| Torus Palatinus And Torus Mandibularis |
|
Torus palatinus, Abnormality of the mouth |
OMIM:189700 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Acroosteolysis |
|
Osteolytic defects of the phalanges of the toes, Osteolytic defects of the phalanges of the hand |
OMIM:102400 |
| Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
| Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:125852 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
| Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
| Hyaline Fibromatosis Syndrome |
|
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia |
OMIM:228600 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
| Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
| Familial Expansile Osteolysis |
|
Thin bony cortex, Osteolysis, Pathologic fracture |
OMIM:174810 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis |
ORPHA:970 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
| Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Cleft palate, Stomach cancer |
OMIM:137215 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
| Palant Cleft Palate Syndrome |
|
Exaggerated cupid's bow, Cleft palate |
OMIM:260150 |
| Winchester Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... |
OMIM:277950 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Juvenile Hyaline Fibromatosis |
|
Joint stiffness, Progressive flexion contractures, Osteolysis |
ORPHA:2028 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Rosaï-Dorfman Disease |
|
Osteolysis |
ORPHA:158014 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia |
ORPHA:53697 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Cleft palate, Bifid uvula |
OMIM:258320 |
| Dermatoosteolysis, Kirghizian Type |
|
Joint contracture of the hand, Flexion contracture, Osteolysis |
OMIM:221810 |
| Pierre Robin Syndrome |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
| Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate |
OMIM:248110 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis |
ORPHA:100024 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Cleft Palate, Isolated |
|
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
| Van Der Woude Syndrome 1 |
|
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula |
OMIM:119300 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis |
ORPHA:718 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia |
OMIM:240800 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
| 2q33.1 deletion syndrome |
|
Cleft palate, High palate |
DECIPHER:51 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
| Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
| Gorham-Stout Disease |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... |
ORPHA:73 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Fragmented epiphyses, Abnormal sternum morphology, Epiphyseal dysplasia, Delayed... |
ORPHA:166016 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Nemaline Myopathy 9 |
|
Cleft palate, High palate |
OMIM:615731 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
| Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| Osteosarcoma |
|
Osteolysis, Pathologic fracture |
ORPHA:668 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
| Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
| Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
| Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
OMIM:609655 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Cleft palate, Bifid uvula |
OMIM:303400 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
ORPHA:2669 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:311895 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
| Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Sandal gap, Oligodontia of primary teeth, Short hallux, No permanent dentition |
OMIM:216300 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
| Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
| Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of hallux, Bifid distal phalanx of the thumb, Partial duplication of the dis... |
OMIM:256200 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
| Arthrogryposis, Distal, Type 1C |
|
Cleft palate, High palate, Shoulder flexion contracture, Rocker bottom foot, Adducted thumb, Hip ... |
OMIM:619110 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Metacarpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, Carpal osteolysis, ... |
ORPHA:2774 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
| Ollier Disease |
|
Joint stiffness, Osteolysis |
ORPHA:296 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... |
OMIM:262400 |
| Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Tenosynovial Giant Cell Tumor |
|
Joint stiffness, Localized osteoporosis, Limitation of joint mobility, Osteolysis |
ORPHA:66627 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Cleft palate, Glossoptosis |
ORPHA:3104 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft palate, Non-midline cleft lip, Submucous cleft of soft and hard palate |
ORPHA:1991 |
| Bifid Uvula |
|
Cleft lip, Bifid uvula, Submucous cleft soft palate |
ORPHA:99771 |
| Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture |
ORPHA:166277 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
| Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:601420 |
| Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Caffey Disease |
|
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones |
OMIM:114000 |
| Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecularization, Recurrent... |
ORPHA:93160 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis |
ORPHA:1525 |
| Craniorachischisis |
|
Bifid sternum, Anal atresia |
ORPHA:63260 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
| Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:236110 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
| Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Cleft palate, Short philtrum, Thick upper lip vermilion, Thin upper lip vermilion, Abnormality of... |
OMIM:226440 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Osteoarthritis, Osteolysis |
ORPHA:1657 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314811 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
| Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the middle phalanges of the hand, Metacarpal osteolysis, Osteolytic defects... |
OMIM:259610 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Increased susceptibility to fractures, Osteolysis |
OMIM:602080 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate |
OMIM:223200 |
| Classic Hodgkin Lymphoma |
|
Osteolysis |
ORPHA:391 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Infantile Myofibromatosis |
|
Bone cyst, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
| Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
| Brugada Syndrome 4 |
|
Syncope, Shortened QT interval, Atrial fibrillation |
OMIM:611876 |
| Caffey Disease |
|
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... |
ORPHA:1310 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula, Narrow chest |
OMIM:300850 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia |
ORPHA:329249 |
| Eiken Syndrome |
|
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... |
ORPHA:79106 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Hyperostosis, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Osteolysis |
ORPHA:324964 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Cleft palate, Pierre-Robin sequence, Joint hypermobility, Hypoplastic distal se... |
OMIM:602196 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Frank-Ter Haar Syndrome |
|
Joint stiffness, Camptodactyly of finger, Osteolysis |
ORPHA:137834 |
| Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate, Drooling |
ORPHA:209908 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Thin upper lip vermilion |
ORPHA:2015 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Metaphyseal dysplasia, Short iliac bones, Irregular acetabular roof, C... |
ORPHA:93316 |
| Schneckenbecken Dysplasia |
|
Cleft palate, Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irre... |
OMIM:269250 |
| Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Cleft palate, Abnormal metacarpal morphology, Pectus carinatum, Long philtrum, ... |
ORPHA:166100 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Increased susceptibility to fractures, Osteolysis, Pathologic fracture |
ORPHA:52430 |
| Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth |
OMIM:183300 |
| Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodactyly of finger,... |
ORPHA:2635 |
| Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
| Coffin-Lowry Syndrome |
|
Widely spaced teeth, Hypodontia, High palate, Rectal prolapse, Pectus excavatum, Pectus carinatum... |
OMIM:303600 |
| Zimmermann-Laband Syndrome 3 |
|
Thick lower lip vermilion, High palate, Triphalangeal thumb, Gingival overgrowth, Bifid uvula, Lo... |
OMIM:618658 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue, Sh... |
OMIM:258850 |
| Arthrogryposis, Distal, Type 3 |
|
Cutaneous finger syndactyly, Pectus excavatum, High palate, Cleft palate, Distal arthrogryposis, ... |
OMIM:114300 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis involving bones of the lower limbs, Increased susceptibility to fractures, Osteolysis ... |
ORPHA:371428 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... |
OMIM:600785 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... |
ORPHA:276608 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Smooth philtrum, High palate, Cleft palate, Celiac disease, Long philtrum, Broad thumb, Drooling,... |
ORPHA:576283 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Atrioventricular block, Atrial arrhythmia |
OMIM:310300 |
| Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Cleft palate |
ORPHA:261204 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Cleft palate, Lip pit |
ORPHA:1072 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
| Chromosome 15Q14 Deletion Syndrome |
|
Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, Everted lower lip vermilion |
OMIM:616898 |
| Megaepiphyseal Dwarfism |
|
Cleft palate |
OMIM:249230 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate |
OMIM:600251 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Parietal Foramina 1 |
|
Cleft upper lip, Cleft palate |
OMIM:168500 |
| Mental Retardation, Autosomal Recessive 14 |
|
Narrow palate |
OMIM:614020 |
| Diaphanospondylodysostosis |
|
Cleft palate, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and ... |
