| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Cardiomyop... |
OMIM:613752 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... |
OMIM:620366 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... |
OMIM:612526 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly |
OMIM:608776 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... |
ORPHA:280365 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Failure to thri... |
OMIM:619858 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... |
ORPHA:210110 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Reduced sub... |
ORPHA:363400 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... |
ORPHA:231111 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... |
OMIM:616834 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic ... |
OMIM:212065 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity,... |
OMIM:610883 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
OMIM:607765 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
| Alg12-Cdg |
|
Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Fa... |
ORPHA:79324 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Alg1-Cdg |
|
Hypoalbuminemia, Cardiomyopathy, Limitation of joint mobility, Abnormal heart morphology |
ORPHA:79327 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Ataxia,... |
OMIM:266510 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... |
OMIM:151660 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... |
OMIM:618156 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Osteopetrosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... |
ORPHA:96180 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... |
OMIM:620632 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase ... |
OMIM:615558 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hy... |
OMIM:608594 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pathologic fracture, Osteomyelitis, Splenomegaly, Hypocalcemia, Femur fracture, Osteopetrosis, Ca... |
OMIM:259700 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Arthritis |
ORPHA:37748 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Elev... |
OMIM:269700 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Hepatomegaly, Dilated cardiomyopathy |
OMIM:618805 |
| Abetalipoproteinemia |
|
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepat... |
ORPHA:14 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Splenomegaly, Cardiomegaly, Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... |
OMIM:617519 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Neonatal death, Aganglionic megacolon, T... |
OMIM:600501 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia, Hyperostosis, Periostosis |
OMIM:614441 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... |
OMIM:617885 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hepatosplenomegaly, Joint hypermobility, Hypertriglyceridemia |
OMIM:619013 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir... |
OMIM:606069 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Ventricular septal defect, Incre... |
ORPHA:1782 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperprolinemia, Hepatomegaly, Cardiomegaly, Hyperalaninemia |
OMIM:619064 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Salmonella osteomyelitis, Splenomegaly |
OMIM:209950 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial effusion |
OMIM:614702 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, ... |
OMIM:239000 |
| Pseudohypoparathyroidism Type 1B |
|
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... |
ORPHA:94089 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Hypertrophic cardiomyopathy, Endoc... |
OMIM:212140 |
| Autoinflammation With Infantile Enterocolitis |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circulating ferrit... |
OMIM:616050 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Orthostatic Hypotension 1 |
|
Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Joi... |
OMIM:223360 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Recurrent fractures, Enlarged kidney |
ORPHA:251004 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hepatomegaly, Perimembranous vent... |
OMIM:608104 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia, Sparse eyebrow, Brittle hair |
OMIM:618810 |
| Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... |
ORPHA:53 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... |
OMIM:618528 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decre... |
OMIM:608612 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect |
OMIM:616730 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... |
ORPHA:189427 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Dense c... |
OMIM:252920 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, H... |
ORPHA:367 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Distal arthrogr... |
ORPHA:42 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... |
ORPHA:36913 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Dec... |
ORPHA:90363 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hypert... |
ORPHA:158061 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Sparse lateral eyebrow, ... |
OMIM:223370 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Hepatosplenomegaly, Osteopetrosis,... |
OMIM:259710 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Distal symphalangism |
OMIM:154230 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia |
ORPHA:398063 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... |
ORPHA:88618 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Majeed Syndrome |
|
Osteomyelitis, Splenomegaly, Increased susceptibility to fractures, Synovitis, Hepatomegaly, Incr... |
ORPHA:77297 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... |
OMIM:614856 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Hyperammonemia, Eleva... |
OMIM:201475 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle,... |
ORPHA:1667 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Leishmaniasis |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly |
ORPHA:507 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification |
ORPHA:163649 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... |
OMIM:620609 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Hypoalbuminemia |
OMIM:308240 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Hepatomegaly, Splenomegaly |
OMIM:226990 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper... |
OMIM:255120 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Increased susceptibili... |
ORPHA:77261 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatomegaly |
ORPHA:79319 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density |
OMIM:616943 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
| Mulibrey Nanism |
|
