Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath... |
OMIM:252011 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth ret... |
OMIM:615440 |
Eiken Syndrome |
|
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... |
ORPHA:79106 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... |
OMIM:600785 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Hypophosphatasia, Adult |
|
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Rickets, Pathologic fra... |
OMIM:146300 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemic rickets, Osteomalacia |
OMIM:193100 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short stature, Postnatal growth retardation |
OMIM:614326 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... |
ORPHA:83451 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Pericardial effusion, Oligohydramnios, Pleural effusion, Failure to th... |
OMIM:614702 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Hypertension, Oligo... |
OMIM:616733 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Small for gestational age, Bicuspid aortic valve, Hypertension, ... |
OMIM:613355 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Diaphragmatic eventration, Noncompaction cardiomyopathy, Atrial septal defe... |
OMIM:610198 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Diastasis recti, Ventricular septal defect, Small for gestational age, Large for ... |
ORPHA:254534 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Small for gestational age, Pericardial effusion, Nonimmune hydrops fe... |
ORPHA:1041 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Hypophospha... |
OMIM:300554 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity, Abnormal heart morphology, Postnatal growth retardation, Intrauterine growth retardation |
ORPHA:254525 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:600081 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecularization, Osteolysis, Abnormal bon... |
ORPHA:93160 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Postnatal growth retardation, Supraventricular ar... |
ORPHA:75249 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... |
ORPHA:555874 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets,... |
OMIM:241530 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia |
ORPHA:89937 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... |
ORPHA:2414 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Fanconi Renotubular Syndrome 2 |
|
Rickets, Recurrent fractures, Osteopenia, Osteomalacia |
OMIM:613388 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Reduced bone mineral density |
ORPHA:157215 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Rickets, Osteopenia |
OMIM:211600 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Dent Disease 1 |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... |
OMIM:300009 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:264700 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Osteoporosis |
OMIM:560000 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:277440 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Sparse bone trabeculae, Ri... |
ORPHA:289157 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biventricular h... |
OMIM:261740 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Hypophosphatemic rickets, Osteoarthritis, Osteomalacia |
OMIM:307800 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... |
ORPHA:289176 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteomalacia, Rickets, Osteopenia, Joint hyperflexibility, Joint stiffness, Osteoporosis |
ORPHA:1901 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemic rickets |
OMIM:612089 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effusion, Bicuspid aortic valve... |
OMIM:239850 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Persistent fetal circulation, Ventricular septal... |
ORPHA:363705 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Small for gestational age, Pericardial effusion,... |
ORPHA:26793 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Dent Disease |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... |
ORPHA:1652 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Fanconi-Bickel Syndrome |
|
Osteomalacia |
OMIM:227810 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Rickets, Osteolysis, Cortical irregularity, Abnormal bone structu... |
ORPHA:249 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... |
ORPHA:216694 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:411703 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteopenia |
ORPHA:2088 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Fail... |
OMIM:619487 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ve... |
ORPHA:75565 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Osteoporosis, Osteomalacia |
ORPHA:309031 |
X-Linked Hypophosphatemia |
|
Vertebral hyperostosis, Enthesitis, Arthritis, Generalized osteosclerosis, Limitation of joint mo... |
ORPHA:89936 |
Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Abnormal bleeding, Pleural ef... |
ORPHA:292 |
Mccune-Albright Syndrome |
|
Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Aneurysmal bone cyst, Polyostoti... |
ORPHA:562 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Bruising susceptibility, Dela... |
ORPHA:77259 |
Hypophosphatemic Rickets |
|
Osteomalacia, Enthesitis, Rickets, Craniofacial osteosclerosis, Hyperostosis, Joint stiffness, Fi... |
ORPHA:437 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Pericardial effusion, Pleural effusion, Edema, Growth delay, Ascites, Generalized edema |
ORPHA:90362 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Neu-Laxova Syndrome |
|
Flexion contracture, Osteomalacia, Arthrogryposis multiplex congenita, Rickets, Osteopenia, Osteo... |
ORPHA:2671 |
Rothmund-Thomson Syndrome |
|
Abnormal trabecular bone morphology, Increased susceptibility to fractures, Osteopenia, Reduced b... |
ORPHA:2909 |
Celiac Disease, Susceptibility To, 1 |
|
Rickets, Osteoporosis |
OMIM:212750 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... |
ORPHA:199241 |
Rothmund-Thomson Syndrome Type 2 |
|
Abnormal trabecular bone morphology, Finger symphalangism, Osteopenia, Synostosis involving bones... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Abnormal trabecular bone morphology, Finger symphalangism, Osteopenia |
ORPHA:221008 |
Distal Renal Tubular Acidosis |
|
Rickets, Increased susceptibility to fractures, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Visceral Steatosis, Congenital |
|
Abnormal bleeding, Neonatal death, Myocardial steatosis |
OMIM:228100 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morp... |
ORPHA:77261 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Occipital Horn Syndrome |
|
Osteomalacia, Synostosis of joints, Rickets, Osteolysis, Osteopenia, Joint hyperflexibility, Oste... |
ORPHA:198 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Joint laxity, Rickets, Osteopenia, Reduced bone mineral density |
OMIM:613658 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Primary Fanconi Renotubular Syndrome |
|
Increased susceptibility to fractures, Hypophosphatemic rickets, Osteomalacia |
ORPHA:3337 |
Wilson Disease |
|
Joint hypermobility, Osteoporosis, Osteoarthritis, Osteomalacia |
OMIM:277900 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... |
ORPHA:391665 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Joint contracture of the hand, Osteomalacia, Joint hypermobility, Ricket... |
OMIM:309000 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteomalacia, Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis |
ORPHA:2636 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Congestive heart failure, Dilated ca... |
ORPHA:73224 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Polyhydramnios, Retinal hemorrhage, Hyd... |
ORPHA:51608 |
Cystinosis, Nephropathic |
|
Rickets, Hypophosphatemic rickets |
OMIM:219800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Osteomalacia, Arthritis, Joint hyperflexibility, Joint stiffness |
ORPHA:534 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomyelitis, Osteomalacia |
OMIM:619381 |