| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Syncope... |
OMIM:220400 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment |
OMIM:614896 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu... |
OMIM:612347 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... |
OMIM:609698 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Disprop... |
ORPHA:1856 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... |
OMIM:603373 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce... |
OMIM:619795 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... |
ORPHA:90673 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Large fontanelles, Join... |
ORPHA:2097 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Limb ... |
ORPHA:2204 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Polyphagia, Hypoglycem... |
ORPHA:276580 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Large fontan... |
ORPHA:1525 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Metatropic Dysplasia |
|
Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Join... |
ORPHA:2635 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Agitat... |
ORPHA:276608 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... |
OMIM:262700 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucosa morpholog... |
ORPHA:103907 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia |
OMIM:238700 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... |
ORPHA:438274 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Decreased ci... |
OMIM:241530 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter |
OMIM:188580 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Abnormality of th... |
ORPHA:1486 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ... |
OMIM:609152 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Multiple joint d... |
OMIM:618395 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... |
OMIM:619135 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Insulin resistance, Obesit... |
OMIM:615703 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... |
ORPHA:93388 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Polyphagia |
OMIM:620195 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... |
OMIM:262710 |
| Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia |
OMIM:277150 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, V... |
OMIM:606528 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st... |
ORPHA:2249 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... |
OMIM:249600 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, Arrhythmia, Prolonged QT... |
ORPHA:90647 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:264700 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:277440 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Delayed prox... |
ORPHA:90674 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat... |
OMIM:602471 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Micrognathia |
OMIM:300831 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Femoral bowing, Short 5th metacarpal, Wormian bones, Short 4th metacarpal... |
OMIM:619638 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... |
ORPHA:950 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Short stature, Osteomalacia, Irregular, rachitic... |
ORPHA:289157 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Mi... |
OMIM:616201 |
| Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Ovarian cyst, Increased ... |
ORPHA:562 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
| Glutaric Aciduria Iii |
|
Hypertension, Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Timothy Syndrome |
|
Prolonged QT interval, Hypothermia, Ventricular tachycardia, Atrioventricular block, Bradycardia,... |
OMIM:601005 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Micrognathia, Hip... |
ORPHA:2484 |
| Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Craniosynostosis, Puberty and gonadal disorders, Congestive heart failure, T... |
ORPHA:525731 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia |
OMIM:617173 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... |
ORPHA:226313 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Dementia, Increased bone d... |
OMIM:136300 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy, Vomiting, Diarrhea |
OMIM:615863 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Premature ovarian insufficiency, Short stature, Osteoporosis, Male hypogonadism, Hypothyroidism |
OMIM:618625 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Polyphagia, Increased serum leptin |
OMIM:617885 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Aganglionic megacolon, Hyperhidrosis |
ORPHA:2151 |
| Thyroid Hypoplasia |
|
Jaundice, Macroglossia, Constipation, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio... |
OMIM:222600 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
| Ulnar Hypoplasia With Mental Retardation |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement |
OMIM:276821 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Short stature, Re... |
OMIM:610967 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Recurrent urinary tract infections, Renal ... |
ORPHA:976 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Wolfram-Like Syndrome |
|
Diabetes mellitus, Severe postnatal growth retardation, Primary gonadal insufficiency, Delayed pu... |
ORPHA:411590 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated cir... |
ORPHA:249 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypothermia, Ventricular tachycardia, Oligu... |
ORPHA:159 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteo... |
ORPHA:93160 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri... |
OMIM:307800 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
| Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... |
OMIM:612526 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Tachycardia, Proteinuria, Large for gestational age, Diarrhea, Hyp... |
ORPHA:263455 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Primary Erythromelalgia |
|
Vasculitis, Hypothermia |
ORPHA:90026 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... |
OMIM:122860 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy, Hypothyroidism |
OMIM:619647 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
| Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... |
OMIM:601419 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... |
OMIM:600955 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Hypothermia, Hyperhidrosis |
ORPHA:29822 |
| Congenital Atransferrinemia |
|
Arthritis, Hypothyroidism |
ORPHA:1195 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia |
OMIM:617182 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... |
OMIM:617952 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Decreased thyroid-stimulating hormone level, Severe postnatal growth retardation, De... |
OMIM:275100 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re... |
ORPHA:79085 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... |
OMIM:614078 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
| Fetal Iodine Syndrome |
|
Sensorineural hearing impairment, Hypothyroidism |
ORPHA:1910 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Miscarriage |
ORPHA:99927 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
| Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi... |
ORPHA:2796 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrophy, Congestive... |
ORPHA:528 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest, Hypothermia |
ORPHA:168593 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating luteinizing hormon... |
OMIM:609441 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,... |
ORPHA:2788 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness |
OMIM:166700 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ... |
ORPHA:2909 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
| Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Diarrhea, Vomiting, Malabsorption |
ORPHA:103909 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Kn... |
OMIM:601559 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Severe short stature, Talipes, Coxa valga, Metatarsus adductus, Avascular... |
ORPHA:2557 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... |
OMIM:620076 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Obesity, Myocardial infarction |
OMIM:608320 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho... |
ORPHA:93324 |
| Acute Monoblastic/Monocytic Leukemia |
|
Fever, Anorexia, Oliguria, Central hypothyroidism, Weight loss, Increased circulating lactate deh... |
ORPHA:514 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox... |
ORPHA:79102 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Abnormality of ... |
ORPHA:163649 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Colon cancer, Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:319487 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Osteoporosis, Ankle clonus, Lambdoidal craniosynostosis, Meto... |
OMIM:615398 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Reduced intraabdominal ... |
ORPHA:363400 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Vertigo, Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi... |
OMIM:143095 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Elbow flexion contracture... |
OMIM:616809 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435660 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Genetic Recurrent Myoglobinuria |
|
Fever, Elevated hepatic transaminase, Renal insufficiency, Dark urine, Recurrent myoglobinuria, E... |
ORPHA:99845 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Abnormal circulating enzyme concentration or activity, Portal hypert... |
ORPHA:79319 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat... |
ORPHA:157215 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial synostosis,... |
OMIM:251230 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Nathalie Syndrome |
|
Abnormal EKG, Hearing impairment |
OMIM:255990 |
| Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
| Lassa Fever |
|
Shock, Fever, Menometrorrhagia, Diarrhea, Jaundice, Oliguria, Dysphagia |
ORPHA:99824 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility |
OMIM:264300 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism, Short stature |
OMIM:275120 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Hamstring contractures, Congenital hypothyroidism, Intrauterine growth retardation, Failure to th... |
ORPHA:96183 |
| Osteogenesis Imperfecta, Type Xxi |
|
Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Disprop... |
OMIM:619131 |
| Saccharopinuria |
|
Citrullinuria, Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Gait ataxia, Cystin... |
ORPHA:3124 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Short stature, Generalized joint laxity, Primary amenorrhea, Growth delay, Lipom... |
ORPHA:502423 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Orthos... |
ORPHA:199299 |
| Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... |
ORPHA:97362 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Short stature, Abnormal morphology of ulna, Joint stiffness, Abnormalit... |
ORPHA:1040 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Atrial fibrillation, Hypertrig... |
OMIM:613327 |
| Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Tali... |
ORPHA:2771 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
| Autosomal Recessive Primary Microcephaly |
|
Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Potocki-Shaffer Syndrome |
|
Hypertension, Decreased skull ossification, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate aminotransferase co... |
OMIM:619048 |
| Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
| Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism, Rheumatoid arthritis |
ORPHA:48377 |
| Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Genu recurvatum, Short stature, Micromelia, Metaphyseal widening... |
OMIM:184260 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Su... |
OMIM:615108 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, Hyperinsulinemic hy... |
OMIM:602579 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypogonadism, Obesity, Short stature |
ORPHA:85274 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Diabetes mellitus, Hyperthyroidism, Shyness, Hypertension, Impaired social interact... |
ORPHA:449291 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi... |
ORPHA:2741 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones... |
OMIM:620269 |
| Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Increased susceptibili... |
OMIM:609220 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Colon cancer, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... |
OMIM:239500 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Short stature, Craniosynostosis, Absent thumb, Micrognathia, Hypoplasia o... |
ORPHA:96097 |
| Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Hypertension, Abdominal obe... |
OMIM:615980 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Rocker botto... |
ORPHA:2616 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Vertigo, Ventricular tachycardia, Premature ventricular con... |
OMIM:614916 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Hypothermia |
OMIM:614654 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ... |
OMIM:613849 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseu... |
OMIM:612462 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Optic atrophy, Craniosynostosis |
ORPHA:178377 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Hearing impairment, Congenital hypothyroidism |
OMIM:228355 |
| Sepsis In Premature Infants |
|
Fever, Tachycardia, Small for gestational age, Diarrhea, Jaundice, Enterocolitis, Oliguria, Vomit... |
ORPHA:90051 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Multiple lipomas, Increased cir... |
OMIM:617675 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Short stature, Anemia of inadequate production, Absent thumb, Unilateral ... |
OMIM:614900 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia, Mental deterioration |
OMIM:615924 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Neu... |
OMIM:234500 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi... |
OMIM:269300 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Su... |
OMIM:615109 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Micromelia, Wide distal femoral metaphysis, Postnatal growt... |
OMIM:613320 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Atrial fibrillation, Dilated cardiomyopathy, Osteoporosis, Re... |
ORPHA:254892 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia, Diarrhea |
ORPHA:2290 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Reduced left ventricular ejection fra... |
OMIM:616501 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Vertigo, Ventricular tachycardia, Right bundle branch bl... |
ORPHA:263297 |
| Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci... |
OMIM:176920 |
| Galactokinase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Premature ovarian insufficiency, Hypergona... |
ORPHA:79237 |
| Pseudohypoparathyroidism, Type Ia |
|
Short stature, Osteoporosis, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid ... |
OMIM:103580 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Absent ossification of... |
OMIM:166210 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Dysphagia |
OMIM:620265 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... |
OMIM:259440 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... |
OMIM:158350 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... |
OMIM:619079 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... |
OMIM:600920 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Short stature, Bowing of the legs |
OMIM:146350 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion c... |
ORPHA:220393 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar... |
OMIM:614732 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Elevated al... |
ORPHA:398063 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Inguinal hernia, Testicular dysgenesis, Abnormality of thyroid physiology |
OMIM:615542 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... |
OMIM:610628 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Diabetes mellitus, Hypertriglycerid... |
ORPHA:2348 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Diarrhea, Oliguria, Weight loss, Hypotension, Arr... |
ORPHA:188 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent... |
OMIM:616229 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, T... |
OMIM:615381 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... |
ORPHA:330001 |
| Ddost-Cdg |
|
Osteopenia, Lipodystrophy, Short stature, Primary hypothyroidism, Failure to thrive |
ORPHA:300536 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Fever, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Short stature, Diffuse alveolar hemorrhage, Reduced natural killer... |
OMIM:616050 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Pes planus, Short stature, Coxa valga, Micrognathia, Dispropo... |
OMIM:618363 |
| Lujo Hemorrhagic Fever |
|
Shock, Fever, Elevated hepatic transaminase, Renal insufficiency, Myocarditis, Diarrhea, Fulminan... |
ORPHA:319213 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Hypothermia, Diarrhea, Insulin resistance, H... |
ORPHA:230 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Premature graying of hair, Increased intraabdominal fat, Generalized hirsutism, Abn... |
ORPHA:280365 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Inflammation of the large intestine, Colitis, Decreased circ... |
OMIM:614700 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... |
OMIM:605899 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Epiphyseal dysplasia, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Elevated tissue non-specific alkaline phosphatase, Increased circu... |
ORPHA:785 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Fever, Pericarditis, Glomerulopathy, Renal insufficiency, Epistaxis,... |
ORPHA:727 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Pseudopseudohypoparathyroidism |
|
Short stature, Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hor... |
ORPHA:79445 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Cleft pal... |
ORPHA:2166 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Short stature, Camptodactyly of finger, Recurrent fractures... |
ORPHA:3206 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipoatroph... |
ORPHA:79083 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Short stature, Single transverse palmar crease, Talipes, Delayed closure of the ant... |
ORPHA:251009 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration... |
OMIM:274150 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration |
OMIM:221400 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe... |
OMIM:610915 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... |
OMIM:619377 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Wide anterior fontanel |
OMIM:614859 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis... |
ORPHA:1901 |
| Xq27.3Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Truncal obesity, Hypogonadism, Intrauterine growth retardation, Fa... |
ORPHA:261483 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap... |
OMIM:208500 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hypothyroidism, Hypoparathyroidism, High-output conge... |
ORPHA:231226 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Hypogonadotropic hypogonadism, Infertility, Cryptorchidism |
ORPHA:752 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Hypothermia, Hyperhidrosis |
OMIM:245400 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... |
OMIM:246200 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Gne Myopathy |
|
Limited shoulder movement, Cardiomyopathy, Hypothyroidism, Limited wrist extension |
ORPHA:602 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Vertigo, Syncope, Arrhythmia |
