Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Immunodeficiency 12 |
|
Osteoporosis |
OMIM:615468 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly |
OMIM:264010 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis |
ORPHA:3294 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Osteoporosis |
OMIM:256720 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance |
ORPHA:140941 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance |
OMIM:614662 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis |
OMIM:277950 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Generalized osteoporosis, Osteoporosis |
OMIM:601220 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Contractures of the large joints, Osteoporosis |
OMIM:608278 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatic steatosis |
OMIM:615595 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Osteopenia, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis |
ORPHA:397685 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
Hyaline Fibromatosis Syndrome |
|
Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion contractures |
OMIM:228600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Gout, Osteoporosis |
OMIM:610947 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis |
OMIM:613606 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... |
OMIM:136300 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Skeletal muscle hyper... |
OMIM:613877 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:616829 |
Isolated Glycerol Kinase Deficiency |
|
Osteoporosis |
ORPHA:408 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis |
OMIM:166260 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Osteoporosis |
ORPHA:85193 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Osteoporosis, Reduced bone mineral density |
ORPHA:2410 |
Growth Hormone Insensitivity Syndrome |
|
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Type II diabetes mellitus, Hepatic steatosis |
OMIM:615703 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Recurrent fractures, Joint laxity, Osteoporosis |
OMIM:248010 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis |
OMIM:618234 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Myopathy |
ORPHA:79087 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Insulin resistance, Hepatic st... |
OMIM:612526 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Macroglossia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Mater... |
ORPHA:99886 |
Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Lower limb muscle weakness, Diabetes mellitus, Insulin resistance, Hepatic st... |
OMIM:615980 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Maternal diabetes, Insulin-resistant diab... |
OMIM:604367 |
Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Osteoporosis |
OMIM:613849 |
Adrenomyodystrophy |
|
Hepatic steatosis |
OMIM:300270 |
Mu-Heavy Chain Disease |
|
Osteolysis, Osteoporosis |
ORPHA:100024 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Hypercholanemia, Familial, 2 |
|
Osteopenia |
OMIM:619256 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus |
ORPHA:90301 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Ovarian Dysgenesis 8 |
|
Osteoporosis |
OMIM:618187 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... |
OMIM:603471 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Osteoporosis |
OMIM:126550 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia |
OMIM:617885 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Abnormal bone ossification, Epiphyseal stippling |
ORPHA:1952 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
Rothmund-Thomson Syndrome, Type 1 |
|
Osteoporosis |
OMIM:618625 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Osteoporosis |
OMIM:616033 |
Juvenile Paget Disease |
|
Recurrent fractures, Coarse metaphyseal trabecularization, Cranial hyperostosis, Osteoporosis |
ORPHA:2801 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis |
ORPHA:2958 |
Shashi-Pena Syndrome |
|
Osteoporosis |
OMIM:617190 |
Thrombocytopenia 6 |
|
Osteoporosis, Myelofibrosis |
OMIM:616937 |
Bruck Syndrome 1 |
|
Hip contracture, Osteoporosis, Joint laxity, Elbow flexion contracture, Increased susceptibility ... |
OMIM:259450 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Flexion contracture, Hyperglycemia |
OMIM:618856 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis |
OMIM:614838 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Gracile Syndrome |
|
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis |
ORPHA:53693 |
Prieto Syndrome |
|
Osteoporosis |
OMIM:309610 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Hepatomegaly, Insulin-resistant diabetes mellitus |
ORPHA:79085 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... |
ORPHA:79106 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Osteoporosis |
ORPHA:79301 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Osteoporosis |
OMIM:614727 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Analbuminemia |
|
Osteoporosis |
OMIM:616000 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Cholestasis, Elevated hepatic transaminase, Portal fibrosis, Hepatic st... |
OMIM:614300 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis multiplex congenita |
ORPHA:2771 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly |
OMIM:606069 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Maternal diabet... |
ORPHA:79083 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619048 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... |
OMIM:600785 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Osteoporosis, Fractures of the long bones |
ORPHA:319195 |
Perrault Syndrome 1 |
|
Osteoporosis |
OMIM:233400 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hepatic steatosis, Myopathy |