Cardiomegaly, Thickened cortex of long bones, Pericardial constriction, Hepatomegaly, Myocardial ... |
OMIM:253250 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Cardiomyopathy, Hyperammonemia, Myocarditis, Pericardial effusion |
ORPHA:292 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, ... |
ORPHA:2780 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Osteope... |
OMIM:259720 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... |
OMIM:242150 |
| Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Difficulty walking, Inability to walk, Bruxism, Hypera... |
ORPHA:778 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets |
OMIM:614473 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hepatos... |
OMIM:603553 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Joint stiffness, Splenomegaly, Card... |
ORPHA:465508 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:256550 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Hepatosplenomegaly, Osteopetrosis, Splenomegaly |
OMIM:612840 |
| Al Amyloidosis |
|
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Abnormal heart morphology, Hypertrophic c... |
ORPHA:85443 |
| Gaucher Disease |
|
Aortic valve calcification, Osteopenia, Increased circulating ferritin concentration, Abnormal pe... |
ORPHA:355 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in li... |
OMIM:606721 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... |
ORPHA:289176 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly |
OMIM:601005 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia |
OMIM:613070 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Hypogonadism, Obesity, Polyphagia, Decreased serum leptin |
OMIM:614962 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi... |
OMIM:239850 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Foot joint contracture, Increased blood urea nitrogen |
ORPHA:90321 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Conjugated hyperbilir... |
OMIM:617093 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529808 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Hypertrophic cardiomyopathy, Decreased skull ossification, Cardiomegaly, Ventricular ... |
OMIM:616897 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hepatomegaly, Osteoporosis, Pe... |
OMIM:619487 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hypoproteinemia |
ORPHA:90362 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, General... |
ORPHA:79474 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Hypertrophic cardiomyopathy, Splenomegaly, Atrial septal defect, Hepatomegaly, F... |
OMIM:617303 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Joint hyperm... |
ORPHA:763 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... |
OMIM:127000 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Limited knee flexion/extension, Limited hip movement, Elevated circulating creatine kinase concen... |
ORPHA:268 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatomegaly |
OMIM:602579 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Abnormal pericardium morphology, Constrictive pericarditis |
ORPHA:67 |
| Poems Syndrome |
|
Visceromegaly, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomeg... |
ORPHA:2905 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hepatomegaly, Hypoproteinemia |
OMIM:226300 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Thrombocytopenia, Hypertriglyceridemia, ... |
ORPHA:31150 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Septic arthritis, Elevated circulating creatinine concentration, Osteomyelitis, ... |
ORPHA:36234 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Increased total bilirubin, Elbow flexion contracture, Elevated circulatin... |
OMIM:608836 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia... |
ORPHA:540 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Hypocalcemia, Hyponatremia, Arthritis, Elevated circulating C-reactive protein c... |
ORPHA:247353 |
| Desmosterolosis |
|
Joint contracture of the hand, Total anomalous pulmonary venous return, Abnormal circulating chol... |
OMIM:602398 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia |
ORPHA:391428 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:64743 |
| Seckel Syndrome 10 |
|
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... |
OMIM:617253 |
| Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Cholestatic liver disease, Hypoalbuminemia, Eczematoid dermatitis, Failure to... |
OMIM:270400 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... |
OMIM:618476 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Pericardial ef... |
OMIM:618183 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Sparse eyebrow, Sparse hair, Failure to thrive |
OMIM:244450 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Ventricular septal defe... |
OMIM:235510 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Abnormal heart valve morphology, Camptodactyly of ... |
ORPHA:90652 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... |
ORPHA:228308 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... |
ORPHA:324410 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
ORPHA:404454 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Hypophosphatemic rickets, Ankylosis, Dilated cardiomyopathy |
OMIM:208000 |
| Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Osteomyelitis, Abnormal aortic valve morphology, Increased bone ... |
ORPHA:35687 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Elevated circulating alpha-fetop... |
OMIM:251880 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Osteopenia, Abnormal heart valve morphology, Ventricular septal defect, Ca... |
ORPHA:363705 |
| Werner Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone mineral density |
ORPHA:902 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:618329 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Increased circulating ferritin concent... |
ORPHA:3240 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Hypertrophic cardiomyopathy, Abnormal heart morphology, Hepatosplenomegaly, Join... |
ORPHA:505248 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Tetralogy of Fallo... |
OMIM:222470 |
| Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... |
OMIM:131300 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, Arthritis, E... |
ORPHA:89936 |
| Trichothiodystrophy |
|
Osteopenia, Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Craniosynosto... |
ORPHA:33364 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, He... |
ORPHA:186 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Ventricular septal defect, Thickened cortex of long bones, ... |
OMIM:620558 |
| Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... |
ORPHA:79444 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Increased... |