ORPHA:871 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:151660 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Growth delay, ... |
OMIM:614886 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Abnormality of the hand, Micrognathia, Lower limb asymmetry, Postnatal growth retarda... |
ORPHA:576283 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffus... |
ORPHA:64744 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Failure to thrive, Villous atrophy, Long fingers, Diarrhea, Flexion contracture, Vomiting, Talipe... |
OMIM:601110 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract... |
ORPHA:83468 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Cryptorchidi... |
ORPHA:488632 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equi... |
OMIM:605274 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Bifid femur, Increased s... |
ORPHA:2769 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, T lymphocytopenia, Short stature, Autoimmune thrombocytopenia, Abnor... |
ORPHA:391487 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Prolonged QT interval, Hyperthyroidism, Short stature, Bidirectional ventricular ec... |
OMIM:170390 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertrigl... |
OMIM:608594 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... |
OMIM:227270 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... |
OMIM:212780 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,... |
ORPHA:1652 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g... |
ORPHA:163634 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro... |
OMIM:613848 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... |
OMIM:201170 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Abnormal patella morphology, ... |
ORPHA:166002 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis |
OMIM:614602 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
| Illum Syndrome |
|
Temperature instability, Bradycardia |
OMIM:208155 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Chylomicron Retention Disease |
|
Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Steatorrhea |
OMIM:246700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, D... |
OMIM:609286 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia, Hypothermia |
OMIM:614498 |
| Pendred Syndrome |
|
Hyperparathyroidism, Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo, Hyp... |
ORPHA:705 |
| Cln3 Disease |
|
Aggressive behavior, Increased circulating androgen concentration, T-wave inversion, Bradycardia,... |
ORPHA:228346 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Hawkinsinuria |
|
Failure to thrive, Hypothyroidism |
ORPHA:2118 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Epiphyseal stippling, Large posterior fontanelle, Wide anterior fontanel, Talipes equinovarus |
OMIM:614872 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx o... |
ORPHA:221016 |
| Menkes Disease |
|
Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Wormian bones... |
OMIM:309400 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Immunodeficiency 31C |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Osteomye... |
OMIM:614162 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Redu... |
OMIM:602152 |
| Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Ectopic posterior pituitary, Failure to thrive, Short stature, Adrenal hypoplas... |
ORPHA:95496 |
| Fanconi Renotubular Syndrome 3 |
|
Growth delay, Rickets, Short stature, Bowing of the legs |
OMIM:615605 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Chronic active hepatitis, Hypergonadotropic h... |
OMIM:203800 |
| Joubert Syndrome 26 |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Short stature, Central... |
OMIM:616784 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Bloody diarrhea |
OMIM:614328 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy |
OMIM:620270 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Villous atrophy, Failure to thrive in infancy, Chronic diarrhea,... |
OMIM:619510 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... |
OMIM:176400 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Single transverse palmar crease, Recurrent fractures, Postnatal growth retardation, 2... |
ORPHA:2324 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, I... |
OMIM:304790 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... |
ORPHA:300373 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Growth delay, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
| Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
| Myasthenia Gravis |
|
Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormal thymus morphology, R... |
ORPHA:589 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregul... |
OMIM:615238 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P... |
ORPHA:542306 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... |
ORPHA:90065 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty... |
OMIM:175700 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ... |
OMIM:171480 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodys... |
OMIM:269700 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Short stature |
OMIM:300484 |
| Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susc... |
OMIM:146300 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... |
ORPHA:231214 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font... |
OMIM:620099 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Campto... |
ORPHA:2804 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Elbow flexion contracture, Optic at... |
OMIM:619470 |
| Narcolepsy Type 1 |
|
Syncope, Obesity |
ORPHA:2073 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435651 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial... |
OMIM:617925 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor... |
ORPHA:2658 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Intrauterine growth ret... |
OMIM:619737 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Lim... |
ORPHA:2994 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Joint swelling, Abnormal tibial metaphysis mo... |
ORPHA:668 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Laron Syndrome |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Abnormal joint morphology, Sh... |
OMIM:262500 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Vertigo, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating gro... |
OMIM:608747 |
| Frank-Ter Haar Syndrome |
|
Short palm, Osteopenia, Bowing of the long bones, Delayed cranial suture closure, Micrognathia, M... |
OMIM:249420 |
| Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, S... |
ORPHA:79320 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Pseudopseudohypoparathyroidism |
|
Short stature, Osteoporosis, Pseudohypoparathyroidism, Obesity, Enamel hypoplasia |
OMIM:612463 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Recurrent fractures, Increased circulating gonadot... |
ORPHA:2410 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Bradycardia |
OMIM:609924 |
| Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... |
ORPHA:397685 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage colla... |
OMIM:156550 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Diarrhea, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:94086 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Fever, Hypertensive crisis, Diabetes mellitus, Anuria, Myocarditis, Diarrhea, Secretory diarrhea,... |
ORPHA:544482 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Proportionate short stature, Small hand, Short foot, ... |
OMIM:244460 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplast... |
ORPHA:221008 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Hypohomocysteine... |
OMIM:617744 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Rhizomelia, Short stature, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo... |
ORPHA:168549 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Small for gestational age, Hyp... |
ORPHA:26793 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Cryptorchidism, Short metatarsal, Advanced ossification of c... |
OMIM:614613 |
| Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Decreased bod... |
OMIM:618347 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| Cystinosis |
|
Short stature, Portal hypertension, Malabsorption, Nephrogenic diabetes insipidus, Rickets, Vomit... |
ORPHA:213 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th... |
OMIM:218600 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Short stature, Fifth finger distal phalanx clinodactyly, Postnatal growth retardation, Metopic su... |
ORPHA:3369 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys... |
ORPHA:93352 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Gastroesophageal reflux, Bradycardia |
OMIM:619814 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Hearing impairment |
OMIM:616277 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... |
OMIM:616294 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
| Colchicine Poisoning |
|
Renal insufficiency, Alopecia, Congestive heart failure, Diarrhea, Myocarditis, Hypovolemia, Olig... |
ORPHA:31824 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Genu varum, Patellar hypoplasia, Short femoral ne... |
OMIM:609325 |
| Athyreosis |
|
Thyroid agenesis, Growth delay, Hypothyroidism, Short stature |
ORPHA:95713 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resistance, Hyper... |
ORPHA:79086 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduri... |
ORPHA:71212 |
| Werner Syndrome |
|
Myocardial infarction, Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Renal n... |
ORPHA:902 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Postnata... |
OMIM:611717 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Recurrent fractures, Increased susceptibility to fractures, Reduced ... |
OMIM:166220 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo... |
ORPHA:1798 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Rabson-Mendenhall Syndrome |
|
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying ... |
ORPHA:769 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Treacher-Collins Syndrome |
|
Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Multiple enchondromatosis,... |
ORPHA:861 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Growth delay, Decreased circul... |
OMIM:612301 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Sea-blue histiocytosis, ... |
OMIM:230600 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Atrioventricular block, Growth delay, Bradycardia, Joint contractur... |
OMIM:614407 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E... |
ORPHA:2485 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Short palm, Abnormality of the gastrointestinal tract, Severe short stature, Telangie... |
ORPHA:2176 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Bilateral single transverse palmar creases, Eosinophilia, ... |
ORPHA:353298 |
| Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Tachycardia, Increased fecal coproporp... |
OMIM:121300 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fever, Elevated hepatic transaminase, Tachycardia, Heart block, Diarrhea, Capillary leak, Reduced... |
ORPHA:542323 |
| Allan-Herndon-Dudley Syndrome |
|
Flexion contracture, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased s... |
OMIM:241600 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Acrocardiofacial Syndrome |
|
Death in infancy, Hyperthyroidism, Camptodactyly of finger, Cryptorchidism, Intrauterine growth r... |
ORPHA:2008 |
| Hao-Fountain Syndrome |
|
Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
| Variegate Porphyria |
|
Tachycardia, Increased fecal protoporphyrin concentration, Vomiting, Constipation |
OMIM:176200 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Constipation, Hypothyroidism, Goiter |
OMIM:274400 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone oss... |
ORPHA:93315 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial septal defect, ... |
DECIPHER:39 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,... |
OMIM:615777 |
| Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Aplastic clav... |
OMIM:265800 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Hyperten... |
OMIM:219080 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Hypothermia, Splenomegaly, Micronodular cirrhosi... |
OMIM:251880 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity, Short stature |
OMIM:615993 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ... |
OMIM:620366 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Decreased circulating IgG level, Pericarditis, Villous atrophy, Hypergonadotropic hyp... |
OMIM:212065 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Micrognathia, Generalized osteosclerosis, Hypoplastic iliac ... |
ORPHA:763 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Diarrhea, Thrombocytopenia, Vomiting, Talipes equinovarus, Protein-losing enterop... |
OMIM:608104 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Coxa vara, Inc... |
OMIM:610968 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Broad hallux, Hypothyroidism, Congenita... |
OMIM:620186 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Camptodactyly of finger, Thyroid agenesis, Cryptorchidism... |
ORPHA:3047 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoac... |
OMIM:612736 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Large fontanelles, Triangular s... |
ORPHA:73230 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Wormian bones, Decreased fibular diameter, Multiple pr... |
OMIM:616897 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
ORPHA:357175 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Umbilical hernia, Hypothyroidism, Short stature |
ORPHA:2349 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility |
ORPHA:436141 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... |
ORPHA:453533 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Low anterior hairline... |
ORPHA:73272 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ... |
OMIM:607323 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... |
ORPHA:54057 |
| Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ... |
ORPHA:1452 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
| Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, Postnatal growth r... |
OMIM:248370 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
OMIM:615162 |
| Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration |
OMIM:223360 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Flexion ... |
OMIM:263210 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Cardiac arrest, Ventricular t... |
OMIM:212138 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increase... |
OMIM:615830 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno... |
ORPHA:177 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short stature, Abnormality of the thyroid gland, Obesity, Decreased fertility,... |
ORPHA:2234 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Severe short stature, Micrognathia, Facial hyperostosis, Large fo... |
ORPHA:2780 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Pulmonary embolism, Malabsorption, Diarrhea, Clubbing, Decreased circulat... |
OMIM:226300 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Decreased circulating IgG level, Short stature, Joint stiffness, Postnatal gro... |
OMIM:620210 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... |
ORPHA:79327 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... |
OMIM:171400 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral r... |
OMIM:610682 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... |
ORPHA:2905 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, Severe short stature, Hypothyroidism |
OMIM:619851 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Small for gestational age, Increased circulating gonadotropin level, Abdominal obe... |
OMIM:300869 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abdominal... |
ORPHA:3055 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Wor... |
OMIM:616603 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| 14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Premature thelarche, Hypothyroidism, Sensorineural hearing impairment, Ventricula... |
OMIM:616878 |
| Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
| Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular... |
OMIM:600002 |
| Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Hypothermia, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618775 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Failure to thrive in infancy, Osteomyelitis, Cachexia, Abnormality of the endocr... |
ORPHA:37042 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... |
OMIM:269200 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Com... |
OMIM:261600 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Erythroid hyperplasia, Hy... |
ORPHA:231222 |
| Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Birth ... |
OMIM:300148 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Autoimmune hypoparathyroidism, Ventric... |
ORPHA:36913 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
| Ascher Syndrome |
|
Deviation of finger, Hypothyroidism, High palate, Goiter |
ORPHA:1253 |
| Urban-Rogers-Meyer Syndrome |
|
Short stature, Recurrent fractures, Camptodactyly of finger, Cryptorchidism, Increased circulatin... |
ORPHA:3409 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Tapered finger, Long fingers, Calcaneovalgus deformity, Congenital hypothyroidism, Thyroid hypopl... |
ORPHA:521445 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Malabsorption, Protracted diarrhea, Colitis |
OMIM:209920 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Precocio... |
ORPHA:254346 |
| Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... |
OMIM:112350 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph... |
OMIM:156400 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Bradycardia, Decreased liver function,... |
OMIM:616299 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Disproportionate short-limb short ... |
OMIM:259410 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro... |
OMIM:151210 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Villous atrophy, Portal hypertension, Biliary hyperplasia, Jaundic... |
ORPHA:567983 |
| Bangstad Syndrome |
|
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gon... |
OMIM:210740 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia, Hypothermia |
OMIM:608800 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Overweight, Flexion contracture, Pulmonary arterial hypertension, Failure to t... |
ORPHA:391372 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec... |
OMIM:606367 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Short stature, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Hip dislocation, High palate, Neutropenia, Limb undergrowth, Intrauter... |
OMIM:618005 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo... |
ORPHA:358 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal ... |
ORPHA:84 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Short stature, Obesity |
OMIM:619058 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Postnatal growth re... |
OMIM:263750 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... |
OMIM:224400 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... |
ORPHA:79230 |
| Shox-Related Short Stature |
|
Short stature, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm ... |
ORPHA:314795 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic il... |
ORPHA:96334 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu... |
OMIM:166200 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Tachycardia, Malignant hyperthermia |
OMIM:601887 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Tetanus |
|
Fever, Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Auto... |
ORPHA:3299 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:254516 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Fever, Anorexia, Hypothermia, Jaundice... |
ORPHA:20 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ... |