ORPHA:363400 |
Hemochromatosis Type 2 |
|
Osteoporosis |
ORPHA:79230 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis |
OMIM:610628 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Osteogenesis Imperfecta, Type Xiii |
|
Osteoporosis, Increased bone mineral density, Joint hypermobility |
OMIM:614856 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatomegaly, Hepatic ... |
OMIM:618805 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Diabetes mellitus, Insulin resi... |
OMIM:615381 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Insulin-resis... |
ORPHA:435660 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure |
OMIM:615438 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Osteoporosis |
ORPHA:369 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis |
OMIM:601811 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Osteoporosis, Camptodactyly |
OMIM:616006 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis |
OMIM:612463 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, In... |
ORPHA:90970 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:369840 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis |
ORPHA:26792 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Osteoporosis |
ORPHA:48431 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures |
ORPHA:2788 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple... |
ORPHA:457083 |
Warburg Micro Syndrome 1 |
|
Osteoporosis, Joint hypermobility |
OMIM:600118 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:529665 |
Sialidosis Type 2 |
|
Osteoporosis, Flexion contracture |
ORPHA:87876 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Rickets |
OMIM:146350 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Osteoporosis, Pathologic fracture, Abnormal bone structure, Painless fr... |
ORPHA:2583 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Abnormality of skeletal mu... |
ORPHA:2348 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density |
ORPHA:970 |
Glycerol Kinase Deficiency |
|
Osteoporosis, Pathologic fracture |
OMIM:307030 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Hall-Riggs Mental Retardation Syndrome |
|
Osteoporosis |
OMIM:234250 |
Cranioectodermal Dysplasia |
|
Joint hyperflexibility, Osteoporosis, Craniosynostosis |
ORPHA:1515 |
Tenosynovial Giant Cell Tumor |
|
Localized osteoporosis, Osteolysis, Limitation of joint mobility, Joint stiffness |
ORPHA:66627 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Synostosis of carpal bones, Osteoporosis |
ORPHA:93351 |
Amish Lethal Microcephaly |
|
Limitation of joint mobility, Osteoporosis, Decreased skull ossification |
ORPHA:99742 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Progressive Pseudorheumatoid Dysplasia |
|
Joint stiffness, Joint contracture of the hand, Osteoarthritis, Camptodactyly of finger, Osteopor... |
OMIM:208230 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614582 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Macroglossia, Skeletal muscle hypertrophy, Cirrhosis, Diabetes me... |
ORPHA:528 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Hutchinson-Gilford Progeria Syndrome |
|
Generalized osteoporosis, Osteolysis |
OMIM:176670 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
Indolent Systemic Mastocytosis |
|
Osteoporosis |
ORPHA:98848 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... |
OMIM:278000 |
Osteogenesis Imperfecta, Type Xvii |
|
Osteoporosis |
OMIM:616507 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Osteopenia, Increased susceptibility to fractures |
OMIM:615066 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Hyperparathyroidism 4 |
|
Osteopenia |
OMIM:617343 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Macrovesicular ... |
OMIM:256810 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Reduced bone mineral density, Osteopenia, Symmetric polyarthritis, Synovitis, Limitation of joint... |
ORPHA:85435 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Osteoporosis, Joint hypermobility |
OMIM:619131 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:600649 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin bony cortex, Joint laxity, Joint hypermobility, Generalized osteoporosis |
OMIM:617952 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contracture, Art... |
OMIM:214150 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Calf muscle pseudohypertrophy, Acute pancreatitis, Ins... |
ORPHA:79086 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Camptodactyly of finger, Flexion contracture of toe, Osteoporosis |
ORPHA:3409 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated hepatic transaminase, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density |
OMIM:619489 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis |
OMIM:266510 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna |
ORPHA:77296 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis |
OMIM:615830 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepat... |
OMIM:261680 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... |
ORPHA:2298 |
Carnitine Deficiency, Systemic Primary |
|
Elevated hepatic transaminase, Decreased carnitine level in liver, Hepatomegaly, Hepatic steatosis |
OMIM:212140 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... |
OMIM:235200 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepa... |
ORPHA:905 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated circulating aspartate aminotransferase concentration, Glycosuria, I... |
OMIM:617253 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Generalized osteoporosis |
ORPHA:99879 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis |
OMIM:615954 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure |
OMIM:231530 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Duchenne And Becker Muscular Dystrophy |
|
Joint stiffness, Reduced bone mineral density |
ORPHA:262 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... |
OMIM:308750 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:255120 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, ... |
ORPHA:79303 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthritis, Osteolysis, C... |
ORPHA:371428 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Increased intramyocellular lipid droplets, Abnormal muscle fiber morp... |
ORPHA:681 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:300536 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Osteoporosis, Reduced bone mineral density |
ORPHA:2235 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis |
ORPHA:785 |
Adrenomyodystrophy |
|
Hepatic steatosis |
ORPHA:977 |
Spondylo-Ocular Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:85194 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Osteopenia, Osteomalacia, Osteoporosis, Joint hyperflexibility, Rickets |
ORPHA:1901 |
Menkes Disease |
|
Joint laxity, Osteoporosis |
OMIM:309400 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Contractures of the large joints, Insulin-resistant diabet... |
ORPHA:2457 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Osteoporosis, Arthritis, Osteolytic defects of the phalanges of the hand, Limitation ... |
OMIM:259100 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance |
ORPHA:73272 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal muscle hypertrophy, M... |
OMIM:613327 |
Infantile Systemic Hyalinosis |
|
Joint stiffness, Recurrent fractures, Osteopenia, Camptodactyly of finger, Osteomalacia, Osteopor... |
ORPHA:2176 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Coxoauricular Syndrome |
|
Reduced bone mineral density |
ORPHA:1508 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... |
OMIM:613070 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Osteoporosis |
OMIM:219080 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis |
OMIM:619013 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis |
OMIM:610475 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:435651 |
Classic Galactosemia |
|
Osteoporosis, Reduced bone mineral density |
ORPHA:79239 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... |
OMIM:600081 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Abnormal bone ossification, Joint hyperflexibility, Osteoporosis |
ORPHA:2078 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Bicoronal synostosis, Joint hypermobility |
OMIM:619718 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets |
ORPHA:71 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Hepatic steatosis |
ORPHA:70472 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis |
ORPHA:199354 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... |
ORPHA:93284 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Odontochondrodysplasia 1 |
|
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility |
OMIM:184260 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Generalized osteoporosis, Limitation of joint mobility, Osteoporosis |
OMIM:236200 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Osteopenia, Ankylosis, Osteoporosis |
OMIM:239000 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, He... |
ORPHA:2088 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Perrault Syndrome 4 |
|
Osteoporosis |
OMIM:615300 |
Geroderma Osteodysplasticum |
|
Recurrent fractures, Hyperextensibility of the finger joints, Osteopenia, Osteoporosis, Camptodac... |
OMIM:231070 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Periportal fibrosis |
OMIM:201475 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Decreased calvarial ossification, Severe generalized osteoporosis, Bowing of... |
OMIM:259420 |
Cantu Syndrome |
|
Osteoporosis |
OMIM:239850 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Niemann-Pick Disease, Type A |
|
Osteoporosis |
OMIM:257200 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Joint contracture of the hand, Osteoporosis, Wrist flexion contracture, Flexion ... |
OMIM:255800 |
Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Subcutaneous ossification |
OMIM:103580 |
Desbuquois Dysplasia 1 |
|
Advanced ossification of carpal bones, Osteoarthritis, Osteoporosis, Joint laxity, Advanced tarsa... |
OMIM:251450 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Metatarsal osteolysis, Osteopenia, Camptodactyly of toe, Osteoporosis, Thin bony... |
OMIM:259600 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Generalized joint laxity, Osteopenia, Osteoarthritis, Osteoporos... |
OMIM:618000 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma, Elevated hepat... |
ORPHA:101330 |
Sickle Cell Anemia |
|
Osteomyelitis, Osteoporosis |
ORPHA:232 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure |
ORPHA:228305 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Hep... |
OMIM:246200 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis |
OMIM:610198 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function |
ORPHA:42 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... |
ORPHA:465508 |
Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis |
OMIM:612462 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Osteoporosis |
OMIM:610489 |
Pontocerebellar Hypoplasia, Type 2E |
|
Osteoporosis, Flexion contracture |
OMIM:615851 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Muscle hypertrophy of the ... |
ORPHA:280365 |
Aggressive Systemic Mastocytosis |
|
Osteolysis, Osteoporosis, Pathologic fracture |
ORPHA:98850 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cholestasis, Hepatocellular aden... |
ORPHA:370 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... |