ORPHA:79443 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Generalized osteoporosis, Osteopenia, Elbow flexion contracture, Mitral valve prolapse, Patent fo... |
OMIM:245600 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Osteomalacia, Hyperbilirubinemia, Splenomegaly, Increased circulat... |
OMIM:277900 |
| Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Joint stiffness, Hip contracture, Elevated circulating creatine kin... |
ORPHA:800 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Joint hypermobility, Ventricular septal defect |
OMIM:618798 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Delayed epiphyseal ossification |
OMIM:613320 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Hepatomegaly, H... |
OMIM:612301 |
| Raine Syndrome |
|
Increased bone mineral density, Hypophosphatemia, Arthrogryposis multiplex congenita, Subperioste... |
OMIM:259775 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin conce... |
OMIM:620306 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hypomagnesemia, Osteomyelitis, Hypocalcemia, Splenomegaly, Decreased circulating... |
ORPHA:37042 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula... |
OMIM:232300 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... |
OMIM:617156 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
| Nestor-Guillermo Progeria Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Failure to thrive, Nail dystrophy, Sparse eyelashes,... |
OMIM:614008 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, Osteopetrosis,... |
ORPHA:667 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
ORPHA:308552 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... |
ORPHA:2658 |
| Keppen-Lubinsky Syndrome |
|
Recurrent pneumonia, Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, L... |
OMIM:614098 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Osteopenia, Rickets, Hypocalcemia, Joint hypermobility, Thin bony cortex, Unconj... |
OMIM:613658 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria |
OMIM:259900 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Hyperoxaluria, Recurrent fractures, Cardiomyopathy |
ORPHA:416 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... |
ORPHA:101085 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
| Kawasaki Disease |
|
Hypoalbuminemia, Double outlet right ventricle with subpulmonary ventricular septal defect withou... |
ORPHA:2331 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Osteopenia, Abnormal bone ossification, Joint hypermobility |
ORPHA:2463 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Splenomegaly, Mitral valv... |
OMIM:602782 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Elevated circulating creatine ki... |
OMIM:614921 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Atrial septal defect, Abnormal heart morphology |
ORPHA:79076 |
| Williams Syndrome |
|
Synostosis of joints, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov... |
ORPHA:904 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Osteopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Osteoporosis |
ORPHA:171 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Osteopenia, Limitation of joint mobility, Hypertrophic cardi... |
OMIM:252500 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Joint contracture of the hand, Camptodactyly |
OMIM:251300 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Stiff neck, Ventricular septal defect |
OMIM:617022 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Hyperbilirubinemia, Ventricular septal defect, Dextroca... |
OMIM:619534 |
| Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... |
ORPHA:79330 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... |
ORPHA:99826 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy |
ORPHA:158687 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... |
ORPHA:171929 |
| Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Joint hypermobility, Cardiomegaly, Hepatomegaly, Arthrogryposis mult... |
OMIM:618143 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita |
OMIM:608013 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Joint stiffness, Splenomegaly, Abnormal aortic valve morphology, Abnor... |
ORPHA:581 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Craniosynostosis |
ORPHA:79396 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... |
ORPHA:447 |
| Mend Syndrome |
|
Low-set ears, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal auditory evoked ... |
ORPHA:401973 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Splenomegaly, Arthritis, Elevated circulating C-rea... |
OMIM:619381 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardio... |
ORPHA:95430 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
ORPHA:365 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... |
OMIM:133540 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... |
OMIM:216400 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Shuffling gait, Dystrophic toenail, Delayed menarche, Alopecia totalis, Absen... |
ORPHA:740 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Liver Disease, Severe Congenital |
|
Joint hypermobility, Increased circulating ferritin concentration, Dilatation of the ventricular ... |
OMIM:619991 |
| Fucosidosis |
|
Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Osteopetrosis, Hepatomegaly, Re... |
ORPHA:2785 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthritis, Elevated circulating C-r... |
OMIM:620376 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Bohring-Opitz Syndrome |
|
Limitation of joint mobility, Congenital contracture, Cardiomegaly, Abnormal cardiac septum morph... |
ORPHA:97297 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Hypertriglyceridemia, Splenomegaly, Cardiomeg... |
OMIM:256040 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Joint hypermobility, Ventricular septal defect |
ORPHA:96191 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Hyperbilirubinemia, Patent foramen ovale, Ventricular septal defec... |
OMIM:300855 |
| Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones, Atrial ... |
OMIM:269150 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Finger joint hypermobility, Tracheomalacia, Patent foramen ovale |
OMIM:620371 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Arthr... |
ORPHA:51 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... |
ORPHA:116 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Decreased skull oss... |
ORPHA:3472 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Osteopenia, Cardiomegaly, Osteolytic defects o... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Osteomalacia, Hypophosphatemic rickets, Cardiomegaly, Abnormal calcifica... |
ORPHA:51608 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Osteopenia, Hypertrophic cardiomyopathy, Multiple joint contractures, Reduced th... |
ORPHA:79318 |
