| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Cardiomyopathy, Dilated, 1I |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
| Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
| Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
| Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
| Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
| Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
| Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... |
OMIM:144300 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:600649 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
| Schnitzler Syndrome |
|
Splenomegaly, Hepatomegaly, Increased bone mineral density, Arthritis |
ORPHA:37748 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
| Abcd Syndrome |
|
Neonatal death, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impa... |
OMIM:600501 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Hypocalcemia, Increased bone mineral density, Hepatomegaly, Craniosynostosis, Oste... |
OMIM:259700 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, C... |
OMIM:617713 |
| Dysosteosclerosis |
|
Recurrent fractures, Increased bone mineral density, Ventricular septal defect, Coarse metaphysea... |
ORPHA:1782 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
| Osteogenesis Imperfecta, Type Xiii |
|
Osteoporosis, Increased bone mineral density, Joint hypermobility |
OMIM:614856 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Osteopenia, Conjugated hyperbilirubinemia, Cardiomegaly |
OMIM:269920 |
| Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Low-set, posteriorly rotated ears, Increased circulating farnesol concent... |
OMIM:618156 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:615085 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
| Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hyperammonemia, Endocardial fibroelastosis, Decreased plasma carnitine, Hypertrophi... |
OMIM:212140 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hearing impairment, EEG abnormality |
OMIM:610883 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyper... |
OMIM:255120 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Hepatomegaly, Splenomegaly, Dense calvaria, Asymmetric septal hypertrophy, Cardi... |
OMIM:252920 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Osteopenia, Hydroxyprolinemia, Osteoporosis,... |
OMIM:239000 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Increased blood urea nitrogen, Craniosynostosis, Enlarged kidney, Hypercalcemia |
ORPHA:251004 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Pathologi... |
ORPHA:77259 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... |
ORPHA:94089 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Albers-Schönberg Osteopetrosis |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... |
ORPHA:53 |
| Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... |
OMIM:300257 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... |
ORPHA:90650 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly |
OMIM:611490 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Osteoporosis, Increased... |
OMIM:235200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hyperprolinemia, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Joint hypermobility |
OMIM:223360 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... |
OMIM:259710 |
| Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Diastrophic Dysplasia |
|
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density |
ORPHA:628 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... |
ORPHA:93284 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... |
ORPHA:36913 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
| Majeed Syndrome |
|
Osteomyelitis, Hepatomegaly, Increased bone mineral density, Flexion contracture, Splenomegaly, I... |
ORPHA:77297 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... |
ORPHA:85188 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Hepatomegaly, Increased bone mineral density, Splenomegaly, Mitral va... |
ORPHA:77261 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Distal symphalangism |
OMIM:154230 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasm... |
ORPHA:42 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification |
ORPHA:163649 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Thickened cortex of long bones, Cardiomegaly, Pericardial cons... |
OMIM:253250 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecul... |
ORPHA:2780 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly |
OMIM:612840 |
| Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Neonatal death |
OMIM:618810 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased plasm... |
OMIM:201475 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Joint stiffness, Hepatomegaly, Splenomegaly, Osteop... |
ORPHA:465508 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Osteoporosis, Pericardial effusi... |
OMIM:239850 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
| Gaucher Disease |
|
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... |
ORPHA:355 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Sensorineural hearing impairment, Abetalipoproteinemia, Elevated circulating creatine kinase conc... |
ORPHA:96180 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Increased bone mineral density, Decreased osteoclast count, Hyperbili... |
OMIM:259720 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Osteopenia, Ventricular septal defect, Fractured radius, Hypertrophic cardio... |
OMIM:616897 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529799 |
| Cockayne Syndrome Type 1 |
|
Foot joint contracture, Increased blood urea nitrogen, Hepatomegaly |
ORPHA:90321 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Left ve... |
ORPHA:57777 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Refsum Disease, Classic |
|
Elevated levels of phytanic acid, Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
| Pycnodysostosis |
|
Increased bone mineral density, Coronal craniosynostosis, Hepatosplenomegaly, Generalized osteosc... |
ORPHA:763 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Contractures of the large joints, Abnormal atrioven... |
ORPHA:324410 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Visceromegaly, Sclerosis of hand bone, Pericardi... |
ORPHA:2905 |
| Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
| Dysosteosclerosis |
|
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... |
OMIM:224300 |
| Desmosterolosis |
|
Osteopetrosis, Anomalous pulmonary venous return, Increased bone mineral density, Splenomegaly |
ORPHA:35107 |
| Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Abnormal cardiac septum morphology, Increased bone mineral density, Abnormal v... |
ORPHA:90652 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Finger joint hypermobility, O... |
ORPHA:363705 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Cranial hyperostosis |
OMIM:259730 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited knee flexion/extension, Right ventricular hypertrophy, Elevated circulating creatine kina... |
ORPHA:268 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Elevated circulating creatinine concentration, Elevated circulating C-react... |
ORPHA:49041 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated ... |
OMIM:608836 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:619260 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia |
ORPHA:391428 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Increased bone mineral density, Hyperphosphatemia, Transient hypophosphatemia, Thic... |
OMIM:127000 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Ankylosis, Cardiomegaly |