OMIM:615486 |
19P13.3 Microduplication Syndrome |
|
Osteoporosis |
ORPHA:447980 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:3163 |
Richards-Rundle Syndrome |
|
Joint stiffness, Reduced bone mineral density |
ORPHA:1399 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Osteoporosis |
OMIM:615398 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hydroureter, Pigmentary retinopathy, Hypothyroidism, Optic atrophy, Hydroneph... |
OMIM:222300 |
Xp21 Deletion Syndrome |
|
Joint laxity, Osteoporosis, Reduced bone mineral density |
ORPHA:261476 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Macroglossia, Insulin resistance, Diabetic ketoacidosis, Impaired glu... |
ORPHA:769 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Hepatomegaly |
OMIM:614922 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand, Hyperglycemia |
OMIM:175700 |
Lowry-Maclean Syndrome |
|
Osteopenia, Osteoporosis, Craniosynostosis |
ORPHA:2409 |
Werner Syndrome |
|
Osteoporosis, Reduced bone mineral density |
OMIM:277700 |
Propionic Acidemia |
|
Osteoporosis |
OMIM:606054 |
Familial Multiple Lipomatosis |
|
Insulin resistance |
ORPHA:199276 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Testicular atrophy |
OMIM:613987 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Elbow flexion contracture, Osteoporosis, Flexion contracture |
OMIM:614438 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Reduced bone mineral density, Abnormally ossified vertebrae, Osteoporosis,... |
ORPHA:94068 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Osteoporosis |
OMIM:612562 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Reduced bone mineral density |
ORPHA:231222 |
Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia, Decreased muscle mass |
ORPHA:813 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Joint contracture of the hand, Camptodactyly, Abnormality of hand joint mobility, Generalized ost... |
ORPHA:1159 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Lower limb muscle weakness, Hyperglycemia |
OMIM:619737 |
Whipple Disease |
|
Insulin resistance, Hepatomegaly, Myositis, Splenomegaly |
ORPHA:3452 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... |
OMIM:300972 |
Nestor-Guillermo Progeria Syndrome |
|
Joint stiffness, Flexion contracture, Osteoporosis, Limited elbow movement, Progressive clavicula... |
OMIM:614008 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:212138 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets |
ORPHA:309031 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis |
ORPHA:96168 |
Methylcobalamin Deficiency Type Cble |
|
Osteoporosis |
ORPHA:2169 |
Pachydermoperiostosis |
|
Osteomyelitis, Osteoporosis, Arthritis, Osteolysis, Abnormal cortical bone morphology, Limitation... |
ORPHA:2796 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Osteoporosis |
ORPHA:91348 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... |
OMIM:264700 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:2326 |
Osteoporosis-Pseudoglioma Syndrome |
|
Pathologic fracture, Osteoporosis, Increased susceptibility to fractures, Joint hypermobility |
OMIM:259770 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Hepatocellular adenoma, Elevated hepatic tran... |
ORPHA:264580 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
ORPHA:79322 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Osteoporosis |
OMIM:253010 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Ivory epiphyses of the phalanges of the hand, Osteoporosis |
OMIM:226980 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Osteoporosis, Camptodactyly, Generalized joint laxity |
ORPHA:432 |
Refractory Celiac Disease |
|
Osteoporosis |
ORPHA:398063 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis |
ORPHA:52430 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral... |
OMIM:120200 |
Nail-Patella Syndrome |
|
Proximal finger joint hyperextensibility, Limited pronation/supination of forearm, Flexion contra... |
ORPHA:2614 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Macs Syndrome |
|
Joint laxity, Osteoporosis, Joint hypermobility |
OMIM:613075 |
Werner Syndrome |
|
Insulin resistance, Type II diabetes mellitus, Skeletal muscle atrophy |
ORPHA:902 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility |
ORPHA:363705 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
OMIM:300009 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Calvarial osteosclerosis, Osteopenia, Metacarpal periosteal thickening |
OMIM:617994 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
Neu-Laxova Syndrome |
|
Flexion contracture, Osteopenia, Osteomalacia, Osteoporosis, Arthrogryposis multiplex congenita, ... |
ORPHA:2671 |
Mastocytosis |
|
Recurrent fractures, Osteoporosis |
ORPHA:98292 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Calcinosis |
ORPHA:90154 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Osteoporosis |
OMIM:224230 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice |
OMIM:231680 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Joint hypermobility, Reduced bone mineral density |
OMIM:619115 |
Stüve-Wiedemann Syndrome |
|
Recurrent fractures, Flexion contracture of finger, Flexion contracture, Osteopenia, Camptodactyl... |
ORPHA:3206 |
Citrullinemia Type Ii |
|
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic fibr... |
ORPHA:247585 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Pathologic fracture |
OMIM:612199 |
Lipodystrophy, Familial Partial, Type 2 |
|
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Skeletal muscle hypertrophy, Acute pan... |
OMIM:151660 |
X Small Rings |
|
Joint laxity, Osteoporosis, Reduced bone mineral density |
ORPHA:96201 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Diastasis recti, Cholestatic liver disease, Flexion contracture, Chol... |