ORPHA:66637 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Postaxial foot polydactyly, Postaxial hand poly... |
OMIM:174300 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... |
ORPHA:324575 |
| Isolated Osteopoikilosis |
|
Cleft palate, Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of fo... |
ORPHA:166119 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Osteolysis |
OMIM:612852 |
| Adducted Thumbs Syndrome |
|
Cleft palate, High, narrow palate, Velopharyngeal insufficiency, High palate |
OMIM:201550 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Short foot, Short distal phalanx o... |
ORPHA:3201 |
| Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Pierre-Robin sequence, Long fingers, Bifid uvula, Arachnodacty... |
OMIM:604841 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate |
OMIM:183700 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Hypodontia, Cleft palate, Bifid uvula, Joint contracture of the hand, Split hand, ... |
OMIM:603543 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cleft upper lip, Cleft palate |
OMIM:120433 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Memory impairment, Hyperinsulinemia, Cognitive impairment |
ORPHA:369873 |
| Mesomelic Limb Shortening And Bowing |
|
Cleft palate |
OMIM:249710 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
| Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Ck Syndrome |
|
Joint hypermobility, Abnormal cortical bone morphology |
OMIM:300831 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
| Grant Syndrome |
|
Decreased skull ossification, Abnormal cortical bone morphology, Joint hyperflexibility |
ORPHA:2097 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Cleft palate, Broad long bones, Hypoplastic iliac wing, Short ribs, Stillbirth, ... |
OMIM:200610 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Cleft palate, Bifid uvula |
OMIM:618768 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, High, narrow palate, Pectus excavatum, Cleft palate, Triphalangeal thumb, Syno... |
ORPHA:957 |
| Proteus Syndrome |
|
Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Facial hyperostosis |
OMIM:176920 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Neonatal death, Lytic defects of humeral diaphy... |
OMIM:601376 |
| Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Congestive heart failure, Sudden ... |
ORPHA:98909 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Hypodontia, High palate, Flat capital femoral epiphysis, Tapered finger, Bifid uvula, Delayed eru... |
OMIM:612350 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:1486 |
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
Cleft palate |
OMIM:241850 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187601 |
| Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
| Lowry-Maclean Syndrome |
|
Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy |
ORPHA:85447 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism, Hypoglycemia |
OMIM:616113 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
| Thomas Syndrome |
|
Cleft upper lip, Cleft palate |
ORPHA:3316 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Widely spaced teeth, High palate, Wide mouth, Microdontia, Cone-shaped epiphysis, Macroglossia, A... |
OMIM:266920 |
| Temple Syndrome |
|
High palate, Cleft palate, Short philtrum, Small hand, Bifid uvula, Joint hypermobility, Short fo... |
OMIM:616222 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Long philtrum, Cleft soft palate, Broad thumb, Gingival overgrowth, Partial dupl... |
OMIM:616331 |
| Felty Syndrome |
|
Arthritis, Synovitis, Limitation of joint mobility, Osteolysis |
ORPHA:47612 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Osteolysis |
ORPHA:100026 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Joint hypermobility, Unilateral cleft lip, Unilateral cleft palate, Supernumera... |
OMIM:619122 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
| Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate |
OMIM:614402 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
| Sapho Syndrome |
|
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... |
ORPHA:793 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... |
OMIM:115197 |
| Rosselli-Gulienetti Syndrome |
|
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Abnormality of the philtrum, Anodontia |
OMIM:225000 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula |
ORPHA:2736 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... |
ORPHA:276580 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90153 |
| Aggressive Systemic Mastocytosis |
|
Osteoporosis, Osteolysis, Pathologic fracture |
ORPHA:98850 |
| Craniosynostosis 2 |
|
Triphalangeal thumb, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Bicoronal synostos... |
OMIM:604757 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, Hypodontia, Dens in dente, 2-3 toe syndactyly, Short middle ph... |
OMIM:263540 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Gaucher Disease Type 1 |
|
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis |
ORPHA:77259 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Osteopetrosis |
OMIM:611490 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy reduct... |