ORPHA:2491 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:618160 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy |
OMIM:619063 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects... |
OMIM:259100 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Hypercalcemia, Progressive psychomotor deterioration, Increase... |
ORPHA:251004 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Chronic diarrh... |
ORPHA:90362 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
| Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Bradycardia, ... |
ORPHA:391673 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin... |
ORPHA:371428 |
| Temple Syndrome |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
OMIM:616222 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hypertension, Hy... |
OMIM:613385 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Diarrhea... |
OMIM:610768 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Meningococcal Meningitis |
|
Shock, Papilledema, Fever, Hypothermia, Hypotension, Hearing impairment |
ORPHA:33475 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... |
ORPHA:93356 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia |
OMIM:258865 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Bile duct proliferation, Macrovesicular hepatic steatosis, Hypothermia, Hypoglycemia |
OMIM:618329 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hy... |
OMIM:143880 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Delayed cranial suture closure... |
ORPHA:93325 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, T... |
ORPHA:2928 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Mesoaxial polydactyly, Radial bowing, P... |
ORPHA:672 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Mulibrey Nanism |
|
Short stature, Single transverse palmar crease, Absent frontal sinuses, Hypoplastic frontal sinus... |
OMIM:253250 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuff... |
ORPHA:227982 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Optic atrophy, F... |
OMIM:259700 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemic rickets |
OMIM:193100 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, Micrognathia... |
OMIM:225410 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Micrognathia, A... |
ORPHA:313855 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
| Weill-Marchesani Syndrome 1 |
|
Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, Broad palm, Broad ... |
OMIM:277600 |
| Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,... |
OMIM:100800 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Gastrointestinal hemorrhage, Inguinal hernia, Hyperthyroidism, Short stature,... |
ORPHA:567 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Progeroid Syndrome, Petty Type |
|
Short stature, Wide anterior fontanel, Intrauterine growth retardation, Decreased skull ossificat... |
ORPHA:2963 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior p... |
ORPHA:227990 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism... |
ORPHA:398079 |
| Pancreatitis, Hereditary |
|
Fever, Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine... |
OMIM:167800 |
| Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... |
ORPHA:666 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Elevated circ... |
OMIM:101800 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Pancytopenia, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... |
ORPHA:85170 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Small for gestational age, Rhizomelia, Craniosynostosis, Micrognathia, Decr... |
OMIM:614114 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Large fontanelles, Wormian bone... |
OMIM:612940 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Hypothyroidism, Short toe, Obesity, Arr... |
OMIM:600430 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Decreased fertility, Obesity, Hypogonadism, Abnormal testis morphology |
ORPHA:2233 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Tricuspid regurgitation, Talipes, Micrognathia, Achilles tendon contracture, Kne... |
OMIM:620351 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Short humerus, Short femur, Rhizomelia, Small for gestational ag... |
OMIM:607143 |
| Mehmo Syndrome |
|
Growth delay, Cryptorchidism, Diabetes mellitus, Obesity |
ORPHA:85282 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal scle... |
OMIM:618476 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Long palm, Recurrent fractures, Single transverse palmar... |
OMIM:309583 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short stature, Micrognathia, Reduced bone mineral density, Growth delay, Short cl... |
OMIM:619322 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit... |
OMIM:271650 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, O... |
OMIM:231070 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Diabetes mellitus, Small for gestational age, Dorsocervical fat pad, Proportionate ... |
ORPHA:391408 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Sensorineural hearing impairment, Optic atrophy, Arrhythmia,... |
ORPHA:480864 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
| Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
| Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... |
ORPHA:1508 |
| Sarcoidosis |
|
Abnormal cardiac ventricular function, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hype... |
ORPHA:797 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Obesity, Azoospermia, Abnormality of the hypothala... |
ORPHA:2183 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Sudden cardiac death, First degree atrioventricular block, Peroneal mus... |
OMIM:181350 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Osteopenia, Hypergonadotropic ... |
ORPHA:91 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Sho... |
OMIM:614008 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarc... |
ORPHA:739 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft pa... |
OMIM:258860 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp... |
ORPHA:2319 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Short stature, Obesity, Delayed puberty |
OMIM:301900 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Cone-shaped epiphysis, Short foot, Short long bone, Short... |
OMIM:102370 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
| Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Social and oc... |
ORPHA:98818 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Micrognathia, Hyperextensibility of the knee, Elevated circul... |
OMIM:601812 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Reduced hepatic D-glycerate kinase activity, Tongue thrusting, Aminoaciduria, Gastr... |
OMIM:220120 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion... |
OMIM:214150 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibility to fractures, Decrease... |
OMIM:241500 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Obesity |
ORPHA:254525 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Dilated cardiomyopathy, Optic atrophy, Bilateral sensorineural hearing imp... |
ORPHA:66634 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Small for gestational age, Dysmenorrhea, Postnatal growth retardation, Cryptorch... |
ORPHA:397590 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb |
ORPHA:2091 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormal thumb morphology, Diarrhea, Abno... |
ORPHA:1842 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Glucose intolerance, Vomiting, Sparse hair, Decreased adipose ti... |
OMIM:606721 |
| Cholera |
|
Fever, Tachycardia, Abnormality of renal excretion, Hypoglycemia, Diarrhea, Hypovolemic shock, Vo... |
ORPHA:173 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Severe short stature, Bilateral single transverse palmar creases, Abnormality of t... |
ORPHA:2511 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:614702 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Celiac disease, Neutrope... |
OMIM:615952 |
| Whipple Disease |
|
Fever, Hepatomegaly, Anorexia, Splenomegaly, Insulin resistance, Polydipsia, Hypothyroidism |
ORPHA:3452 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Large posterior fontanelle, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... |
OMIM:250220 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Pr... |
ORPHA:2070 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo... |
OMIM:618188 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Cinca Syndrome |
|
Joint dislocation, Abnormality of neutrophils, Delayed closure of the anterior fontanelle, Spleno... |
ORPHA:1451 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
ORPHA:94090 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Short stature, Flexion contracture, Limitation of joint mobi... |
ORPHA:90153 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Premature closure of fontanelles, Hepatosplenomegaly, Short long bone, Limb unde... |
ORPHA:221054 |
| Short Syndrome |
|
Alopecia, Diabetes mellitus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, I... |
ORPHA:3163 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Dysphagia, Pheochromocytoma, Elevated circulating calciton... |
ORPHA:1332 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Recurrent fractures, Optic atrophy, Osteopetrosis |
OMIM:611490 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Diarrhea, Xerostomia, Clubbing, Hematochezia, Hamartomatous polyposis, Clubbing of... |
OMIM:175500 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Loss of facial adipose tissue,... |
ORPHA:3455 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Vomiting |
ORPHA:1201 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Hypothermia, Conges... |
ORPHA:31826 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Oligozoospermia, Right bundle branch block, Premature ventricular contraction, Decre... |
OMIM:602668 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
| Gitelman Syndrome |
|
Prolonged QT interval, Vertigo, Ventricular tachycardia, Increased circulating renin level, Palpi... |
OMIM:263800 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Talipes, Severe generalized osteoporosis, Micrognathia, De... |
OMIM:210730 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Elevated circulating creatinine concentration |
OMIM:616733 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Short stature |
ORPHA:589618 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Hyperactivity, Optic atrophy |
OMIM:300928 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1882 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Micrognathia, Abnormal f... |
OMIM:601390 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... |
OMIM:252600 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide a... |
ORPHA:15 |
| Li-Campeau Syndrome |
|
Cryptorchidism, Hypothyroidism, Short stature |
OMIM:619189 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:615982 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Abnormal femur morpholo... |
ORPHA:324 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating aspartate aminotransfer... |
OMIM:214950 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Inguinal hernia, Hypothyroidism |
OMIM:613970 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... |
ORPHA:478 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness, ... |
OMIM:608328 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... |
ORPHA:2633 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyse... |
OMIM:300863 |
| Alexander Disease |
|
Diabetes mellitus, Hypothermia, Precocious puberty, Hyperhidrosis, Self-injurious behavior, Dysph... |
ORPHA:58 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Tapered finger, Micrognathia, Joint hyperflexibility, High palate, Met... |
ORPHA:2479 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
| Alg9-Cdg |
|
Microretrognathia, Villous atrophy, Tricuspid regurgitation, Ulnar deviation of the hand, Rhizome... |
ORPHA:79328 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Sinus tachycardia, Hepatic failure, Oliguria, Maligna... |
ORPHA:466650 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Polydipsia, Decreased response to growth hormone stimulation test, Central diabetes insipi... |
ORPHA:293987 |
| Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypogonadotropic hypogonadism,... |
OMIM:176270 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Short stature, Cryptorchidism, Growth delay, Delayed puberty, Intraute... |
OMIM:616817 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Decreased circulating IgG level, Brachydactyly, Rhizomelia, Flat capital femoral epip... |
OMIM:271510 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Hypertension, Abdomin... |
OMIM:219090 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel... |
OMIM:617604 |
| Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Obesity, Type II diabetes mellitus, Arrhythmia, Synostosis of car... |
ORPHA:3191 |
| Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Short... |
ORPHA:59 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Severe short stature, Short stature, Delayed closure of the anter... |
OMIM:127000 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Failure to thrive, Hypothyroidism, Short stature |
OMIM:610883 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Congestive heart failur... |
ORPHA:860 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone s... |
ORPHA:3464 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... |
OMIM:618985 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... |
OMIM:618187 |
| Mungan Syndrome |
|
Barrett esophagus, Tricuspid regurgitation, Intestinal pseudo-obstruction, Gastroparesis, Hypoper... |
OMIM:611376 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... |
OMIM:269880 |
| Cocaine Intoxication |
|
Prolonged QT interval, Fever, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse ... |
ORPHA:90068 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Miscarriage, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
| Neuhauser Syndrome |
|
Osteopenia, Pes planus, Arachnodactyly, Genu recurvatum, Short stature, Micrognathia, Genu valgum... |
OMIM:249310 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
| Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Decreased serum insulin-like growth factor 1, Short stature, Rocker bottom foo... |
ORPHA:363528 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Elbow contracture, 2-3 toe syndactyly, ... |
OMIM:618162 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Gastroparesis, Left bundle branch block, Gastroesophageal reflux, ... |
OMIM:610131 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Hypothyroidism, Short stature, Decreased body weight |
OMIM:607906 |
| Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parat... |
OMIM:613388 |
| Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Renal ne... |
ORPHA:79474 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Confusion, ... |
ORPHA:79444 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Optic atrophy, Hy... |
ORPHA:1782 |
| Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Short stature, Broad ischia, Diaphyseal dysplasia, Scler... |
OMIM:619727 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Spondyloocular Syndrome |
|
Long toe, Osteopenia, Pes planus, Overlapping toe, Arachnodactyly, Femur fracture, Short stature,... |
OMIM:605822 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Intrahepatic cholestasis with episodic jaundice, Epistaxis, Diarrhea, Jaundice, Cholelithiasis, F... |
OMIM:211600 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Increased circulating lactate dehydrogenase concentration, Dysphagia |
ORPHA:254361 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Rhizomelia, Single transverse palmar crease, Broad femoral neck, Micrognathia, Short ... |
OMIM:611209 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Fever, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimo... |
ORPHA:83601 |
| Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Joint stiffness, Shor... |
OMIM:231050 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Pes planus, Congenital hip dislocation, Short stature, Joint hypermobility, Tapered f... |
OMIM:616007 |
| Adiposis Dolorosa |
|
Telangiectasia of the skin, Xerostomia, Obesity, Arthritis, Hypothyroidism |
ORPHA:36397 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Constipation, High pal... |
OMIM:162300 |
| Glutamine Deficiency, Congenital |
|
Flexion contracture, Bradycardia, Micromelia, Camptodactyly |
OMIM:610015 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Hypogonadism, Obesity |
OMIM:616629 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ... |
OMIM:602557 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal circulating enzyme concentration or activity, Cryptorchidism, Congenital foot contractur... |
ORPHA:565624 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Hip contracture, Internally rotated shoulders, Cleft sof... |
OMIM:619503 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Elevated circulating alkaline phosphat... |
OMIM:601847 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Genu ... |
ORPHA:2502 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Arachnodactyly, Short stature, Microcytic anemia, Hepatosplenomega... |
OMIM:619013 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... |
OMIM:300048 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
| Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Metopic synostosis, Wormian bones, ... |
OMIM:604757 |
| Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Achondrogenesis Type 1B |
|
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Disproportionat... |
ORPHA:93298 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated... |
ORPHA:79126 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Diarrhea, Jaundice... |
OMIM:607765 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Short stature, A... |
ORPHA:209905 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Encopresis, Diarrhea, Gastroesophageal ... |
ORPHA:589821 |
| Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin ... |
ORPHA:813 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, In... |
OMIM:616541 |
| Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu... |
OMIM:616602 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Growth delay, Rickets |
ORPHA:2088 |
| Lig4 Syndrome |
|
Small for gestational age, Cryptorchidism, Telangiectasia, Type II diabetes mellitus, Failure to ... |
OMIM:606593 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Elevated circulating aspartate am... |
OMIM:619573 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Cleft palate, Abnormal epiphysis morphology, A... |
ORPHA:2631 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh... |
OMIM:300106 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Severe short stature, Joint hypermobility, Hip subluxation, Wide anterior fonta... |
OMIM:618853 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... |
ORPHA:2019 |
| Rhizomelic Syndrome |
|
Rhizomelia, Short stature, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontane... |
OMIM:268250 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone o... |
ORPHA:175 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Camptodactyly, Intrauterine growth retardation, Thromb... |
OMIM:619751 |
| Achondrogenesis Type 1A |
|
Severe short stature, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifica... |
ORPHA:93299 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Vomiting, Int... |
OMIM:619381 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance |
ORPHA:75563 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Oculoskeletodental Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Splenomegaly, Elbow flexion contracture... |
OMIM:618440 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
| Leprechaunism |
|
Facial hypertrichosis, Reduced subcutaneous adipose tissue, Insulin resistance, Long penis, Hyper... |
ORPHA:508 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersple... |
ORPHA:228426 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Short long ... |
