| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... |
OMIM:611490 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, Recurrent fractu... |
OMIM:259710 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Bone marrow ... |
OMIM:166600 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Obesity |
|
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure |
OMIM:601665 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Myelofibrosis |
|
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... |
OMIM:254450 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... |
OMIM:259730 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Incr... |
OMIM:259700 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, N... |
OMIM:615285 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu... |
OMIM:231095 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Cirrhosis, Reduced bone mineral density, Jaundice, Hepatomegaly, Cholelithiasis, Anem... |
ORPHA:231222 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia |
OMIM:620448 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones |
ORPHA:564003 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto... |
OMIM:259720 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Leukocytosis, S... |
ORPHA:37748 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Abnormal trabecular bone morphology, Splenom... |
OMIM:612301 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Intermediate Osteopetrosis |
|
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... |
ORPHA:210110 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial complex I, Abnormal mitochondrial morphology, Decreased activ... |
OMIM:618378 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... |
ORPHA:166119 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Muscular Dystrophy, Becker Type |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Melorheostosis |
|
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J... |
ORPHA:2485 |
| Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... |
ORPHA:566943 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Ataxia, Aggressive behavior |
OMIM:620270 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Eiken Syndrome |
|
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Osteopetrosis, Spina bifida occulta, Increased bone mineral density, Coarse metaphyseal trabecula... |
ORPHA:2780 |
| Primary Myelofibrosis |
|
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... |
ORPHA:824 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Coronal craniosynostosis, Decreased calvarial ossification, Hepatosplenomegaly, Incom... |
ORPHA:313855 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Decreased mitochondrial number, Multiple joint contractures |
ORPHA:352470 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis |
OMIM:618476 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... |
ORPHA:846 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Prolonged neonatal jaundice, ... |
ORPHA:79303 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... |
ORPHA:45453 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... |
OMIM:610193 |
| Dominant Beta-Thalassemia |
|
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... |
ORPHA:231226 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Polycystic liver disease |
OMIM:109130 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... |
OMIM:600785 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Unsteady gait, Aggressive behavior |
OMIM:301107 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, Waddling gait, Elevated circulating creatine kinase concentration, First degre... |
OMIM:310300 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... |
OMIM:613688 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ... |
ORPHA:231214 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Lethargy, Aggressive behavior |
OMIM:605899 |
| Florid Cemento-Osseous Dysplasia |
|
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... |
ORPHA:83451 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly |
ORPHA:35107 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... |
OMIM:144750 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... |
ORPHA:45452 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Motor stereotypy, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
| Long Qt Syndrome 13 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... |
OMIM:613485 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hyperactivity, Tremor, Dystonia, Ataxia |
OMIM:615924 |
| Hereditary Spherocytosis |
|
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... |
ORPHA:822 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Reduced bone mineral density, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly,... |
ORPHA:667 |
| Wolff-Parkinson-White Syndrome |
|
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... |
OMIM:194200 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... |
OMIM:616943 |
| Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Long Qt Syndrome 14 |
|
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... |
OMIM:616247 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Attrv122I Amyloidosis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-... |
ORPHA:85451 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity |
OMIM:617113 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... |
OMIM:617021 |
| Majeed Syndrome |
|
Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovi... |
ORPHA:77297 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... |
OMIM:604400 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Dysmetria |
OMIM:618090 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi... |
ORPHA:101016 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes |
OMIM:220400 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Bone marrow hypocellularity, Elliptocytosis, E... |
ORPHA:2785 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... |