ORPHA:249 |
| Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Cleft soft palate, Small hand, Esophageal atresia, Bifid uvula, Downturn... |
OMIM:618779 |
| Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Anxiety, Hyperinsulinemic hypoglycemia, F... |
ORPHA:97279 |
| Pachydermoperiostosis |
|
Osteoporosis, Abnormal cortical bone morphology, Arthritis, Osteomyelitis, Limitation of joint mo... |
ORPHA:2796 |
| Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation |
OMIM:618052 |
| Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Cleft palate, Genu varum, Epiphyseal dysplasia, Toe clinodactyly, Sho... |
OMIM:615777 |
| Auriculocondylar Syndrome 2 |
|
Mandibular condyle aplasia, Cleft palate, Glossoptosis, Short mandibular rami, Narrow mouth, Dent... |
OMIM:614669 |
| Abruzzo-Erickson Syndrome |
|
Cleft palate |
OMIM:302905 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90154 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate |
ORPHA:217 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Premature sternal synostosis |
OMIM:184800 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Cleft palate, Bifid uvula |
ORPHA:506353 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
| Dysosteosclerosis |
|
Oligodontia, Short ribs, Delayed eruption of teeth, Progressive bowing of long bones, Abnormal me... |
OMIM:224300 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia |
OMIM:306000 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Cleft palate, Pierre-Robin sequence |
OMIM:184840 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... |
OMIM:259710 |
| Glucocorticoid Resistance, Generalized |
|
Anxiety, Hypoglycemia |
OMIM:615962 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate |
OMIM:612913 |
| Gitelman Syndrome |
|
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... |
ORPHA:358 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, 2-3 toe syndactyly, Cleft palate, Oligodontia, Long philtrum, Hammert... |
ORPHA:2712 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... |
ORPHA:276575 |
| Split hand/foot malformation 1 (SHFM1) |
|
Cleft palate, Median cleft lip |
DECIPHER:46 |
| Nestor-Guillermo Progeria Syndrome |
|
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acro... |
OMIM:614008 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Cleft palate, Asymmetry of the thorax, Osteopetrosis, Bifid uvula, Delayed e... |
ORPHA:2780 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Cleft palate, Smooth philtrum, Thin upper lip vermilion |
OMIM:611867 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block |
ORPHA:480 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... |
OMIM:603471 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:600081 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Osteoporosis, Decreased skull ossification, Limitation of jo... |
ORPHA:99742 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Brach... |
OMIM:186500 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Pectus excavatum, Hamartoma of tongue, Bifid uvula, Short sternum, Thoracic ... |
ORPHA:2752 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Oral cleft, Widely-spaced maxillary central incisors |
OMIM:601349 |
| Cree Mental Retardation Syndrome |
|
Cutaneous finger syndactyly, Pectus excavatum, Rocker bottom foot, Cleft soft palate, Aplasia/Hyp... |
OMIM:606851 |
| Endocardial Fibroelastosis |
|
Cognitive impairment, Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
| Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Tibial bowing, Fibular bowing, Abnormally ossified vertebrae, Osteoarthritis, Epiph... |
ORPHA:1427 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block |
OMIM:616812 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Cleft palate, Ectopic anus |
ORPHA:2476 |
| Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Thick lower lip vermilion, High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, ... |
OMIM:617412 |
| Stickler Syndrome Type 2 |
|
Cleft palate |
ORPHA:90654 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Diabetes mellitus, Insulin resistance |
ORPHA:79084 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Joint laxity |
OMIM:617952 |
| Bamforth-Lazarus Syndrome |
|
Cleft palate |
ORPHA:1226 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Cleft palate, Narrow mouth |
ORPHA:93946 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
| Papillon-Lefèvre Syndrome |
|
Osteolysis |
ORPHA:678 |
| Mixed Connective Tissue Disease |
|
Joint stiffness, Arthritis, Osteolysis |
ORPHA:809 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Porphyria, Congenital Erythropoietic |
|
Osteolysis, Joint contracture of the hand, Osteopenia, Pathologic fracture |
OMIM:263700 |
| Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Oral cleft |
OMIM:141400 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... |
OMIM:300554 |
| Thanatophoric Dysplasia, Type I |
|
Short greater sciatic notch, Small abnormally formed scapulae, Wide-cupped costochondral junction... |
OMIM:187600 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Long philtrum, Cleft soft palate, Metatarsal synostosis, Poly... |
ORPHA:2756 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Bifid uvula, Sagittal craniosynostosis, Slender finger, Broad philtrum, Cont... |