OMIM:208000 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Increased bone mineral density, Abnormal pericardium morphology, Abnormal aortic v... |
ORPHA:35687 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... |
ORPHA:3240 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... |
OMIM:131300 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Hypocholesterolemia, Hypoalbuminemia, Macrotia |
OMIM:212065 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
| Werner Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Alg12-Cdg |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Hypocholesterolemia, Hypoalbuminemia... |
ORPHA:79324 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
| Desmosterolosis |
|
Joint contracture of the hand, Generalized osteosclerosis, Total anomalous pulmonary venous retur... |
OMIM:602398 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia, Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostos... |
ORPHA:89936 |
| Trichothiodystrophy |
|
Multiple joint contractures, Increased bone mineral density, Craniosynostosis, Osteopenia, Ventri... |
ORPHA:33364 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, E... |
ORPHA:228308 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Decreased HDL... |
ORPHA:14 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Hypocalcemia |
OMIM:618476 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Stiff neck, Cardiomegaly, Overriding aorta |
OMIM:617022 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Joint hypermobility |
OMIM:618798 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Optic disc pallor, Abnormal pinna morphology, Low-set ears |
OMIM:244450 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossification,... |
ORPHA:79443 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Hypocalcemic tetany, Hyperpho... |
ORPHA:79444 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Block ve... |
OMIM:306955 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Recurrent fractures, Bicuspid aortic valve, Atrial septal defect, Craniosynostosis, Osteopenia, L... |
OMIM:245600 |
| Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly |
ORPHA:1517 |
| Schwartz-Jampel Syndrome |
|
Joint stiffness, Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, ... |
ORPHA:800 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Raine Syndrome |
|
Hypophosphatemia, Increased bone mineral density, Arthrogryposis multiplex congenita, Subperioste... |
OMIM:259775 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
| Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly, Joint hypermobility |
OMIM:114620 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Hypocalcemic seiz... |
OMIM:612301 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Hepatom... |
ORPHA:667 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... |
ORPHA:2658 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:255249 |
| Tangier Disease |
|
Facial diplegia, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
| Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosi... |
OMIM:602782 |
| Infantile Krabbe Disease |
|
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... |
ORPHA:206436 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... |
ORPHA:101085 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
| Dubowitz Syndrome |
|
Hypocholesterolemia, Low-set ears, Protruding ear |
OMIM:223370 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Cardiomegaly, Joint hypermobility |
ORPHA:2463 |
| Atypical Werner Syndrome |
|
Aortic valve calcification, Aortic valve stenosis, Increased bone mineral density, Reduced bone m... |
ORPHA:79474 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... |
ORPHA:90363 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, H... |
ORPHA:308552 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Splenomegaly, Increased circulating NT-proBNP concentration, Elevated circulating c... |
OMIM:232300 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Primary Hyperoxaluria |
|
Recurrent fractures, Generalized osteosclerosis, Cardiomyopathy, Hyperoxaluria |
ORPHA:416 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Osteopenia, Radioulnar synostosis, Ventricular septal defect,... |
ORPHA:904 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Craniosynostosis, Increased serum beta-hexosaminidase, Osteopenia, Splenomegaly, Ca... |
OMIM:252500 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Ventricular septal defect, Dila... |
OMIM:614921 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Cardiomegaly |
OMIM:608013 |
| Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... |
ORPHA:171929 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Flexion contracture, Splenomegaly |
OMIM:230000 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| Smith-Lemli-Opitz Syndrome |
|
Elevated 7-dehydrocholesterol, Hearing impairment, Hypocholesterolemia, Hypoalbuminemia, Low-set ... |
OMIM:270400 |
| Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Hepatomegaly, Joint laxity, Arthrogryposis multiplex congenita, Card... |
OMIM:618143 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Mucopolysaccharidosis Type 3 |
|
Joint stiffness, Abnormal mitral valve morphology, Hepatomegaly, Flexion contracture, Reduced bon... |
ORPHA:581 |
| Mend Syndrome |
|
Elevated 8-dehydrocholesterol, Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-c... |
ORPHA:401973 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Tracheomalacia, Single ventricle, Tetralogy of Fallot, Tracheobronchomalaci... |
ORPHA:95430 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
| Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... |
ORPHA:909 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... |
OMIM:119600 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decrea... |
ORPHA:447 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Flexion contracture, Left ventricular hypertrophy, Elevated circulating creatine ki... |
ORPHA:365 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:216400 |
| Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Ventricular hypertrophy, Cardi... |
OMIM:618278 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Hypocalcemia, Hepatomegaly, Osteopetrosis, Elevated circulating creatine kin... |
ORPHA:2785 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Bilateral wrist flexion contracture, Fixed elbow flexion, Lim... |
ORPHA:97297 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Atrial septal defect, Hyperbilirubine... |
OMIM:619991 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Joint laxity, Hepatomegaly, Cardiomegaly |
ORPHA:96191 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... |
OMIM:269500 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Elevated circulating C-reactive protein concentration, Hepatomegal... |
OMIM:256040 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Sclerosis of skull base, Atrial septal defect, Thickened cortex ... |
OMIM:269150 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Secundum atrial septal defect, Hyperbilirubinemia, Atrial septal defect, E... |
OMIM:300855 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Hepatosplenomegaly, Arthritis, Hypertrophic cardiomyopathy, Cardiome... |
ORPHA:51 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly |
OMIM:130650 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Osteopenia, Mitral valve calcification, Osteop... |
OMIM:182250 |
| Yunis-Varon Syndrome |
|
Atrial septal defect, Absent sternal ossification, Tetralogy of Fallot, Decreased skull ossificat... |
ORPHA:3472 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Enlarged kidney, Visceromegaly, Hypertrop... |
ORPHA:116 |
| Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... |
ORPHA:51608 |
