngeal dystonia, Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone leve... |
ORPHA:79443 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... |
ORPHA:3163 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:79444 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Flexion contracture, Respiratory insufficiency, Nonimmun... |
ORPHA:367 |
11P15.4 Microduplication Syndrome |
|
Obesity, Highly arched eyebrow, Synophrys |
ORPHA:300305 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Short stature, Abn... |
OMIM:610883 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Congenital hypoparathyroidism |
ORPHA:2323 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism |
OMIM:184700 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
Mehmo Syndrome |
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Large earlobe, Hypertonia, Growth delay, Hypoplasia of penis, Micropenis, Diabetes mellitus, Obes... |
ORPHA:85282 |
Minicore Myopathy With External Ophthalmoplegia |
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Respiratory insufficiency, Hydrops fetalis, Increased connective tissue, Polyhydramnios, Decrease... |
OMIM:255320 |
Mucopolysaccharidosis, Type Vii |
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Loud snoring, Hirsutism, Airway obstruction, Thick eyebrow, Flexion contracture, Short stature, C... |
OMIM:253220 |
48,Xxyy Syndrome |
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Motor stereotypy, Ataxia, Type II diabetes mellitus, Hypoplasia of penis, Inguinal hernia, Tall s... |
ORPHA:10 |
Recurrent Respiratory Papillomatosis |
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Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Bardet-Biedl Syndrome 2 |
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Obesity, Hypogonadism, Diabetes mellitus |
OMIM:615981 |
Pelviscapular Dysplasia |
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Mesomelic leg shortening, Short femur, Short stature, Hypoplastic ilia, Congenital hip dislocatio... |
ORPHA:93333 |
Lymphangiectasia, Pulmonary, Congenital |
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Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
Central Precocious Puberty |
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Increased body weight, Abnormality of secondary sexual hair, Obesity, Overgrowth |
ORPHA:759 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Failure to thrive, Insulin resistance, Small for gestational age, Truncal obesity, Hypoglycemia, ... |
ORPHA:73272 |
Medullary Sponge Kidney |
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Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Hereditary Pulmonary Alveolar Proteinosis |
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Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... |
ORPHA:264675 |
Short Stature, Dauber-Argente Type |
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Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Alg8-Cdg |
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Failure to thrive, Small for gestational age, Oligohydramnios, Hydrops fetalis, Camptodactyly, Ed... |
ORPHA:79325 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
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Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... |
OMIM:254210 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Leptin Receptor Deficiency |
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Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... |
OMIM:614963 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Failure to thrive, Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase co... |
OMIM:613327 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Dent Disease 2 |
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Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Congenital Laryngeal Web |
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Respiratory distress, Abnormal cardiac septum morphology, Stridor, Short stature |
ORPHA:2374 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Secondary hyperparathyroidism, Failure to thrive, Hypophosphatemia, Hypocalcemia, Short stature, ... |
ORPHA:289157 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Morm Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Failure to thrive, Inguinal hernia, Elevated circulating propionylcarnitine concentration, Hypome... |
OMIM:614857 |
Immunodeficiency 61 |
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Obesity |
OMIM:300310 |
Estrogen Resistance Syndrome |
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Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... |
ORPHA:785 |
Hernández-Aguirre Negrete Syndrome |
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Obesity |
ORPHA:2139 |
Fish-Eye Disease |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Alg12-Cdg |
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Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Abnormal adipose ... |
ORPHA:79324 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:1832 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations, Gait distu... |
ORPHA:276435 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... |
OMIM:606176 |
Oculoskeletodental Syndrome |
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Hypocalcemia, Cryptorchidism, Small for gestational age, Renal agenesis, Short stature, Splenomeg... |
OMIM:618440 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Nephrotic Syndrome, Type 14 |
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Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Edema... |
OMIM:617575 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Obesity |
ORPHA:2206 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Splenomegaly, Intention tremor, Myoclonus, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersp... |
OMIM:610539 |
Spastic Paraplegia 11, Autosomal Recessive |
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Spastic gait, Ataxia, Urinary bladder sphincter dysfunction, Tip-toe gait, Impaired vibration sen... |
OMIM:604360 |
X-Linked Agammaglobulinemia |
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Sensorineural hearing impairment, Failure to thrive, Hypocalcemia, Cellulitis, Short stature, Ane... |
ORPHA:47 |
Congenital Factor Xii Deficiency |
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Penetrating foot ulcers |
ORPHA:330 |
Kenny-Caffey Syndrome, Type 2 |
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Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Double Outlet Right Ventricle |