OMIM:613693 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Arthritis, Recurrent fractures, Osteoarthritis, Generalize... |
ORPHA:53 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... |
OMIM:611528 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... |
OMIM:613673 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive gait ataxia, Progressive cerebellar ataxia, Dysphagia, Abnormal EKG |
ORPHA:1177 |
| Congenital Syphilis |
|
Periostitis, Anemia, Pancreatitis, Lymphadenopathy, Synovitis, Prolonged neonatal jaundice, Throm... |
ORPHA:499009 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Congestive heart failure, Abnormal fear-induced behavior, Broad-based gait, Hyperactivi... |
ORPHA:3077 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... |
ORPHA:2658 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia |
OMIM:617182 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Athetosis, Dystonia, Ataxia, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... |
OMIM:192500 |
| Brugada Syndrome 9 |
|
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations |
OMIM:616399 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Par... |
OMIM:618718 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Brugada Syndrome 3 |
|
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... |
OMIM:611875 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:600081 |
| Juvenile Huntington Disease |
|
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Gait ataxia, Dyston... |
ORPHA:248111 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... |
OMIM:608751 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
| Brugada Syndrome 7 |
|
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
| Dysosteosclerosis |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio... |
ORPHA:1782 |
| Cardiomyopathy, Dilated, 1Nn |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... |
OMIM:615916 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... |
OMIM:300554 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Attention deficit hyperactivity... |
OMIM:619827 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... |
OMIM:608758 |
| Muscular Dystrophy, Duchenne Type |
|
Tip-toe gait, Congestive heart failure, Cardiomyopathy, Waddling gait, Elevated circulating creat... |
OMIM:310200 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Hepatomegaly, Delayed epiphyseal ossification, Leukocytosis, Splenomegaly, Sparse bone t... |
ORPHA:289157 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... |
OMIM:241530 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... |
OMIM:615441 |
| Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation, Increased serum pyruvate, Gait disturbance, Ataxia, Dysphagia, Limb dysmetr... |
ORPHA:94125 |
| Camurati-Engelmann Disease |
|
Anemia, Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bone di... |
OMIM:131300 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... |
OMIM:255160 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ... |
ORPHA:848 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... |
ORPHA:85188 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... |
OMIM:609040 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... |
OMIM:612347 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia, Aggressive behavior |
ORPHA:500180 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Wide anterior fontanel, Thin bony cortex, Osteopenia |
ORPHA:85184 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Wide anterior fontanel, Abnormal bone ossification, Delayed patel... |
ORPHA:163649 |
| Diastrophic Dysplasia |
|
Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Joint hypermobility |
ORPHA:628 |
| Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... |
ORPHA:75565 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop... |
OMIM:614856 |
| Glycogen Storage Disease Xv |
|
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... |
OMIM:613507 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:264700 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:277440 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... |
ORPHA:563 |
| Dent Disease 1 |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... |
OMIM:300009 |
| Rett Syndrome |
|
Prolonged QTc interval, Truncal ataxia, Stereotypical hand wringing, Gait ataxia, Gait apraxia, D... |
OMIM:312750 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment |
ORPHA:1055 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi... |
ORPHA:93284 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... |
OMIM:609620 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Abnormal circul... |
ORPHA:57777 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior |
OMIM:620023 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, Splenomegal... |
ORPHA:77261 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... |
ORPHA:1329 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis |
ORPHA:94089 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... |
OMIM:112250 |
| Barth Syndrome |
|
Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio, Abnormal mitochondrial morphology |
OMIM:302060 |
| Coronary Arterial Fistula |
|
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... |
ORPHA:2041 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperactivity, Dysdiadochokinesis, Hyperlysinemia, Hypoornithinemia |
OMIM:238700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Osteopenia, Increased susceptibility to fractures, Reduced bone mineral density,... |
ORPHA:2909 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Facial telangiectasia, M... |
OMIM:620141 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... |
OMIM:612422 |
| Hereditary Methemoglobinemia |
|
Athetosis, Limb dystonia, Methemoglobinemia |
ORPHA:621 |
| Brugada Syndrome 6 |
|
ST segment elevation, Cardiac arrest, Ventricular fibrillation |