ORPHA:2872 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, High palate, Cleft palate, Short philtrum, Small hand, Bifid uvula, Joint hyper... |
ORPHA:96184 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Smooth philtrum, Cleft palate, Pectus carinatum, Long philtrum, Velopharyngea... |
OMIM:614701 |
| Treacher Collins Syndrome 3 |
|
Cleft palate |
OMIM:248390 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
| Pallister W Syndrome |
|
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Joint contracture of the hand, R... |
OMIM:311450 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty |
OMIM:616033 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... |
ORPHA:181393 |
| Stickler Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Pierre-Robin sequence, Bifid uvula, Arachnodactyly, Abnormality o... |
OMIM:108300 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
| Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sho... |
OMIM:227270 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71526 |
| Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... |
OMIM:262600 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
| W Syndrome |
|
Metatarsus adductus, Radial bowing, Upper lip pit, Broad uvula, Camptodactyly, Agenesis of maxill... |
ORPHA:2804 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
| Treacher Collins Syndrome 2 |
|
Cleft palate |
OMIM:613717 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Cleft palate, Narrow mouth |
OMIM:246560 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splenomegaly, Abnormal liver... |
ORPHA:64743 |
| Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Smooth philtrum, Death in infancy, Short philtrum, Rocker bottom foot, Adducted thumb, Thin vermi... |
OMIM:618622 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cleft palate |
OMIM:614880 |
| Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Adducted thumb, Long fingers, Bifid uvula, Clinodactyly of the 5th ... |
OMIM:601110 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Pierre-Robin sequence, Pectus carinatum, Bifid uvula, Delayed calcaneal ossificatio... |
OMIM:183900 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
| Familial Dysautonomia |
|
Recurrent fractures, Osteolysis |
ORPHA:1764 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
| Schilbach-Rott Syndrome |
|
Bifid uvula, 2-3 toe cutaneous syndactyly, Narrow mouth, 3-4 finger cutaneous syndactyly, Clinoda... |
OMIM:164220 |
| Heart Block, Congenital |
|
Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Atria... |
OMIM:234700 |
| Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Cleft palate, Short philtrum, Cleft upper lip, Thin vermilion border, Bifid u... |
OMIM:608572 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... |
ORPHA:276556 |
| Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology |
ORPHA:3344 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Hip... |
ORPHA:464321 |
| Kleefstra Syndrome 2 |
|
Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
| Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Cleft palate |
OMIM:216800 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, In... |
OMIM:259700 |
| Chromosome 17Q12 Duplication Syndrome |
|
Smooth philtrum, Cleft soft palate, Esophageal atresia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Moebius Syndrome |
|
High palate, Lower limb undergrowth, Abnormality of pelvic girdle bone morphology, Bifid uvula, A... |
OMIM:157900 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:241530 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:614838 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Cleft palate, High palate, Tooth agenesis |
ORPHA:1135 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Irritability, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
| Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, High palate, Long philtrum, Cleft soft palate, Elbow flexion contracture, Co... |
OMIM:117650 |
| Tenorio Syndrome |
|
Anxiety, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Cleft palate, Oligodontia of primary teeth |
ORPHA:2010 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
| Gaucher Disease Type 3 |
|
Increased susceptibility to fractures, Increased bone mineral density, Osteolysis |
ORPHA:77261 |
| Genitopalatocardiac Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:231060 |
| Kaposiform Lymphangiomatosis |
|
Fractures of the long bones, Osteolysis |
ORPHA:464329 |
| Myhre Syndrome |
|
Abnormal lip morphology, Cleft palate, Abnormality of epiphysis morphology, Gingival cleft, Thin ... |
ORPHA:2588 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
| Early-Onset Schizophrenia |
|
Unhappy demeanor, Suicidal ideation, Cognitive impairment, Irritability, Anhedonia, Emotional lab... |
ORPHA:96369 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Abnormality of the philtrum, Anodontia |
OMIM:225060 |
| Aase-Smith Syndrome I |
|
Death in infancy, Cleft palate, Open mouth |
OMIM:147800 |
| Hsd10 Mitochondrial Disease |
|
Aggressive behavior, Hypoglycemia, Progressive neurologic deterioration |
OMIM:300438 |
| Holoprosencephaly 11 |
|
Cleft lip, Cleft palate |
OMIM:614226 |