OMIM:619184 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Hypothyroidism, Short stature |
OMIM:618999 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, Short stature |
ORPHA:177910 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Flat acet... |
OMIM:256050 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Delayed puberty, Clinodactyly of the 5th finger, Intrauteri... |
ORPHA:52 |
| Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Absent metacarpal... |
OMIM:610797 |
| Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan... |
ORPHA:79443 |
| 4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... |
ORPHA:289494 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
| Neuroleptic Malignant Syndrome |
|
Fever, Elevated hepatic transaminase, Tachycardia, Proteinuria, Urinary incontinence, Hypothermia... |
ORPHA:94093 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Osteopenia, Short stature, Precoci... |
ORPHA:398069 |
| Cowden Syndrome 7 |
|
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... |
OMIM:616858 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Short stature, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion c... |
OMIM:300232 |
| Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Short stature |
ORPHA:3459 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
| Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp... |
ORPHA:1803 |
| Laurence-Moon Syndrome |
|
Cryptorchidism, Short stature, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
| Isolated Atp Synthase Deficiency |
|
Short stature, Dilated cardiomyopathy, Hypogonadism, Arrhythmia, Hypertrophic cardiomyopathy, Hyp... |
ORPHA:254913 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L... |
ORPHA:156728 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... |
ORPHA:429 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Metaphyseal dysplasia, Elevated hepatic transaminase, Neonatal insulin-dep... |
ORPHA:1667 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, A... |
OMIM:268300 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Reduced bone mineral density, Wormi... |
OMIM:112240 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Intrauterine growth retardation, Decreased circulating Ig... |
OMIM:620005 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Lig4 Syndrome |
|
Pancytopenia, Telangiectasia of the skin, Malabsorption, Micrognathia, Cryptorchidism, Leukocytos... |
ORPHA:99812 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Villous atrophy, Pancreatic fibrosis, Malabsorption, Chronic diarr... |
OMIM:557000 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... |
OMIM:240300 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Decreased respon... |
ORPHA:1855 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val... |
OMIM:618150 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polydipsia,... |
OMIM:615986 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutu... |
OMIM:615546 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Int... |
ORPHA:485405 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Micrognathia, Bowing of the legs, Metaphyseal widening, C... |
OMIM:255800 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Short stature, Obesity |
OMIM:616756 |
| Luscan-Lumish Syndrome |
|
Short stature, Shyness, Irregular menstruation, Advanced ossification of carpal bones, Obesity, P... |
OMIM:616831 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Cryptorchidis... |
ORPHA:10 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening... |
OMIM:608940 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ... |
OMIM:164900 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased circulating parathyroid hormone level, Patchy osteosclerosis, Micrognathia, Postnatal g... |
OMIM:241410 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Micromelia, Cryptorchidism, Limited elbow extension, Short metat... |
OMIM:180870 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... |
OMIM:611590 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Villous atrophy, Small for gestational age, Short stature, Increased mean p... |
OMIM:222470 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f... |
ORPHA:488434 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Intrauterine growth retardation, Short stature, Decreased ... |
ORPHA:1830 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar... |
OMIM:612394 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Inflammation of the large intestine, Hypothyroidism, Short stature, Osteoporosis, Inc... |
ORPHA:79259 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short stature, Short iliac bones, Raynaud phenomenon, Metaphyseal sclerosi... |
OMIM:607944 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Short ... |
OMIM:250420 |
| Smith-Magenis Syndrome |
|
Pes planus, Toe syndactyly, Failure to thrive in infancy, Short stature, Joint stiffness, Microgn... |
ORPHA:819 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... |
ORPHA:731 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Obesity |
ORPHA:276630 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Rickets |
OMIM:602722 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... |
ORPHA:1240 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Type II diabetes mellitus, Oligomenorrhea, Infertility, Type I diabetes mellitus, D... |
ORPHA:412057 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
| Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Short toe, Chronic diarrhea, Leukocytosis, Thyroiditis, Abnormal lymp... |
ORPHA:39041 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
| Gm1 Gangliosidosis |
|
Short stature, Camptodactyly of finger, Joint stiffness, Congestive heart failure, Splenomegaly, ... |
ORPHA:354 |
| C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Micromelia, ... |
OMIM:211750 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating dehydroepiandrosterone-sulfate concen... |
ORPHA:95699 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, ... |
OMIM:609053 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Constipation, Vomiting, Unexplained fevers, Polydipsia, Failure to thrive, ... |
OMIM:304800 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Decreased response to growth hormone stimulation test, S... |
ORPHA:94065 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Constipation, Vomiting, Unexplained fevers,... |
OMIM:125800 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Failure to thrive in infancy, Micrognathia, Tapered finger, Bilateral cleft lip and palate, Chron... |
OMIM:618829 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Short stature, Heart murmur, Pulmonic stenosis, Failure to thriv... |
ORPHA:3426 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, Cervical C2/C3 v... |
OMIM:617796 |
| 9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Postnatal growth retardation, Hip dysplasia, Polydactyly |
ORPHA:531151 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t... |
OMIM:300310 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fever, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemi... |
ORPHA:2126 |
| Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Achilles tendon contracture, Scapuloperoneal myopathy, Knee flexion contracture, Right bundle bra... |
OMIM:300695 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Brachydactyly, Micrognathia |
ORPHA:1277 |
| Three M Syndrome 1 |
|
Joint dislocation, Pes planus, Scapular winging, Short stature, Postnatal growth retardation, Hip... |
OMIM:273750 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Progressive neurologic deterioration, Elevated circulating creatinine concentr... |
ORPHA:247691 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... |
OMIM:620141 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Fever, Hyperpyrexia, Tachycardia, Retinal hemorrhage, Hyperhidrosis, Hypertension, Bradycardia, L... |
OMIM:614653 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Short stature, Large tarsal bones, Micrognathia, Flexion c... |
OMIM:215150 |
| Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Hypertension, Atrophic scars, Ischemic stroke, Gra... |
ORPHA:542643 |
| Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... |
ORPHA:2307 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Gastritis, Small for gestational age, Hepatoblastoma, Incr... |
ORPHA:84064 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Short stature, Craniosynostosis, Micrognathia, Mic... |
ORPHA:93329 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split hand, Cleft p... |
ORPHA:2145 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
| Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Diabetes mellitus, Small for gestational ag... |
ORPHA:125 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy... |
ORPHA:90154 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Thrombocytopenia, Pos... |
OMIM:612199 |
| Gomez-Lopez-Hernandez Syndrome |
|
Wormian bones, Wide anterior fontanel, Short stature, Craniosynostosis |
OMIM:601853 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Postnatal growth retardation, Lipoma, Obesity, Joint hypermobility |
ORPHA:480907 |
| Congenital Enterovirus Infection |
|
Fever, Hypothermia, Myocarditis, Cardiomyopathy, Hypotension |
ORPHA:292 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... |
ORPHA:848 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab... |
ORPHA:2167 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mitral regurgitation, Hypothyroidism, Short stature, Decreased circulating antibody level |
OMIM:619750 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Synophrys, Abnormal renal ... |
OMIM:182290 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... |
ORPHA:54595 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Schaaf-Yang Syndrome |
|
Short stature, Failure to thrive in infancy, Cryptorchidism, Flexion contracture, Obesity, Hypogo... |
OMIM:615547 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Cryptorchidism, Hypothyroidism |
OMIM:619908 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Pericarditis, Acute pancreatitis, Portal hyperte... |
OMIM:619487 |
| Seckel Syndrome 7 |
|
Intrauterine growth retardation, Severe short stature, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short sta... |
OMIM:300998 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Thrombocytopenia, Metaphyseal chondr... |
OMIM:260400 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Congenital hip dislocation, Foot joint contracture, Ulnar deviation of the 3rd... |
ORPHA:456312 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
| Cockayne Syndrome Type 1 |
|
Ataxia, Scarring, Foot joint contracture, Tremor, Gait disturbance, Difficulty walking, Increased... |
ORPHA:90321 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... |
OMIM:609541 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
| Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Micrognathia, Postnatal g... |
OMIM:614541 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi... |
ORPHA:1329 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,... |
ORPHA:556037 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Death in infancy, Short stature, Decreased response to growth hormone stimulation test, Lipodystr... |
OMIM:618922 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Pes planus, Arachnodactyly, Genu recurvatum, Craniosynostosis, Microgna... |
OMIM:182212 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... |
ORPHA:34217 |
| Nephrotic Syndrome, Type 1 |
|
Growth delay, Hypothyroidism, Small for gestational age |
OMIM:256300 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
| Momo Syndrome |
|
Short stature, Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, ... |
ORPHA:2563 |
| Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth |
ORPHA:199276 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... |
ORPHA:261529 |
| C3 Glomerulopathy |
|
Lipodystrophy, Elevated circulating creatinine concentration |
ORPHA:329918 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction |
ORPHA:206559 |
| Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Neonatal... |
OMIM:600972 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Joint stiffness, Micrognathia, Limitation of ... |
ORPHA:1801 |
| Cornelia De Lange Syndrome 5 |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Truncal obesity, Hypogonadism, Limit... |
OMIM:300882 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
| Achondrogenesis |
|
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of ... |
ORPHA:932 |
| Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Increased level of gamma-aminobutyric acid in urine, Aggressive behavior, ... |
OMIM:271980 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperflexibility, Decreased calvarial ossi... |
ORPHA:2772 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,... |
OMIM:171420 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... |
ORPHA:239 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Thyroid Hemiagenesis |
|
Thyroid agenesis, Macroglossia, Jaundice, Constipation |
ORPHA:95719 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short long bone, Talipes equinovarus |
OMIM:618845 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Dysphagia |
OMIM:616479 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
| Aspartylglucosaminuria |
|
Pes planus, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal corti... |
ORPHA:93 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Joint stiffness, Disproportionate short stature, Joint hyperflexibility... |
ORPHA:40 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... |
ORPHA:733 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, Increase... |
ORPHA:2169 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Hypoglycemia, Hypothermia, Aggressive behavior, Hyperhidrosis, Hepatic steatosis |
ORPHA:17 |
| Hallermann-Streiff Syndrome |
|
Recurrent fractures, Proportionate short stature, Micrognathia, Congestive heart failure, High, n... |
ORPHA:2108 |
| Xylt1-Cdg |
|
Joint laxity, Pes planus, Joint dislocation, Short stature, Coxa valga, Flared metaphysis, Growth... |
ORPHA:370930 |
| Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Talipes, Micromelia, Micrognathia, Metatars... |
ORPHA:35107 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, High palate, Short palm, Short phalanx of finger, Pseudoarthrosis, ... |
OMIM:166250 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Muscle Filaminopathy |
|
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction |
ORPHA:171445 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Severe short stature, Abno... |
ORPHA:93316 |
| Trisomy 5P |
|
Short stature, Obesity |
ORPHA:1742 |
| Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Gastroparesis, Flexion contracture, Elbow flexion contracture, Absen... |
ORPHA:70 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Abnormality of the gastrointestinal tract, Talipes, Craniosynostosis, Cryptorchidism,... |
ORPHA:453499 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Diabetes mellitus, Portal hypertension, Sagittal craniosynostosis, Hiatus hernia, Wid... |
OMIM:610199 |
| Yellow Fever |
|
Shock, Fever, Renal insufficiency, Anuria, Elevated circulating aspartate aminotransferase concen... |
ORPHA:99829 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy |
ORPHA:1177 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
| Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
| Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna... |
ORPHA:1328 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Growth delay, Death in childhood, Failure to thrive, Hypothyroidism |
OMIM:619147 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... |
ORPHA:273 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co... |
ORPHA:63446 |
| Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Sandal gap, Ulnar deviation of the wrist, Proximal ... |
ORPHA:79324 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, I... |
ORPHA:99827 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Obesity |
ORPHA:444002 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Pes planus, Short metacarpal, Broad hallux, Micrognathia, Postnatal growth retardat... |
ORPHA:439822 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
| Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... |
ORPHA:90652 |
| Monosomy 13Q34 |
|
Metrorrhagia, Epistaxis, Insulin resistance, Fetal pyelectasis, Obesity, Hematochezia, Horizontal... |
ORPHA:96168 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ... |
ORPHA:2050 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,... |
OMIM:269150 |
| Trichohepatoneurodevelopmental Syndrome |
|
Gastroesophageal reflux, High palate, Bilateral coxa valga, Clinodactyly of the 5th finger, Hypot... |
OMIM:618268 |
| Laron Syndrome |
|
Severe short stature, Abnormality of the endocrine system, Osteoarthritis, Hypohidrosis, Truncal ... |
ORPHA:633 |
| 3Mc Syndrome 1 |
|
Single interphalangeal crease of fifth finger, Postnatal growth retardation, Wide anterior fontan... |
OMIM:257920 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,... |
ORPHA:556030 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
| Larsen-Like Syndrome |
|
Joint laxity, Joint dislocation, Short stature, Wide anterior fontanel, Radial deviation of the 4... |
OMIM:608545 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, ... |
OMIM:263520 |
| Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Spina bifida occulta, Delayed closure of the anterior fontanelle, Lambdoida... |
OMIM:618736 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Intestinal polyposis, Short stature, Micrognathia, Osteolysis, Cleft palate... |
ORPHA:1052 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Diabetes mellitus, Short stature, Proximal placement of thumb,... |
OMIM:616263 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Abnormality of the lower limb, Hy... |
ORPHA:245 |
| Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Elevated circulating parathyroid hormone level, Rickets, Short stature |
OMIM:612089 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, High palate, Bradycardia |
OMIM:619272 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:264580 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,... |
OMIM:209900 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Optic atrophy, Hypothermia |
OMIM:618493 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Short stature, Tapered finger, Dysphagia, Right bundle branch block, Gro... |
OMIM:619576 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte... |
ORPHA:163654 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Aa Amyloidosis |
|
Malabsorption, Chronic diarrhea, Vomiting, Adrenal insufficiency, Hypotension, Hypothyroidism, Na... |
ORPHA:85445 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Short stature, Absent pubertal growth spurt, Obesity |
ORPHA:464282 |
| Serkal Syndrome |
|
Abnormality of the adrenal glands, Malrotation of small bowel, Pulmonic stenosis |
ORPHA:139466 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Pes planus, Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial sutu... |
ORPHA:357058 |
| Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
| 48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Pulmonary embolism, Cryptorchidism, Obesity, ... |
ORPHA:96263 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Tachycardia, Short stature, Sudden cardiac death, D... |
OMIM:614921 |
| Monosomy 18P |
|
Short stature, Micrognathia, Cleft palate, Hypertension, Hypothyroidism, Brachydactyly |
ORPHA:1598 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Right bundle branch block, Slender long bone, High palate, Joint hypermobility |
OMIM:618590 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Wormian bones, Brachydactyly |
ORPHA:2863 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... |
ORPHA:100078 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... |
OMIM:615673 |
| B4Galt1-Cdg |
|
Small for gestational age, Hypothyroidism |
ORPHA:79332 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
| Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Elevated hepatic transaminase, Acanthocytosis, Congestive heart fail... |
ORPHA:14 |
| Cdags Syndrome |
|
Sagittal craniosynostosis, Large fontanelles, Short ribs, Lambdoidal craniosynostosis, Short clav... |
OMIM:603116 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Tricuspid regurgitation, Impulsivity, Aggressive behavior, Trichorrhexis nodosa, Sinus ... |
OMIM:261990 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decreased body weight... |
OMIM:617306 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Short stature, Decreased response to growth hormone stimulation test, Bilateral cam... |
OMIM:619234 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Celiac disease, Postnatal growth... |
OMIM:212750 |
| Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Increased serum testosterone level, Abnormality of th... |
ORPHA:247768 |
| Rafiq Syndrome |
|
Joint laxity, Short stature, Flexion contracture, Obesity, Truncal obesity, Joint hypermobility |
OMIM:614202 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Short stature, Obesity, Genu valgum, Joint hyperflexibili... |
ORPHA:1035 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Acute... |
ORPHA:870 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Postnatal growth retardation, Capita... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Intestinal malrotation, Micromelia, Micrognathia, Postaxial polydactyly, Missing r... |
OMIM:617866 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys... |
ORPHA:94089 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Aganglionic megacolon, Underfolded superior helices |
OMIM:300352 |
| Camurati-Engelmann Disease |
|
Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thicke... |
OMIM:131300 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Short stature, Obesity |
OMIM:618124 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Intrauterine growth retardation, Hypothyroidism |
ORPHA:1923 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Micrognathia, Abnormality of the l... |
ORPHA:1556 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Hypertension, Truncal obesity, Abdominal obesity, Ty... |
OMIM:615812 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Short palm |
ORPHA:168555 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Diabetes mellitus, Angina pectoris, Obesity, Gout, Hypothyroidism |
ORPHA:412 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
| Fucosidosis |
|
Lipoatrophy, Failure to thrive, Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Short stature, Camptodactyly of finger, Abnormality of the hum... |
ORPHA:3138 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Short stature, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart... |
ORPHA:49827 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity |
OMIM:615996 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
| Atelis Syndrome 1 |
|
Hypothyroidism |
OMIM:620184 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, Wrist fl... |
ORPHA:800 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Cryptorchidism, Obesity, Radioulnar synostosis, Umbilical hernia |
ORPHA:171839 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Hypertension, Broad distal phalanx of finger, Hypothyroidism, Broad thumb, Brachyd... |
OMIM:617763 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa... |
ORPHA:794 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S... |
OMIM:192445 |
| Lead Poisoning |
|
Decreased female libido, Small for gestational age, Miscarriage, Abnormality of the menstrual cyc... |
ORPHA:330015 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Broad hallux, Micrognathia, Postnatal growth retardation, Ge... |
ORPHA:251028 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Joint stiffness, Supraventricular... |
ORPHA:98855 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary emb... |
ORPHA:567548 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Severe short stature, Diabetes mellitus, Short stature, Lipo... |
OMIM:270450 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Prolonged QT interval, Tachycardia, Streak ovary, Unilateral cryptorchidism, Sh... |
ORPHA:1772 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus, Hyperhidrosis |
OMIM:184850 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Pes planus, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, ... |
OMIM:607812 |
| Monosomy 18Q |
|
Pes planus, Left-to-right shunt, Arachnodactyly, Short stature, Tapered finger, Bilateral cryptor... |
ORPHA:1600 |
| Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Vomi... |
ORPHA:550 |
| Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Bloody diarrhea, Vomiting, Nausea, Internal hemorrhage, Hypovolemia, Bradycardia, Hypot... |
ORPHA:99826 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Hyperhidrosis |
ORPHA:79264 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Paronychia, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of ... |
ORPHA:79404 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Hypoplasia of the odontoid process, Split hand, F... |
OMIM:252500 |
| Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... |
ORPHA:2089 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Recurrent fractures, Osteolysis, Hypohidrosis, Growth delay... |
ORPHA:1764 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Diff... |
ORPHA:320406 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Short stature, Aplasia/Hypopla... |
OMIM:151050 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
| Zellweger Syndrome |
|
Epiphyseal stippling, Wide anterior fontanel, Short stature, Micrognathia |
ORPHA:912 |
| Image Syndrome |
|
Metaphyseal dysplasia, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism, Intrauterine... |
ORPHA:85173 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
| Dextrocardia |
|
Abnormal EKG, Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, T-wave inv... |
ORPHA:1666 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Diabetes insipidus, Short stature, Splenomegaly, Vasculitis, Multi... |
OMIM:225750 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio... |
ORPHA:1422 |
| Chung-Jansen Syndrome |
|
Cryptorchidism, Obesity, Joint hypermobility |
OMIM:617991 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Neutrophilia, Leukocytosis, Osteoporosis, Increased ... |
ORPHA:98849 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3... |
OMIM:601707 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Short stature, Micrognathia, Absent frontal sinuses, Osteoporosis, Oste... |
OMIM:102500 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures, Short stature |
OMIM:268315 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Death in ado... |
OMIM:612158 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Joint stiffness, Supraventricular... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Joint stiffness, Supraventricular... |
ORPHA:98853 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1563 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Split hand, Foot polydactyly, Phocomelia, Duodenal atresia |
ORPHA:3004 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Recurr... |
ORPHA:955 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis,... |
OMIM:617302 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Alopecia, Multiple joint contractures, Hypergonadotropic hypogonad... |
ORPHA:2959 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplastic iliac wing, Postnatal growth retardation, Limitation of joint mobility, Disproportion... |
OMIM:313400 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Inguinal hernia, Hypoglycemia, Hypothermia... |
ORPHA:565 |
| De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Short stature, Delayed closure of the anterior fontanelle... |
ORPHA:2962 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Telangiectasia of the skin, Short stature, Cryptorchidism, Umbilical hernia, Hypothyroidism |
ORPHA:85321 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Osteoporosis, Growth... |
ORPHA:2409 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Palpitations, Mitral stenosis, Meckel diverticulum, Abnormal gastrointest... |
ORPHA:2847 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Diarrhea, Peritonitis, Bloody diarrhea, Hypertension, Hemoglobinur... |
ORPHA:90038 |
| Jeune Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... |
ORPHA:474 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, Abnormal auditory evoked potentials, Hypothermia, Sensorineu... |
ORPHA:99027 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Thyroid Ectopia |
|
Abnormality of the thyroid gland, Jaundice, Macroglossia, Constipation, Ectopic thyroid, Hypothyr... |
ORPHA:95712 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
| Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Hypoglycemia, Anorexia, Agitation, Oral aversion, Hyperglycemia |
ORPHA:134 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Short stature, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, De... |
OMIM:300354 |
| Acromesomelic Dysplasia 4 |
|
Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radial bowing, Rhizomeli... |
OMIM:619636 |
| X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg... |
ORPHA:96201 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Pes planus, Congenital hip dislocation, Scapular winging, Wormian ... |
OMIM:278250 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur |
ORPHA:1054 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... |
ORPHA:453510 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Thick hair, Highly arched eyebrow, Overweight, Dilated cardiomyopathy, Reno... |
ORPHA:401923 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus totalis, Eleva... |
OMIM:613095 |
| Fragile X Tremor/Ataxia Syndrome |
|
Impotence, Premature ovarian insufficiency, Hypothyroidism |
OMIM:300623 |
| Ring Chromosome 12 Syndrome |
|
Small for gestational age, Cryptorchidism, Growth delay, Symphalangism of the thumb, Hypothyroidi... |
ORPHA:1439 |
| Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Metatarsus adductus, High palate, Clinodactyly, Hypothyroidism |
ORPHA:293939 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Joint stiffness, Supraventricular... |
ORPHA:98863 |
| 3Mc Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Hip dislocation, Limited pronation/supination of ... |
ORPHA:293843 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension, Optic nerve hypoplasia, Low-set ears |
OMIM:620029 |
| Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Talipes, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, A... |
ORPHA:1836 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Cog8-Cdg |
|
Elevated hepatic transaminase, Protein-losing enteropathy |
ORPHA:95428 |
| Potocki-Shaffer Syndrome |
|
Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Micrognathia, Cranial hyperostosis, Optic atro... |
OMIM:259720 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p... |
OMIM:302960 |
| Tenorio Syndrome |
|
Osteopenia, Delayed cranial suture closure, Hypoinsulinemia, Joint laxity |
OMIM:616260 |
| Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Micrognathia, Flared metaphysis, Hip... |
OMIM:309350 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Flexion contracture, Interphalangeal thumb joint contracture |
OMIM:613870 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Short stature, Joint hypermobility, Craniosynostosis, Obesity |
OMIM:619056 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn... |
ORPHA:1865 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Decreased ... |
ORPHA:508533 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Fl... |
OMIM:617301 |
| Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongu... |
ORPHA:653 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Decreased response to growth hormone stimulation test, Pinea... |
ORPHA:529962 |
| Sanjad-Sakati Syndrome |
|
Short stature, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Small hand, Sho... |
ORPHA:2323 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Failure to thrive, Multiple glomerular cysts, Cardiac conduction abnormality, Hypothermia,... |
ORPHA:255210 |
| Chromosome 1P35 Deletion Syndrome |
|
Short stature, Micrognathia, Cryptorchidism, Increased femoral anteversion, Congenital hypothyroi... |
OMIM:617930 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of fing... |
OMIM:266920 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short metatars... |
OMIM:617102 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Confusion, Myocarditis, Elevated c... |
ORPHA:36234 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Atretic gallbladder, Jaundice, Acholic stools, Fat malabsorption, ... |
ORPHA:30391 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Cryptorchidism, Synophrys, Increased body weight, Constipation, Gastroesophageal ref... |
ORPHA:589905 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
ORPHA:363741 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Hypoglycemia, Hypothermia |
ORPHA:79282 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Jaundice, Increased body weight |
ORPHA:890 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia, Short stature |
OMIM:134600 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Diabetes mellitus, Hypothyroidism |
ORPHA:98673 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing of toes, Cleft pala... |
ORPHA:1318 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Short stature, Hip dislocation, Large fontanell... |
OMIM:219150 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Osteopetrosi... |
ORPHA:3240 |
| Reni Syndrome |
|
Hypogonadism, Cryptorchidism, Hypothyroidism, Adrenal insufficiency |
OMIM:617575 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
| Odontochondrodysplasia |
|
Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyp... |
ORPHA:166272 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
| Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Heart block, Anteriorly placed anus, High palate, Dislocated radial head, Joi... |
OMIM:617063 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... |
ORPHA:968 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... |
ORPHA:49041 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Epiphyseal stip... |
OMIM:118650 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... |
ORPHA:79240 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Polydipsia, Decr... |
OMIM:613677 |
| 12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Micrognathia, Tremor, Osteopoikilosis, Clinodactyly of the 5th finger |
ORPHA:94063 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Intrauterine growth retardation, Hypothyroidism, Cardiac arrest, Cardiomyopathy |
OMIM:617713 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Renal salt wasting, Nephrocalcinosis, Vomiting, Increased circulating renin ... |
OMIM:601678 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Primary hyperparathyroidism, Hypercalciuria, Aminoaciduria, Elevated... |
OMIM:239200 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Dysphori... |
OMIM:620242 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Hyp... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Hyp... |
ORPHA:352665 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... |
OMIM:601346 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Fl... |
ORPHA:35069 |
| Graft Versus Host Disease |
|
Dupuytren contracture, Tachycardia, Fasciitis, Lipodystrophy, Limited elbow movement, Limited sho... |
ORPHA:39812 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Pop... |
OMIM:119800 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Osteomalacia, Camptodactyly of finger, Wrist swelling, Postnatal growth retardatio... |
OMIM:309000 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Tarsal synostosis, Aplastic clavicle, Micrognathia, Wide anterior fon... |
ORPHA:85199 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
| Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis,... |
ORPHA:300298 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity |
ORPHA:464288 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Elevated hemoglobin A1c, Delayed cranial suture closure, Decreased fibula... |
OMIM:619127 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, Proteinuria, L... |
OMIM:616026 |
| Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
| Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Intermittent hypothermia, Hypotension, Hyperhidrosis |
OMIM:608643 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Neutropenia, Hypothyroidism, Hypoparathyro... |
ORPHA:699 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, Short stature |
ORPHA:85280 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Obesity, Growth delay, Type I diabet... |
OMIM:619269 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pedal edema, Pa... |
ORPHA:77259 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis, Obesity, Hypogonadism, Polydipsia |
OMIM:615994 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
| Desbuquois Dysplasia 1 |
|
Joint laxity, Severe short stature, Osteoarthritis, Osteoporosis, Advanced ossification of carpal... |
OMIM:251450 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Short stature, High, narrow palate, Cryptorchidism, Pyloric ste... |
ORPHA:96169 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Ataxia, Recurrent fractures, Elevated ... |
ORPHA:355 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence |
OMIM:179270 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly... |
ORPHA:935 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocat... |
OMIM:241800 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... |
ORPHA:83471 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Growth delay, Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Proportionate short stature, Postnatal growth retardation, Abnorm... |
ORPHA:79345 |
| Scedosporiosis |
|
Pericarditis, Diabetes mellitus, Abnormal jejunum morphology |
ORPHA:449280 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duodenal stenosis |
ORPHA:2547 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ... |
OMIM:115310 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Obesity, Limited shoulder movement |
OMIM:618821 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopet... |
OMIM:612840 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal salt wasting, Nephrocalcinosis, Vomiting, Increased circulating renin level, Renal potassiu... |
OMIM:241200 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| Cowden Syndrome |
|
Short stature, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Enlarged polycysti... |
ORPHA:201 |
| Fanconi Anemia, Complementation Group O |
|
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, ... |
OMIM:613390 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Sandal gap, Micrognathia, High, narrow palate, Diarrhea, Knee flex... |
ORPHA:79322 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Short stature, Micromelia, Abnormal thumb morphology, Aplasia/Hy... |
ORPHA:1597 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Flexion contracture, Obesity, Macroorchidism, Male hypogonadism, Wrist flexion contracture |
OMIM:300055 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Clubbing of fingers, Volvulus, Decrea... |
ORPHA:335 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Carpenter Syndrome |
|
Cryptorchidism, Umbilical hernia, Obesity, Craniosynostosis |
ORPHA:65759 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100080 |
| Hereditary Coproporphyria |
|
Fever, Dark urine, Tachycardia, Extension of hair growth on temples to lateral eyebrow, Porphyrin... |
ORPHA:79273 |
| Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Intestinal malrotation, Cleft palate, Euthyroid goiter, High palate, ... |
OMIM:113650 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog... |
OMIM:618397 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction, Obesity |
OMIM:618620 |
| Bohring-Opitz Syndrome |
|
Short stature, Micrognathia, Limitation of joint mobility, Bilateral wrist flexion contracture, C... |