OMIM:613119 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Tongue thrusting, Oculogyric crisis, Athetosis, Blepharospasm, Hypotension, Limb dys... |
OMIM:608643 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Limb ataxia, Broad-based gait, Truncal ataxia, Recurrent hand flapping, Persistence of hemoglobin... |
OMIM:617101 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Tip-toe gait, Inability to walk, Reduced left ventricular ejection fraction, Right bundle branch ... |
ORPHA:268 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Stiff-Person Syndrome |
|
Anemia, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia |
OMIM:184850 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperammonemia, Dyston... |
ORPHA:480864 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Anemia, Thickened cortex of long bones |
OMIM:127000 |
| Atrial Standstill 2 |
|
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation... |
OMIM:615745 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures |
OMIM:239000 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia |
OMIM:250800 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly ... |
ORPHA:85443 |
| Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia |
ORPHA:464453 |
| Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Poems Syndrome |
|
Hepatomegaly, Lymphadenopathy, Sclerosis of hand bone, Polycythemia, Sclerosis of foot bone, Sple... |
ORPHA:2905 |
| Sickle Cell Anemia |
|
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... |
ORPHA:232 |
| Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
| Loeffler Endocarditis |
|
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... |
ORPHA:75566 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Transient hyperphenylalaninemia, Hyperactivity, Tremor, Hyperphenylalaninemia,... |
OMIM:612716 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Abnormality of the spleen |
ORPHA:94063 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... |
ORPHA:263297 |
| Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... |
ORPHA:99106 |
| Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Coronal c... |
ORPHA:763 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Mitochondrial swelling, Decreased fumarat... |
OMIM:606812 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death |
OMIM:620231 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Osteopenia, Finger symphalangism, Anemia, Synostosis involving bones of the uppe... |
ORPHA:221016 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... |
ORPHA:90065 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Gaucher Disease |
|
Joint stiffness, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytopenia, Increas... |
ORPHA:355 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Osteopenia, Finger symphalangism, Anemia, Abnormal trabecular bone morphology, L... |
ORPHA:221008 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex I, Decreased activity of m... |
OMIM:500013 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response |
ORPHA:309246 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc... |
ORPHA:247585 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive |
OMIM:619518 |
| Wild Type Attr Amyloidosis |
|
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... |
ORPHA:330001 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Exaggerated startle response, Falls |
ORPHA:3198 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex I |
OMIM:615578 |
| Erdheim-Chester Disease |
|
Anemia, Increased bone mineral density, Osteolysis, Retroperitoneal fibrosis, Osteomyelitis |
ORPHA:35687 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Dent Disease |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... |
ORPHA:1652 |
| Dysosteosclerosis |
|
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... |
OMIM:224300 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Athetosis, Dystonia, Ataxia, Abnormal circulating creatine concentration, Self-mut... |
ORPHA:52503 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria |
OMIM:618056 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Agitation, Hyperactivity, Impulsivity, Exaggerated startle response, Hypernatremia, Dystonia, Thr... |
OMIM:620423 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... |
ORPHA:99103 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... |
ORPHA:37553 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Mitochondrial swelling, Decreased activity of mitochondrial complex I |
OMIM:618250 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level, Hypertension, Epistaxis, Intracranial hemorrhage,... |
ORPHA:231625 |
| Friedreich Ataxia |
|
Limb ataxia, Congestive heart failure, Hypertrophic cardiomyopathy, Gait ataxia, Ataxia, Abnormal... |
OMIM:229300 |
| Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... |
OMIM:601214 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hyperactivity, Decreased proportion of C... |
ORPHA:760 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
| Werner Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis |
ORPHA:902 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis |
ORPHA:2886 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number |
ORPHA:352447 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... |
OMIM:612561 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex I, Failure to thrive, F... |
ORPHA:17 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Difficulty walking, Increased circulating NT-proBNP concentration... |
OMIM:232300 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Orthostatic hypotension, Orthostatic syncope, Increased blood urea nitrogen, Syncope, Ele... |
ORPHA:230 |
| Trichothiodystrophy |
|
Osteopenia, Anemia, Increased mean corpuscular hemoglobin concentration, Increased bone mineral d... |
ORPHA:33364 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Bradykinesia, Hyperactivity, Dysdiadochokinesis, Impulsivity, Gait ataxia, Intention tremor, Dyst... |