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Hypoparathyroidism, Double outlet right ventricle, Hypocalcemia, Hypoplastic left heart, Pulmonic... |
ORPHA:3426 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hypomagnesemia, Hypocalcemia, Pulmonary edema, Hypocalcemic tetany, Dilated cardiomyopathy, Hyper... |
ORPHA:73224 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Placental Insufficiency |
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Insulin resistance, Hypoxemia, Small for gestational age |
ORPHA:439167 |
Ring Chromosome 10 Syndrome |
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Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Renal hypoplasia/aplasia, Cachexia, L... |
ORPHA:1438 |
Gaucher Disease, Perinatal Lethal |
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Respiratory distress, Apnea, Decreased body weight, Nonimmune hydrops fetalis, Neonatal death, Po... |
OMIM:608013 |
Bangstad Syndrome |
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Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Rabson-Mendenhall Syndrome |
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Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
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Respiratory distress, Failure to thrive, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Respiratory distress, Respiratory insufficiency, Increased connective tissue |
ORPHA:238329 |
Subaortic Stenosis-Short Stature Syndrome |
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Obesity, Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration |
ORPHA:3191 |
Mpi-Cdg |
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Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, Edema |
ORPHA:79319 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder, Obesity, Enuresis, Fa... |
OMIM:613670 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
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Truncal obesity |
OMIM:300471 |
Neuroleptic Malignant Syndrome |
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Hypomagnesemia, Hypocalcemia, Dehydration, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Ig |
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Polyhydramnios, Hypocalcemia, Patent foramen ovale, Edema |
OMIM:607143 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, Nonimmune hydrops fetalis,... |
OMIM:618052 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia |
ORPHA:254531 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Hypothyroidism, Type I diabetes me... |
ORPHA:213 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Lethal Congenital Contracture Syndrome 10 |
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Overriding aorta, Hydrops fetalis, Ventricular septal defect, Omphalocele, Oligohydramnios, Intra... |
OMIM:617022 |
Xq27.3Q28 Duplication Syndrome |
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Sparse body hair, Failure to thrive, Truncal obesity |
ORPHA:261483 |
Squalene Synthase Deficiency |
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Hypospadias, Low-set, posteriorly rotated ears, Increased circulating farnesol concentration, Hyp... |
OMIM:618156 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Mitochondrial Trifunctional Protein Deficiency |
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Failure to thrive, Small for gestational age, Respiratory insufficiency, Prenatal maternal abnorm... |
OMIM:609015 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Respiratory distress |
ORPHA:171703 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Sensorineural hearing impairment, Ataxia, Short stature, Absent pubertal growth spurt, Puberty an... |
ORPHA:464282 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance |
ORPHA:90154 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Decreased growth hormone responses to growth hormone-releasing hormone challenge, Elevated circul... |
OMIM:101800 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, Progressive cerebellar ataxia |
ORPHA:67046 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Postaxial polydactyly, Brachydactyly, Polydactyly, Truncal obesity, Syndactyly, Posta... |
OMIM:615986 |
Rafiq Syndrome |
|
Ataxia, Flexion contracture, Short stature, Cerebellar hypoplasia, Truncal obesity, Macrotia, Obe... |
OMIM:614202 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
Oculocerebrodental Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hypocalcemia, Short stature, Ena... |
ORPHA:557003 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Abnormal mucociliary clearance, Respiratory distress, Chronic otitis media |
OMIM:619466 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Polyhydramnios, Lymphedema, Ascites, Th... |
OMIM:235255 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Tip-toe gait, Hypoketotic hypoglycemia, Babinski sign, Frequent... |
ORPHA:746 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Polyhydramnios, Pneumon... |
ORPHA:596 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Lymphedema, O... |
OMIM:601927 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Hemochromatosis, Neonatal |
|
Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:231100 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Hypophosphatemia, Abnor... |
OMIM:307800 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Short femur, Femoral bowing, Hypoplastic ilia, Micromelia, Brachydactyly, Short ... |
ORPHA:1860 |
Gm1 Gangliosidosis |
|
Failure to thrive, Generalized hirsutism, Hirsutism, Inguinal hernia, Short stature, Aspiration p... |
ORPHA:354 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189439 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Sensorineural hearing impairment, Hypertonia, Hypoesthesia, Impaired vibratory sensation, Hypergo... |
OMIM:619737 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond... |
ORPHA:423 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Hypomagnesemia, Xerostomia, Hypokalemia |
OMIM:175500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Atrial septal defect, Hypoproteinemia, Hyperammonemia, Elevated circulating creatin... |
ORPHA:26793 |
Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Abnormal circulating follicle-stimulating hormone concentration, Congenital hypoparathyroidism, H... |
ORPHA:93325 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Baralle-Macken Syndrome |
|
Obesity, Hirsutism, Striae distensae |
OMIM:619255 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ataxia, Cerebellar vermis atrophy, Intrauterine growth retardation, Broad-based gait, Disproporti... |
OMIM:616541 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... |
ORPHA:411634 |
Short Syndrome |
|