| 8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Craniosynostosis, Finger syndactyly, Sandal gap, Camptodactyly of finger, Limitati... |
ORPHA:178303 |
| Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
| H Syndrome |
|
Recurrent fractures, Camptodactyly, Osteolysis |
ORPHA:168569 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, High palate, Cleft palate, Pierre-Robin sequence, Fibular hypoplasia, B... |
OMIM:268305 |
| Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Atrial fibrillation, Cardiac conduction abnormality, Supraventricular tac... |
ORPHA:273 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
| Pai Syndrome |
|
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology |
ORPHA:1993 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Broad hallux, Broad thumb, Clinodactyly o... |
OMIM:619314 |
| Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Atrioventricular block, Abnormal atrioventricular conduction |
OMIM:118230 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal dental enamel morpholog... |
ORPHA:2658 |
| Zimmermann-Laband Syndrome |
|
Hallux valgus, Hypodontia, High palate, Cleft palate, Wide mouth, Overtubulated long bones, Macro... |
ORPHA:3473 |
| Atrioventricular Septal Defect 3 |
|
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... |
OMIM:600309 |
| Birk-Barel Syndrome |
|
High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate |
OMIM:612292 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
| Erdheim-Chester Disease |
|
Osteolysis, Increased bone mineral density, Osteomyelitis |
ORPHA:35687 |
| Dystonia, Juvenile-Onset |
|
Cleft upper lip, Cleft palate |
OMIM:607371 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... |
ORPHA:1677 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Cognitive impairment, Hypoglycemia |
ORPHA:364 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia |
OMIM:310200 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
| Diamond-Blackfan Anemia 6 |
|
Cleft palate, Triphalangeal thumb, Cleft upper lip, Bifid uvula, Short thumb, Tracheomalacia |
OMIM:612561 |
| Hydrolethalus |
|
Cleft palate, Gingival cleft, Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate |
ORPHA:2189 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia |
ORPHA:2126 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... |
ORPHA:280356 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis |
OMIM:618476 |
| Melnick-Needles Syndrome |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic defects of the phalanges... |
ORPHA:2484 |
| Chikungunya |
|
Synovitis, Periostitis, Arthritis, Osteolysis, Joint stiffness, Stiff interphalangeal joints, Ent... |
ORPHA:324625 |
| Orofaciodigital Syndrome Type 2 |
|
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... |
ORPHA:2751 |
| Encephalocraniocutaneous Lipomatosis |
|
Bone cyst, Craniofacial hyperostosis, Osteolysis |
ORPHA:2396 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:264700 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... |
ORPHA:398124 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Solitary median maxillary central incisor, Cleft palate |
OMIM:602418 |
| Momo Syndrome |
|
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Abnormal bone ossificatio... |
ORPHA:2563 |
| Alpha-Mannosidosis, Infantile Form |
|
Cortical thickening of long bone diaphyses, Joint laxity, Craniosynostosis, Osteopenia, Joint sti... |
ORPHA:309282 |
| Autosomal Recessive Centronuclear Myopathy |
|
High palate, Hip contracture, Long fingers, Bifid uvula, Narrow mouth, Scapular winging |
ORPHA:169186 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... |
OMIM:277440 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bone cyst, Hip contracture, Flexion contracture, Osteolysis |
ORPHA:3042 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thick lower lip vermilion, High, narrow palate, Pectus excavatum, Smooth philtrum, Cleft palate, ... |
OMIM:309583 |
| Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Orthostatic hypotension, Atrioventricular block, Abnormal atrioventricular conduction |
OMIM:118301 |
| Dent Disease 1 |
|
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurrent fractures, Sp... |
OMIM:300009 |
| Gaucher Disease |
|
Arthrogryposis multiplex congenita, Abnormal bone structure, Osteopenia, Osteomyelitis, Increased... |
ORPHA:355 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Cleft palate, Short clavicles, Pectus carinatum, Bowing of the long bones, Craniosynostosis, Join... |
OMIM:130070 |
| Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
| Greenberg Dysplasia |
|
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Short ribs, Abnormal bone st... |
OMIM:215140 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
| Temple Syndrome |
|
Clinodactyly of the 5th finger, Small hand, Bifid uvula, Short foot |
ORPHA:254516 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Cryptococcosis |
|
Osteolysis, Osteomyelitis |
ORPHA:1546 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... |
ORPHA:263455 |
| Tarp Syndrome |
|
Pectus excavatum, High palate, Cleft palate, Postaxial polydactyly, Tongue nodules, Glossoptosis,... |
OMIM:311900 |
| Tetrasomy 12P |
|
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Anal atresia, Abnormal soft ... |
ORPHA:884 |