ORPHA:97297 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion... |
OMIM:164745 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc... |
OMIM:612561 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Adrenocortical adenoma, Pheochromocytoma,... |
ORPHA:139411 |
| Scorpion Envenomation |
|
Bundle branch block, Vomiting, Prominent U wave, Hyperglycemia, Priapism, Ketonuria, Elevated cir... |
ORPHA:466677 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Cryptorchidism, Truncal obesity, Joint hyperflexibility, Hypogonadism, Camptodacty... |
ORPHA:127 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase... |
ORPHA:845 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Micrognathia, Large fontanelles, Mandibular aplasia, Intrauterine growth retardation, Delayed cra... |
ORPHA:1832 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper... |
ORPHA:99413 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Failure to thrive in infancy |
ORPHA:264675 |
| Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper... |
ORPHA:99228 |
| Monosomy X |
|
Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper... |
ORPHA:99226 |
| Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper... |
ORPHA:881 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... |
ORPHA:99885 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Secretory diarrhe... |
OMIM:618183 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Cog1-Cdg |
|
Osteopenia, Rhizomelia, Micrognathia, Coxa valga, Postnatal growth retardation, Flat acetabular r... |
ORPHA:263508 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Retinal crystals, Op... |
OMIM:259900 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia |
OMIM:300946 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Talipes, Flexion contracture, Gastroesophageal reflux, Limb undergrowt... |
ORPHA:79243 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Carpenter Syndrome 1 |
|
Omphalocele, Short stature, Sagittal craniosynostosis, Precocious puberty, Cryptorchidism, Obesit... |
OMIM:201000 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Small h... |
ORPHA:3121 |
| Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Encephalitis Lethargica |
|
Fever, Bradycardia |
ORPHA:83600 |
| Porphyria Variegata |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... |
ORPHA:79473 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Micrognathia, M... |
OMIM:214100 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Micrognathia, Anemia, Elliptocytosis, Talipes equinovarus, Broa... |
OMIM:300990 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Truncal obesity, Hy... |
ORPHA:3041 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Short stature, Obesity, Death in infancy |
OMIM:618822 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Short stature, Tracheomalacia, Micrognathia, Delayed ... |
OMIM:300373 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulating long chain... |
OMIM:608836 |
| 13Q12.3 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Intrauter... |
ORPHA:412035 |
| Hall-Riggs Syndrome |
|
Short stature, Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphy... |
ORPHA:2107 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulat... |
OMIM:227810 |
| Wagr Syndrome |
|
Cryptorchidism, Short stature, Obesity |
ORPHA:893 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
| Microtriplication 11Q24.1 |
|
Limitation of joint mobility, Short stature, Obesity |
ORPHA:289522 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behavior, Splenomeg... |
OMIM:252920 |
| Bardet-Biedl Syndrome |
|
Short stature, Cryptorchidism, Obesity, Hypertension, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Radioulnar sy... |
OMIM:248700 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Growth delay, Cardiomyopathy, Bone marrow hypocellularity, Infecti... |
ORPHA:445038 |
| Tularemia |
|
Tachycardia, Increased circulating antibody level |
ORPHA:3392 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Pes planus, Tricuspid regurgitation, Short stature, Monkey wrenc... |
OMIM:618870 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, Joint ... |
ORPHA:85293 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Small for gestational age, Short stature, Cryptorchidism... |
OMIM:300957 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia |
ORPHA:1237 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Metatarsus ad... |
OMIM:614866 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Micrognathia, Splenomegaly, Split hand, Large fontanelles, Hammertoe, Talipes equinov... |
OMIM:261515 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydactyly... |
OMIM:235255 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Pes planus, Congenital hip dislocation, Short stature, Delayed closure of the anterio... |
ORPHA:2834 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Short stature, Obesity |
ORPHA:1193 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Hypertension, Enuresis, Hyperaldosteronism, Increased... |
OMIM:612780 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Joint laxity, Obesity, Tall stature |
OMIM:300602 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postnatal growth retardation,... |
OMIM:300963 |
| Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Short stature, Single transverse palmar crease, Coxa valga, Micrognathia,... |
OMIM:619297 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den... |
ORPHA:2911 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
| Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Short stature, Rocker bottom foot, Craniosynostosis, Tapered finger, Pos... |
ORPHA:1272 |
| Hallermann-Streiff Syndrome |
|
Wormian bones, Abnormality of the hand, Micrognathia, Proportionate short stature, Metaphyseal wi... |
OMIM:234100 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt... |
OMIM:619339 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Hematemesis, Thrombocytopenia, Diarrhea, Vasc... |
OMIM:615846 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Gastroesophageal reflux, Vomiting, High palate, Joint l... |
OMIM:613658 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Raynaud p... |
ORPHA:740 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Hydrocele testis, Chronic constipation, Decreased circulating antibody level,... |
ORPHA:79330 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Joint stiffness, Motor deterioration, Dense calvaria, Dysphagia, Rod-cone dystrophy |
OMIM:252930 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Malignant hyperthermia, Hypotension |
OMIM:145600 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... |
OMIM:163400 |
| Septo-Optic Dysplasia Spectrum |
|
Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Hypohid... |
ORPHA:3157 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low... |
OMIM:300860 |
| Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
| Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy... |
ORPHA:2655 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retardation |
OMIM:618541 |
| Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, High, narrow palate, Hepatoblastoma, Clinodactyl... |
ORPHA:373 |
| Fanconi Anemia, Complementation Group W |
|
Absent thumb, Hypoplasia of the radius, Growth delay, Polysplenia, Abnormal radial ray morphology... |
OMIM:617784 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab... |
ORPHA:760 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Hypertension, Hypothyroidism, Rheumatoid arthritis |
ORPHA:98808 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,... |
OMIM:171300 |
| 3Mc Syndrome 2 |
|
Limited elbow movement, Craniosynostosis, Postnatal growth retardation, Hip dislocation, Radiouln... |
OMIM:265050 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Ataxia, Confusion, Abnormal circulating fatty-acid concentra... |
ORPHA:139396 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary... |
OMIM:616963 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges o... |
OMIM:615630 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh... |
OMIM:614524 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Micrognathia, Hip dislocation,... |
ORPHA:534 |
| Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum,... |
OMIM:616145 |
| Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdural hemorrhage, Cleft p... |
OMIM:311900 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Short attention span, Hyperactivity, Broad-based gait, Ataxia, ... |
ORPHA:98794 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Vomiting, Hypergly... |
OMIM:615453 |
| Ohdo Syndrome, Sbbys Variant |
|
Micrognathia, Cryptorchidism, Dilated cardiomyopathy, Cleft palate, Patellar dislocation, Long th... |
OMIM:603736 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Elevated circulating creatinine concentration |
OMIM:614376 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Increased circulating IgE l... |
OMIM:617241 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal circulating enzyme concentration or activity, Hypothyroidism, Abnormal tibia... |
ORPHA:909 |
| Interstitial Lung And Liver Disease |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615486 |
| Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Bowel incontinence, Abnormal stomach morph... |
ORPHA:512 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hepatocellular carc... |
OMIM:176000 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia... |
OMIM:610217 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:100082 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Joint sublux... |
OMIM:617821 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Weight loss, Syncope, Infertility |
ORPHA:71273 |
| Coffin-Siris Syndrome 6 |
|
Short stature, Micrognathia, Wormian bones, Clinodactyly, Brachydactyly |
OMIM:617808 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Hypothyroidism, Split hand, Short 4th toe, Short 3rd ... |
OMIM:618569 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Short proximal phalanx of finger, Wide anterior fontanel, Decreased circulating IgA l... |
OMIM:616638 |
| Webb-Dattani Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Aganglionic megacolon, Short stature, Protruding tongue, Hypoplastic il... |
OMIM:190685 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Micrognathia, Microcytic anemia, Short toe, Flexion contracture, Talipes equinovarus, HbH hemoglobin |
ORPHA:98791 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia, Dysphagia, Failure... |
OMIM:617248 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Volvulus, Tracheoesophageal fi... |
ORPHA:210122 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Short stature, Obesity, Tall stature |
OMIM:618089 |
| Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Short stature, Craniosynostosis, Limited wrist movement... |
ORPHA:576 |
| Joubert Syndrome 37 |
|
Short stature, Cryptorchidism, Obesity, Decreased testicular size, Joint hypermobility |
OMIM:619185 |
| Infantile Nephropathic Cystinosis |
|
Growth delay, Failure to thrive, Rickets, Abnormality of thyroid physiology |
ORPHA:411629 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Positional foot ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Positional foot ... |
ORPHA:363958 |
| Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Martin-Probst Syndrome |
|
Short stature, Cryptorchidism, Telangiectasia, Chordee, Hypoplastic nipples, Umbilical hernia, Hy... |
OMIM:300519 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Short stature, Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia |
OMIM:617877 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pes planus, Persistent open anterior fontanelle, Pelvic bone exostos... |
OMIM:304150 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Hypohid... |
ORPHA:1812 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Small for gestational age, Sandal gap, Craniosynostosis, Oral-pharyngeal dysphagia... |
ORPHA:506358 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia |
OMIM:272800 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Clino... |
OMIM:180860 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Cervical C2/C3 vertebral fu... |
ORPHA:444077 |
| Marshall-Smith Syndrome |
|
Hallux valgus, Microretrognathia, Decreased hip abduction, Large sternal ossification centers, Re... |
OMIM:602535 |
| Microform Holoprosencephaly |
|
Short stature, Maternal diabetes, Panhypopituitarism, Intrauterine growth retardation, Hypothyroi... |
ORPHA:280200 |
| Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Wide anterior fontanel,... |
ORPHA:2021 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Short stature, Cleft soft palate, Micrognathia, Cryptorchidism, Partial duplicatio... |
OMIM:616331 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Humeroradial synosto... |
ORPHA:3404 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... |
ORPHA:90794 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... |
ORPHA:261222 |
| Acrocallosal Syndrome |
|
Wide anterior fontanel, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:36 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Small hand, Narrow palate,... |
OMIM:235510 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hypotension |
OMIM:203400 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
| Laurence-Moon Syndrome |
|
Short stature, Obesity |
OMIM:245800 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Dysphagia |
ORPHA:268 |
| Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Retinal degeneration, Tremor, Abnormal foot morphology... |
OMIM:234200 |
| Williams-Beuren Syndrome |
|
Osteopenia, Rectal prolapse, Flexion contracture, Early onset of sexual maturation, Gastroesophag... |
OMIM:194050 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased sus... |
OMIM:259770 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Sh... |
OMIM:154400 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi... |
OMIM:617600 |
| Slc39A8-Cdg |
|
Osteopenia, Failure to thrive in infancy, Short stature, Craniosynostosis, Elbow flexion contract... |
ORPHA:468699 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
| Leopard Syndrome 1 |
|
Bundle branch block, Short stature, Limited elbow movement, Missing ribs, Delayed menarche, Crypt... |
OMIM:151100 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Gastroesophageal reflux, Clinodactyly of the 5th finger, Hypothyroidis... |
ORPHA:1606 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery p... |
OMIM:619351 |
| Rett Syndrome |
|
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
| Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Severe short stature, Rhizomelia, Bowel incontinence, Congestive heart failure, Wi... |
OMIM:616482 |
| Cornelia De Lange Syndrome 1 |
|
Short stature, Single transverse palmar crease, Proximal placement of thumb, Micromelia, Microgna... |
OMIM:122470 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... |
OMIM:259730 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
| Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ... |
ORPHA:2388 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... |
ORPHA:43 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck... |
OMIM:617159 |
| Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Spastic... |
OMIM:207800 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Overweight, Intrahepatic cholestasis, Obesity, ... |
ORPHA:69663 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
| Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the tibia, Bifid uvula, Genu... |
ORPHA:2753 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl... |
ORPHA:268261 |
| Sotos Syndrome |
|
Tall stature, Abnormality of the kidney, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Inc... |
OMIM:117550 |
| Williams Syndrome |
|
Osteopenia, Myocardial infarction, Micrognathia, Rectal prolapse, Gastroesophageal reflux, Clinod... |
ORPHA:904 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Telangiectasia |
ORPHA:459033 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
| Coffin-Siris Syndrome 12 |
|
Joint laxity, Elevated hepatic transaminase, Short stature, Micrognathia, Hip subluxation, Short ... |
OMIM:619325 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Macroglossia, Dysphagia, A... |
ORPHA:79107 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
| Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia, Cleft palat... |
OMIM:115470 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Obesity |
OMIM:600151 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Congenital hypothyroidism,... |
OMIM:617527 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Osteolysis, Abnormal epiphysis morphology,... |
ORPHA:35687 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Hypertrichosis Cubiti |
|
Joint hyperflexibility, Severe short stature, Rhizomelia, Micromelia |
ORPHA:2220 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... |
OMIM:614091 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of e... |
ORPHA:93111 |
| Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal... |
OMIM:259775 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Optic atrophy, Ataxia, Exaggerated startle response |
OMIM:616881 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Short stature, Craniosynostosis, Cryptorchidism, Right bundle branch blo... |
OMIM:617506 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Multiple enchondromatosis, Hammertoe, Multinodular goiter, Adenocarcinoma of the colon |
OMIM:620189 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Polydipsia, Elevated circulating creatinine concentration, Congeni... |
ORPHA:2260 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut... |
ORPHA:52503 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urinary potassium,... |
OMIM:613090 |
| Acrofrontofacionasal Dysostosis |
|
Short stature, Camptodactyly of finger, Micromelia, Cleft palate, High palate, Abnormal epiphysis... |
ORPHA:1784 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal circulating enzyme concentration or activity, Pancytopenia, Short stature, Recurrent fra... |
ORPHA:2785 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Jo... |
OMIM:617864 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Wide cranial sutures, Broad long bones, Short stature, Fifth finger distal phalanx clinodactyly, ... |
OMIM:257850 |
| Wilson Disease |
|
Acute hepatic failure, Elevated hepatic transaminase, Aggressive behavior, Abnormality of the men... |
ORPHA:905 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Short stature, Wide anterior fontanel, Hand polydactyly, Broad thumb |
OMIM:239710 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Pes planus, Genu recurvatum, Postnatal growth retardation, Hip dislocat... |
ORPHA:90348 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Abnormal temper t... |
ORPHA:163681 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab... |
OMIM:214800 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hypotension |
OMIM:264350 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Pes planus, Congenital hip dislocation, Wide anterior fontanel, Intrauterine growth retardation, ... |
OMIM:219200 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Wide anterior fontanel, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Mohr Syndrome |
|
Syndactyly, Wormian bones, Short stature, Micrognathia, Preaxial hand polydactyly, Postaxial hand... |
OMIM:252100 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Restrictive Dermopathy 1 |
|
Limb joint contracture, Rocker bottom foot, Micrognathia, Ankylosis, Wide anterior fontanel, Flex... |
OMIM:275210 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Short stature, Abnormality of thyroid physiology, Postaxial polydactyly, Lower limb... |
OMIM:300968 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly, Wide anterior fontanel |
OMIM:619736 |
| Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
| Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Hypoglycemia, Sparse eyelashes, Large for gestational age, Agg... |
OMIM:619075 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P... |