OMIM:610217 |
| Scorpion Envenomation |
|
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... |
ORPHA:466677 |
| Hyperekplexia 3 |
|
Syncope, Exaggerated startle response |
OMIM:614618 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Abnormal T-wave, Oral-pharyngeal dysphagia, Tremor, Cardiomyopathy, Impulsivity, Cardia... |
ORPHA:2131 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... |
ORPHA:89936 |
| Tay-Sachs Disease |
|
Inability to walk, Increased serum beta-hexosaminidase, Tremor, Gait disturbance, Exaggerated sta... |
ORPHA:845 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Obsessive-compulsive trait, Bradykinesia, Akinesia, Hyperactivity, Tremor, Blepharospasm, Gait di... |
OMIM:234200 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones |
OMIM:620558 |
| Lead Poisoning |
|
Anorexia, Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased ... |
ORPHA:330015 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Congenital Aortic Valve Stenosis |
|
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... |
ORPHA:3093 |
| Choreoacanthocytosis |
|
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... |
ORPHA:2388 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnormal pulse pressure, Hy... |
ORPHA:466650 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv... |
ORPHA:70591 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f... |
ORPHA:90652 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Hepatosplenomegaly, Abnormal EKG, Dysmetria, Telangiectasia |
ORPHA:93400 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy |
OMIM:602541 |
| Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... |
OMIM:261740 |
| Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
| Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
| Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
| Argininemia |
|
Spastic gait, Anorexia, Reduced erythrocyte arginase activity, Hyperactivity, Hyperargininemia, H... |
OMIM:207800 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Exaggerated startle response |
OMIM:616881 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula... |
ORPHA:860 |
| Cocaine Intoxication |
|
Ischemic stroke, Agitation, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Tre... |
ORPHA:90068 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Hyperactivity, Increased mean corp... |
OMIM:617052 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Hyperalaninemia, Exaggerated startle response, Gait ataxia, Ataxia, Hyperprol... |
OMIM:620451 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Increased bone mineral density, Shoulder flexion contracture, Abnorma... |
ORPHA:800 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Sandhoff Disease |
|
Ataxia, Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Gitelman Syndrome |
|
Polydipsia, Hypermagnesemia, Prolonged QT interval, Iron deficiency anemia, Hypokalemia, Prominen... |
ORPHA:358 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification |
ORPHA:79444 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, Hyperostosis ... |
ORPHA:79443 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormal EKG |
OMIM:613102 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Pulmonic stenosis, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Ex... |
OMIM:253800 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Dextrocardia |
|
Abnormality of the spleen, T-wave inversion, Abnormal EKG |
ORPHA:1666 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Cardiac Diverticulum |
|
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... |
ORPHA:1686 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Atypical Werner Syndrome |
|
Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Increased bone min... |
ORPHA:79474 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Exaggerated startle response |
OMIM:617301 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| African Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Akinesia, Aggressive behavior, Difficulty walking, Tremor,... |
ORPHA:3385 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Motor stereotypy, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... |
OMIM:105650 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Absence Of The Pulmonary Artery |
|
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... |
ORPHA:980 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:79255 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Splenopancreatic fusion, Hepatoblastoma, Thickened cortex of long bones, Sclerosis of skull base,... |
OMIM:269150 |
| Asparagine Synthetase Deficiency |
|
Tremor, Hypoasparaginemia, Exaggerated startle response |
OMIM:615574 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Dysphagia, Exaggerated startle response |
OMIM:617527 |
| Interatrial Communication |
|
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... |
ORPHA:1478 |
| Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Dystonia, Abnormal T-wave |
OMIM:241080 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Inability to walk, Broad-based gait, Stereotypical hand wringing, Exaggerated startle res... |
ORPHA:438213 |
| Williams Syndrome |
|
Osteopenia, Cholelithiasis, Spina bifida occulta, Increased bone mineral density, Synostosis of j... |
ORPHA:904 |
| Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Abnormality of the spleen, Arrhyth... |
ORPHA:648 |
| Alkaptonuria |
|
Hypertension, Aortic valve stenosis, Mitral stenosis, Hemolytic anemia, Mitral regurgitation, Myo... |
ORPHA:56 |
| Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Dystonia, Abnormal T-wave |
ORPHA:3464 |
| Friedreich Ataxia 2 |
|
Congestive heart failure, Ataxia, Abnormal EKG, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Dysphagia, Exaggerated startle response |
OMIM:618367 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Exaggerated startle response, Dysphagia, Motor stereotypy |
OMIM:619522 |