OMIM:160980 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity |
OMIM:604360 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Achilles tendon contracture, Obesity, Heart murmur |
OMIM:615418 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointest... |
OMIM:270400 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Steato... |
ORPHA:440713 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... |
ORPHA:1435 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndac... |
OMIM:107480 |
| Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Short stature, Myocardial infarction, Cryptorchidism, Growth delay, Arrhythm... |
ORPHA:500 |
| Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni... |
OMIM:105650 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Macroorchidi... |
ORPHA:284180 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Short stature, Osteomalacia, Rickets, Increased susceptibility to fractures, Re... |
ORPHA:18 |
| Hyperlysinemia |
|
Short attention span, Hyperactivity, Tremor, Argininuria, Hyperammonemia, Dysmetria, Cystinuria, ... |
ORPHA:2203 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Short stature, Micrognathia, Absent thumb, Short thumb, Hypoplasia of the radius, G... |
OMIM:613951 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Fasciitis, Unexplained fevers, Impulsivity, Hypothermia, Chronic kidn... |
ORPHA:642 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Growth delay, Short palm, Intrauterine growth... |
ORPHA:238750 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Osteopenia, Craniosynostosis, Precocious puberty, Obesity, Decreased circulat... |
ORPHA:369837 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa... |
OMIM:155310 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Craniosynostosis, Obesity, Impaired social interactions, Failure... |
ORPHA:261197 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Elevated gamma-glutamyltransferase level, Clinodactyly of the 5th finger,... |
OMIM:243800 |
| Scleromyxedema |
|
Raynaud phenomenon, Paraproteinemia, Transient ischemic attack, Abnormality of thyroid physiology |
ORPHA:167635 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Micrognathia, Joint hyperflexibility, Wormian... |
ORPHA:2789 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Hyperhidrosis |
ORPHA:43116 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
| Cohen Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
OMIM:216550 |
| Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Wide anterior fontanel, Growth delay, Hand clen... |
OMIM:616920 |
| Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Hypotension, Atrial septal defect, Patent foramen ovale, Decreased bod... |
OMIM:615668 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Hepatitis, Bloody diarr... |
ORPHA:436252 |
| Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| 3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Postaxi... |
ORPHA:435638 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation, Clin... |
OMIM:618056 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Large for gestational age, Obesity, Decreased circulating antibody level, Hydrocele... |
OMIM:605309 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... |
ORPHA:233 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Talipe... |
OMIM:224410 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... |
ORPHA:521426 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Chronic diarrhea... |
ORPHA:500055 |
| Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93924 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Wei... |
ORPHA:97287 |
| Thanatophoric Dysplasia Type 2 |
|
Short stature, Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphy... |
ORPHA:93274 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyop... |
OMIM:229300 |
| Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Dental enamel pits, Precocious puberty, Hypothyroidism, Shagreen ... |
OMIM:191100 |
| Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hypocalciuria, P... |
OMIM:617671 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Growth delay, Iron deficiency anemia |
ORPHA:309031 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Overlapping fingers, Flexion contracture, Overlapping toe, Delayed cranial suture closure |
OMIM:619383 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Median cleft lip and palate, Intestinal malrotation, Hamartoma of tongue, B... |
OMIM:269860 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Micrognathia, Sclerosis of skull base, Wormian bones, Joint hype... |
OMIM:130720 |
| Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Short stature, Metatarsus adductus, Premature osteoarthritis, Large fontane... |
OMIM:611962 |
| 8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Finger clinodactyly, Gastroesophageal reflux, Clinodactyl... |
ORPHA:508488 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Synophrys, Renal cyst, Gastroesophageal reflux, Hernia, Vesicoureteral reflu... |
ORPHA:261494 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Precocious puberty, Disproportionate short stature, Coxa vara, Truncal obesity, Joint... |
ORPHA:2637 |
| 6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Diabetes mellitus, Cryptorchidism, Obesity, Hypogonadism, Pathologic fracture |
OMIM:614231 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Obesity, Primary amenorrhea, Bilateral breast hypoplasia, Severe postnatal growth ... |
ORPHA:319675 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Postnatal growth retardation, Failure to thrive, Impaired social interactions, Central hypothyroi... |
OMIM:300912 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Reduced bone mineral den... |
ORPHA:667 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Short stature, Brachydactyly |
OMIM:613819 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
| Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma, Myeloid leukemi... |
ORPHA:798 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Growth dela... |
OMIM:617247 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... |
ORPHA:91500 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Death in infancy, Failure to thrive, Obesity |
OMIM:610543 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger ... |
OMIM:603467 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Flexion contracture, Reduced bone mineral density, Knee flexion contrac... |
OMIM:259050 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Cryptorch... |
ORPHA:438213 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Femoral bowing, Short long bone, Hypoplasia of the thymus, Talipes equi... |
OMIM:617022 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Joint stiffness, Congestive heart failure, Flexion contract... |
ORPHA:505248 |
| Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum |
OMIM:616395 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Joint laxity, Pes planus, Tricuspid regurgitation, Overlapping toe, Short s... |
OMIM:617402 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Ataxia, Osteolysis, Increased susceptibility to fractures, Dement... |
ORPHA:77261 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Abnormal left ventricular function, Aminoaciduria, Vomiting, Hypospa... |
OMIM:619991 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:605676 |
| 46,Xy Sex Reversal 1 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... |
OMIM:400044 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hypotension |
OMIM:177735 |
| Acute Intermittent Porphyria |
|
Fever, Restlessness, Tachycardia, Abnormal circulating enzyme concentration or activity, Renal in... |
ORPHA:79276 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Optic atrophy, Intracranial hemorrhage, Diffuse optic disc pallor, Hearing... |
ORPHA:86309 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Weight loss |
ORPHA:35858 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydactyly, High palate, Protein-los... |
ORPHA:1655 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Micrognathia, High, narrow palate, Generalized joint laxi... |
OMIM:619472 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Sinus bradycardia, Chronic constipation, Gastroesophageal reflux, D... |
OMIM:619482 |
| High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro... |
OMIM:612813 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
| Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Abnormal circulating cholesterol concentrat... |
OMIM:602398 |
| Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... |
ORPHA:48818 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Cryptorchidism, Disproportionate tall stature, Mitral regurgitation, Abdominal obes... |
OMIM:301039 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Inguinal hernia, Femoral hernia, Cryptorchidism, Obesity, Growth delay, Aor... |
ORPHA:96147 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Pulmonary arterial hypertension, Supernumerary nipple, Congenital hypothyroidism |
ORPHA:2519 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Congenital hip dislocation, Small for gestational age, Limb joint ... |
ORPHA:404454 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Short foot, ... |
OMIM:617809 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Wide anterior fontanel, Short palm, Trache... |
OMIM:217980 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... |
ORPHA:411634 |
| Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c... |
OMIM:250790 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Impotence, Hypothyroidism, Hypotension |
ORPHA:93256 |
| Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ped... |
OMIM:277900 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ankle clonus, Exaggerated startle response, Overlapping toe, Ataxia |
OMIM:618598 |
| Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cr... |
ORPHA:264450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... |
OMIM:253800 |
| Megalencephaly |
|
Macroorchidism, Truncal obesity |
ORPHA:2477 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Inguinal hernia, Macrocytic anemia, Ventricular septal defect, Congenital diaphrag... |
OMIM:614294 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Analbuminemia |
|
Hypotension |
OMIM:616000 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Growth dela... |
ORPHA:251071 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| White-Kernohan Syndrome |
|
Joint laxity, Obesity, Anteriorly placed anus, Hip dysplasia, Gastroesophageal reflux, Rectovagin... |
OMIM:619426 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Kagami-Ogata Syndrome |
|
Micrognathia, Coxa valga, Long fingers, Splenomegaly, Flexion contracture, Pulmonic stenosis, Lim... |
OMIM:608149 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Pes planus, Elbow dislocation, Abnormal foot morphology, Osteoarthritis, Limit... |
ORPHA:285 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Streak ovary, Obesity |
OMIM:194072 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Short stature, Cryptorchidism, Obesity, Joint hyperflexibility, Del... |
ORPHA:193 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Miscarriage, Obesity, Increased circulating antibody le... |
ORPHA:86816 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Hypoparathyroidism, Micromelia, Abnormal circulating calcium-phosphate regulati... |
ORPHA:50810 |
| Lessel-Kreienkamp Syndrome |
|
Clinodactyly of the 5th finger, Wide cranial sutures |
OMIM:619149 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Overlapping toe, Small for gestational age, Short stature, Protruding tongue, Micro... |
ORPHA:99843 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated cir... |
ORPHA:99880 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
| Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial polydactyly, Micro... |
ORPHA:2886 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Obesity, Joint hypermobility |
OMIM:620191 |
| Microphthalmia, Syndromic 6 |
|
Abnormality of the hypothalamus-pituitary axis, Finger syndactyly, Thumb contracture, Toe syndact... |
OMIM:607932 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Short distal phalanx of finger |
OMIM:118450 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
| Angelman Syndrome |
|
Inappropriate laughter, Delayed menarche, Precocious puberty in females, Obesity |
ORPHA:72 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Multiple joint contractures, Broad hallux, Single transverse palmar crease, Delayed c... |
OMIM:305450 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Abnormality of the kidney, Large for gestational age, Precocious puberty, Self-i... |
ORPHA:261652 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity |
OMIM:619312 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
| Lymphatic Malformation 6 |
|
Hydrocele testis, Hypothyroidism, Short stature, Cellulitis |
OMIM:616843 |
| Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbo... |
ORPHA:3015 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized ... |
ORPHA:416 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Fat malabsorption, Diabetes insipidus, Diarrhea |
ORPHA:96180 |
| Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Townes-Brocks Syndrome |
|
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Hypothyroidism, Broa... |
ORPHA:857 |
| Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Congenital hip dislocation, Micrognathia, Cryptorchidism, Hypothy... |
OMIM:606170 |
| Parathyroid Carcinoma |
|
Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated cir... |
ORPHA:143 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... |
ORPHA:100075 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
| Tetrasomy 5P |
|
Overlapping toe, Short hallux, Micrognathia, Postnatal growth retardation, Long fingers, Wide ant... |
ORPHA:3309 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Gastroesophageal reflux, High palate, Clinodactyly of the 5th finger, Hypothyroidism, Bifid uvula... |
OMIM:607872 |
| Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| White-Sutton Syndrome |
|
Joint laxity, Short stature, Micrognathia, Hypoplastic cervical vertebrae, Broad foot, Wormian bo... |
OMIM:616364 |
| 2Q37 Microdeletion Syndrome |
|
Short stature, Supernumerary nipple, Congenital diaphragmatic hernia, Obesity, Joint hyperflexibi... |
ORPHA:1001 |
| Mucopolysaccharidosis Type 2 |
|
Progressive neurologic deterioration, Abnormal repetitive mannerisms, Retinal degeneration, Oppos... |
ORPHA:580 |
| Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Intestinal malrotation, Short ... |
OMIM:620305 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Short stature, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, La... |
ORPHA:97685 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Short stature, Mesomelia, Camptodactyl... |
OMIM:618529 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... |
OMIM:615503 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia |
ORPHA:291 |
| Neonatal Adrenoleukodystrophy |
|
Wide anterior fontanel, Short stature, Bilateral single transverse palmar creases |
ORPHA:44 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618430 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Micrognath... |
OMIM:613457 |
| Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse... |
OMIM:117650 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Fever, Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Cardiomegaly, Progressive psychomotor deterioration, Hepato... |
OMIM:268800 |
| Microphthalmia, Syndromic 2 |
|
Broad hallux, Sandal gap, Short stature, Cryptorchidism, 2-3 toe cutaneous syndactyly, Flexion co... |
OMIM:300166 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Diabetes mellitus, Gastritis, Epistaxis, Hematemesis, ... |
ORPHA:73263 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Death in childhood |
OMIM:618321 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Tapered finger, Short femur, Short humerus, Dysphagia |
OMIM:618367 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Flexion contr... |
OMIM:264090 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, As... |
OMIM:617746 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Disproportion... |
OMIM:619479 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Diabetes mellitus, Short stature, Lipoatrophy, Raynaud phenomenon, A... |
ORPHA:51 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, Prominent fingertip p... |
OMIM:147920 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Hypothyroidism, Wolff-Parkinson-White syndrome, Shagreen patch |
OMIM:613254 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Maternal diabetes, Short thumb, Anteriorly... |
ORPHA:1708 |
| Ogden Syndrome |
|
Inguinal hernia, Short stature, Maternal diabetes, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:300855 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Death in adolescence, Decreased body weight, Intrauterine growth retardation... |
OMIM:619229 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Hypoplasia of the sm... |
OMIM:200995 |
| Schisis Association |
|
Small for gestational age, Micromelia, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... |
OMIM:620152 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Esophageal atresi... |
ORPHA:87 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes, Micromelia, Micrognat... |
ORPHA:1908 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... |
OMIM:614098 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Digeorge Syndrome |
|
Inguinal hernia, Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone l... |
OMIM:188400 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Degcags Syndrome |
|
Osteopenia, Tachycardia, Small for gestational age, Craniosynostosis, Hiatus hernia, Cryptorchidi... |
OMIM:619488 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Micromelia, Hepatosplenomegaly |
OMIM:273680 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
| Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 2nd finger, Esop... |
ORPHA:391641 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anorexia, Compulsive behaviors, Abnormal temper tantrums, Hyperglycem... |
ORPHA:3008 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Wide anterior fontanel, Micrognathia |
OMIM:618272 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Micrognathia, High palate, Bradycardia, Pulmonary insufficiency, Joint hypermobility |
OMIM:614437 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Micromelia, Micrognathia, Rocker bottom foot, Cryptorchidism, Intestinal... |
ORPHA:99776 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hallux valgus, Multiple joint contractures, Small for gestational age, Arac... |
ORPHA:464306 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Joint stiffness, Large fonta... |
ORPHA:2995 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Pes planus, Tapered finger, Cleft palate, Congenital hypothyroidism, Growth delay, High palate, D... |
OMIM:616973 |
| Lysinuric Protein Intolerance |
|
Short stature, Recurrent fractures, Osteoporosis, Truncal obesity, Failure to thrive, Pancreatiti... |
OMIM:222700 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Optic atrophy, Exaggerated startle response |
OMIM:617281 |
| 7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Short stature, Craniosynostosis, Congenital diaphragmatic hernia, Cryptorchidism... |
ORPHA:96121 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Iron deficiency anemia, Supraventricular tachycardia, Brain... |
ORPHA:97214 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Stippled calcifi... |
ORPHA:51608 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... |
OMIM:137920 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Xerostomia, Reduced left ventricular... |
ORPHA:85443 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
| Ogden Syndrome |
|
Microretrognathia, Postnatal growth retardation, Broad hallux, Delayed cranial suture closure |
ORPHA:276432 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Short stature, Shortened PR interval, Obesity, H... |
OMIM:614947 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hypoplastic vertebral bodies, Flattened femoral head, Flared iliac ... |
ORPHA:79255 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Joint hypermobility, Micrognathia |
OMIM:617101 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... |
OMIM:261540 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Short stature |
ORPHA:1861 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Short stature, Postnatal growth retardation, Hy... |
OMIM:614800 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis |
ORPHA:2470 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Anal stenosis, Anal atresia, Micrognathia, Ab... |
OMIM:263650 |
| Mirizzi Syndrome |
|
Tachycardia, Pancreatitis, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus mo... |
ORPHA:521219 |
| Hennekam-Beemer Syndrome |
|
Short stature, Mastocytosis, Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Clinoda... |
ORPHA:2135 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Flexion contracture |
OMIM:618201 |
| Lissencephaly, X-Linked, 2 |
|
Wide anterior fontanel, Micrognathia |
OMIM:300215 |
| Man1B1-Cdg |
|
Truncal obesity, Joint hypermobility |
ORPHA:397941 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Congestive heart failure, Hip dislocation, Right bundle branch block, H... |
OMIM:617403 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Failure to thrive, Hypovolemia, Hypotension |
ORPHA:427 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Wide anterior fontanel, Large fontanelles |
OMIM:614883 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Adrenocortical cytomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Large f... |
ORPHA:116 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Conge... |
ORPHA:2255 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Short stature, Micr... |
OMIM:180700 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Lacticaciduria, Tubulointerstitial nep... |
OMIM:124000 |
| Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Retinal telangiectasia, Obesity, Overgrowth, Tracheomalacia |
OMIM:620155 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... |
OMIM:612651 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
| Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Short stature, Wide anterior fontanel, Premature posterior ... |
ORPHA:488437 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity, Craniosynostosis |
ORPHA:251038 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... |
OMIM:600001 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Joint subluxation, P... |
ORPHA:90349 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Mesomel... |
ORPHA:1765 |
| Wagro Syndrome |
|
Hypertension, Decreased testicular size, Impaired social interactions, Obesity |
OMIM:612469 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Arachnodactyly, Intestinal malrotation, Hiatus her... |
OMIM:601776 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Hypothyroidism, Inappropriate laughter |
ORPHA:457212 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Growth delay, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... |
ORPHA:96149 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Tapered finger, Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, High pala... |
ORPHA:2953 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Wide anterior fontanel |
OMIM:619064 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Doors Syndrome |
|
11 pairs of ribs, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagitt... |
ORPHA:79500 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Short stature, Micrognathia, Cryptorchidism, Cleft palate, A... |
OMIM:616894 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... |
OMIM:204690 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria |
OMIM:300971 |
| Congenital Disorder Of Glycosylation, Type If |
|
Wide anterior fontanel, Flexion contracture |
OMIM:609180 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
| Becker Nevus Syndrome |
|
Abnormal tibia morphology, Spina bifida occulta, Micromelia, Lower limb asymmetry |
ORPHA:64755 |
| Peters Plus Syndrome |
|
Intestinal fistula, Toe syndactyly, Rhizomelia, Short stature, Micromelia, Micrognathia, Postnata... |
ORPHA:709 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Atrial septal defect, Patent forame... |
OMIM:620327 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Wide anterior fontanel, Congenital hip dislocation, Contracture of the proximal interphalangeal j... |
ORPHA:457279 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Short stature, Chronic pancreatitis, Congestive heart failure, Obesity, Pineal... |
ORPHA:98908 |
| Cardiac Diverticulum |
|
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... |
ORPHA:1686 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Prominent metopic ridge, Broad hallux, Short stature, Sagittal craniosynostosis, 2... |
OMIM:614188 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal glands, Thyr... |
ORPHA:79078 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Joint stiffness, Flexion contracture, Constipation, Gastroesophageal reflux,... |
ORPHA:847 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Flex... |
OMIM:180849 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Mitral valve prolapse |
ORPHA:730 |
| Boomerang Dysplasia |
|
Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Elevated hepatic transaminase, Rhizomelia, Short stature, Craniosynosto... |
OMIM:613610 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Growth ... |
ORPHA:980 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel |
OMIM:618240 |
| Rh Deficiency Syndrome |
|
Intrauterine growth retardation, Tachycardia, Miscarriage |
ORPHA:71275 |
| Cornelia De Lange Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, Gastroesophageal reflux, High palate, Clin... |
ORPHA:199 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short stature, Joint stiffness, Short toe, Limitation of joint... |
OMIM:139210 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Obesity |
OMIM:618443 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Short stature, Decreased response to growth hormone stimulation test, Cryptorchidis... |
OMIM:615873 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Absent frontal sinuses, Coxa valga, Reduced alpha/beta synthesis ratio, Hypochrom... |
OMIM:301040 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Proteinuria, Nausea, Cerebral hemorrhage, Increased body weight, H... |
ORPHA:244242 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Failure to thrive, Aggressive behavior, Tongue thrusting, Obesity... |
ORPHA:369950 |
| Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Abnormality of the hand, Micrognathia, Abnormal foot mor... |
ORPHA:171929 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Right-to-left shunt, Cleft palat... |
OMIM:265380 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Short stature, Mi... |
ORPHA:97360 |
| Generalized Pustular Psoriasis |
|
Fever, Elevated hepatic transaminase, Renal insufficiency, Overweight, Congestive heart failure, ... |
ORPHA:247353 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial... |
ORPHA:93271 |
| Bilateral Polymicrogyria |
|
Arthrogryposis multiplex congenita, Central hypothyroidism |
ORPHA:268940 |
| Kleefstra Syndrome 1 |
|
Cryptorchidism, Tracheobronchomalacia, Obesity |
OMIM:610253 |
| Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Absent thumb, Erythroid hypoplasia, ... |
ORPHA:124 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Gapo Syndrome |
|
Joint hypermobility, Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior font... |
OMIM:230740 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P... |
OMIM:192350 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Proximal placement of t... |
OMIM:229850 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Rheu... |
ORPHA:99867 |
| Legius Syndrome |
|
Short attention span, Hyperactivity, Dystonia, Acute monocytic leukemia, Mitral valve prolapse, M... |
ORPHA:137605 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel |
ORPHA:2143 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
| White-Sutton Syndrome |
|
Joint laxity, Ventral hernia, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Ob... |
ORPHA:468678 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension |
ORPHA:99828 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Short stature, Premature ventricular contraction |
ORPHA:1964 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Intrauterine grow... |
ORPHA:3412 |
| Mpdu1-Cdg |
|
Wide anterior fontanel, Decreased serum insulin-like growth factor 1 |
ORPHA:79323 |
| Transaldolase Deficiency |
|
Pancytopenia, Wide anterior fontanel, Splenomegaly, Hepatosplenomegaly, Anemia, Intrauterine grow... |
OMIM:606003 |
| Angelman Syndrome |
|
Paroxysmal bursts of laughter, Obesity |
OMIM:105830 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Acute leukemia, Abnormal pelvic ... |
ORPHA:289 |
| Kabuki Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchidism, Obesity, Join... |
ORPHA:2322 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Contracture of the distal interphalangeal joi... |
OMIM:617072 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Weight loss |
ORPHA:98850 |
| Chops Syndrome |
|
Short stature, Cryptorchidism, Obesity, Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Cryptorchidism, Aplasia/Hyp... |
OMIM:219000 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
| Hydrolethalus |
|
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
| Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... |
OMIM:267000 |
| Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
| Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... |
ORPHA:423 |
| Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Male hypogonadism, Obesity, Pancreatitis |
OMIM:619471 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Hyperekplexia 1 |
|
Umbilical hernia, Inguinal hernia, Exaggerated startle response |
OMIM:149400 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Multinodular goiter |
OMIM:618373 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Optic atrophy, Telangiectasia, Low-set ears, Hearing impairment |
ORPHA:93400 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity |
OMIM:619680 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Camptodactyly of finger, ... |
ORPHA:1507 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Micrognathia, Tremor, Large hands, Long foo... |
OMIM:615574 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity, Short stature |
OMIM:617547 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Short stature, Craniosynostosis, Micrognathia, Wide anterior fontanel, Deep palmar cr... |
OMIM:612289 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia/hypoplasia involving bones of the hand, Ab... |
ORPHA:96176 |
| Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Supernumerary nipple |
ORPHA:3224 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Obesity, Umbilical hernia, Cholelithiasis, Limited elbow extension |
OMIM:301066 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
| Sotos Syndrome |
|
Joint laxity, Hip contracture, Pes planus, Aganglionic megacolon, Craniosynostosis, Ankle flexion... |
ORPHA:821 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Legionnaires Disease |
|
Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Short stature, Obesity |
OMIM:620072 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Parietal Foramina 1 |
|
Wormian bones |
OMIM:168500 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, T lymphoc... |
OMIM:617237 |
| Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge... |
OMIM:200990 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Gastroesophageal reflux, Finge... |
ORPHA:818 |
| Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures, Intrauterine growth retardation, Wormian bones, Disproportionate sho... |
OMIM:618644 |
| Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Cardiomyopathy, Short stature, Obesity |
ORPHA:98907 |
| Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short sternum |
OMIM:222448 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Flexion contracture, Cleft palate, Talipes equinovarus, Limb undergrowth |
OMIM:619124 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbiliru... |
OMIM:619534 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Hypoglycemia, Hypospadias, Small for gestational age, Highly arched e... |
OMIM:220111 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Hypoplasia of the thymus, Pul... |
ORPHA:3384 |
| Turnpenny-Fry Syndrome |
|
Overlapping toe, Tapered finger, Long fingers, Wide anterior fontanel, Small hand, Prominent inte... |
OMIM:618371 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated median tongue furrow, Crypt... |
OMIM:312870 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Joint laxity, Osteomyelitis, Overweight, Congestive heart failure, Obesity,... |
OMIM:619475 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Gastroesophageal reflux |
OMIM:619769 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanelles, Broad thum... |
ORPHA:2211 |
| Ayme-Gripp Syndrome |
|
Short stature, Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closu... |
OMIM:601088 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clinodactyly of the 5th finger, Toe syndactyly, Short stature, Hypoplasia of the radius |
ORPHA:140952 |
| Toriello-Carey Syndrome |
|
Short stature, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Intrauterine g... |
ORPHA:3338 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Orthostatic hypotension, Obesity |
ORPHA:2822 |
| Zttk Syndrome |
|
Aortic regurgitation, Curly hair, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Chronic di... |
OMIM:617140 |
| Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
| Scalp-Ear-Nipple Syndrome |
|
Short stature, Congestive heart failure, Hypohidrosis, Hypertension, Multiple lipomas, Breast apl... |
OMIM:181270 |
| C Syndrome |
|
Toe syndactyly, Failure to thrive in infancy, Talipes, Micromelia, Micrognathia, Short stature, C... |
ORPHA:1308 |
| Adnp Syndrome |
|
Joint laxity, Inguinal hernia, Short stature, Cryptorchidism, Truncal obesity, Impaired social in... |
ORPHA:404448 |
| Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
| Goodpasture Syndrome |
|
Anemia, Increased blood urea nitrogen |
OMIM:233450 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Short stature, Cardiac conduction abnormality, Cryptorchidism, Obesity, Growth dela... |
ORPHA:353281 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Short stature, Micrognathia, Long fingers, Wide anterior fontanel,... |
ORPHA:401973 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Supernumerary nipple, Cryptorchidism, Obesity, Heart murmur |
OMIM:618653 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Median cleft lip and palate, Short stature, Camptodactyly of finger, Micromeli... |
ORPHA:3107 |
| Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, R... |
ORPHA:2968 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatitis, Enlarged la... |
ORPHA:449432 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circu... |
ORPHA:449395 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Scapular winging |
ORPHA:26791 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Cr... |
OMIM:256520 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypotension |
ORPHA:36238 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the ep... |
OMIM:617088 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Myocardial infarction, Hypovolemia, Weight loss, Hypotension, Failure to... |
ORPHA:95409 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Intrauterine grow... |
OMIM:619321 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short stature, Pseudohypoparathyroidism, Obesity, Intrauterine growth retardation, Failure to thrive |
OMIM:617157 |
| Witteveen-Kolk Syndrome |
|
Joint laxity, Inguinal hernia, Small for gestational age, Unilateral cryptorchidism, Decreased re... |
OMIM:613406 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Short stature, Cardiac conduction abnormality, Postnatal growth retardation, Crypto... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Short stature, Cardiac conduction abnormality, Postnatal growth retardation, Crypto... |
ORPHA:353277 |
| Wolf-Hirschhorn Syndrome |
|
Pseudoepiphyses of the metacarpals, Short hallux, Precocious puberty, Cryptorchidism, Short thumb... |
OMIM:194190 |
| Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Supernumerary nipple, Craniosynostosis, Bilateral cryptorchidism, Crypto... |
OMIM:614976 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Cryptorchidism, Obesity |
OMIM:616078 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
| 1P21.3 Microdeletion Syndrome |
|
Obesity, Joint hypermobility, Shyness |
ORPHA:293948 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Short stature, Limited elbow movement, Micrognathia, Wid... |
OMIM:218040 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge... |
OMIM:619522 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Truncal obesity, Flexion contracture, Short stature |
OMIM:301072 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, High palate, Micromelia, Reduced dihydropyrimidine dehydrogenase level |
ORPHA:1675 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Cholesterol gallstones, Obesity |
ORPHA:209902 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel |
OMIM:231680 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Truncal obesity, Obesity |
ORPHA:466950 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Short long bone, Bi... |
OMIM:306955 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Tracheom... |
OMIM:618280 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... |
OMIM:601992 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hypotension |
ORPHA:90791 |
| Plague |
|
Tachycardia, Hematemesis, Arthritis, Hypotension, Arrhythmia |
ORPHA:707 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongue, Preaxial polydactyly, ... |
OMIM:616546 |
| Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Papilledema, Abnormality of the endocrine system, Myocarditis, Conges... |
ORPHA:3385 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Hypovolemia, Weight loss, Hypotension, Pulmonary arterial hypertension, Failure to thrive |
ORPHA:275761 |
| Opitz Gbbb Syndrome |
|
Growth delay, Wide anterior fontanel |
OMIM:300000 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Deep plantar creases, Wide anterior fontanel, Micrognathia |
OMIM:618548 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Decreased testicular size, Short stature, Cryptorchidism, Obesity, Hypogonadism, Paroxysmal burst... |
OMIM:309580 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Enamel hypoplasia, Increased renal... |
OMIM:211900 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity |
ORPHA:466943 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Chordee, Histiocy... |
OMIM:309801 |
| Monosomy 22Q13.3 |
|
Umbilical hernia, Obesity, Hypohidrosis |
ORPHA:48652 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
| 6Q Terminal Deletion Syndrome |
|
Joint laxity, Failure to thrive, Obesity |
ORPHA:75857 |
| Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
| Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Hypotension |
ORPHA:293978 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... |
OMIM:601803 |
| Addison Disease |
|
Orthostatic hypotension, Failure to thrive, Hypotension, Weight loss |
ORPHA:85138 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Hypovolemia, Hypotension |
ORPHA:289548 |
| Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Aortic regurgitation, Truncal obesity, Camptodactyly, Failure to thrive, Joint hype... |
OMIM:612474 |
| Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
| Denys-Drash Syndrome |
|
Wide anterior fontanel |
OMIM:194080 |
| Medulloblastoma |
|
Delayed cranial suture closure |
ORPHA:616 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
| Acute Liver Failure |
|
Intracranial hemorrhage, Shock, Gastrointestinal hemorrhage, Hypotension |
ORPHA:90062 |