ORPHA:440713 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Micronodular cirrhosis |
ORPHA:98907 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... |
OMIM:277440 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Diabetes mellitus |
OMIM:616541 |
Short Syndrome |
|
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:269880 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Osteoporosis |
OMIM:613990 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Osteoporosis |
OMIM:253000 |
Brittle Cornea Syndrome |
|
Joint hyperflexibility, Osteoporosis, Increased susceptibility to fractures, Camptodactyly |
ORPHA:90354 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase |
ORPHA:298 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Recurrent fractures, Craniosynostosis, Osteopenia, Osteoporosis, Radioulnar synostosis, Elbow fle... |
OMIM:245600 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... |
ORPHA:289157 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Generalized joint laxity, Osteopenia, Osteoporosis, Elbow flexion contracture, Joint hyperflexibi... |
ORPHA:1900 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... |
OMIM:608612 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture |
ORPHA:90153 |
Pituitary Adenoma 4, Acth-Secreting |
|
Osteoporosis |
OMIM:219090 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis |
OMIM:210200 |
Familial Chylomicronemia Syndrome |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Recurrent pancreatitis, Hepatic steatosis |
ORPHA:444490 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... |
ORPHA:456312 |
Aromatase Deficiency |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis |
ORPHA:91 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Thin bony cortex |
OMIM:309583 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... |
OMIM:260370 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Osteoporosis |
OMIM:613989 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Por... |
OMIM:619377 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Osteoporosis |
OMIM:127550 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure |
ORPHA:99901 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis |
OMIM:300998 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:348 |
Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy, Biliary tract abnormality, Hepatic fibrosis, Diabetes mellitus, Ins... |
OMIM:209900 |
Cantú Syndrome |
|
Osteoporosis |
ORPHA:1517 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized osteoporosis |
ORPHA:2959 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Hepatic steatosis, Hepatomegaly |
ORPHA:412 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Hepatosplenomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hepatic fibr... |
OMIM:619487 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets |
OMIM:212750 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:398079 |
Cleidocranial Dysplasia |
|
Recurrent fractures, Osteoporosis, Decreased skull ossification |
ORPHA:1452 |
Farber Disease |
|
Osteoporosis, Flexion contracture, Arthritis |
ORPHA:333 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Bowing of limbs due to multiple fractures, Increased susceptibility to fract... |
OMIM:166220 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Decreased muscle mass, Insulin resistance |
ORPHA:96182 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice |
OMIM:228100 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Foot acroosteolysis, Osteoporosis, Pathologic fracture, Osteolytic defects of the pha... |
OMIM:102500 |
Necrotizing Enterocolitis |
|
Peritonitis, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
Leprechaunism |
|
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Fasting hypoglyce... |
ORPHA:508 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Osteoporosis, Increased susceptibility to fractures |
ORPHA:189427 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Camptodactyly, Flexion contracture of toe, Elbow flexion contr... |
OMIM:601559 |
Glycogen Storage Disease Ia |
|
Gout, Osteoporosis |
OMIM:232200 |
Cerebrotendinous Xanthomatosis |
|
Osteoporosis |
OMIM:213700 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly |
OMIM:619273 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatic necrosis, Hepatic steatosis, Acute hepatic failure |
ORPHA:71212 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:616263 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Osteoporosis |
ORPHA:79240 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:445038 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis, Flexion contracture |
ORPHA:398069 |
Prolactinoma |
|
Osteopenia, Osteoporosis |
ORPHA:2965 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Impaired glucose tolerance, Camptodactyly, I... |
OMIM:248370 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Osteoporosis, Increased susceptibility to fractures |
ORPHA:98849 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Chronic active hepatitis, Hepatomegaly, Hepatic steatosis |
OMIM:203800 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Osteoporosis, Increased susceptibility to fractures |
ORPHA:189439 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis |
ORPHA:254346 |
Glycogen Storage Disease Ib |
|
Gout, Osteoporosis |
OMIM:232220 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Diffuse hepatic steatosis, Hepatomegaly, Decreased liver function |
ORPHA:436271 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Microvesicular hepatic steatosis, Cholestasis, Elevated hepatic transam... |
OMIM:124000 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Osteoporosis |
ORPHA:98754 |
Hajdu-Cheney Syndrome |
|
Recurrent fractures, Osteopenia, Joint hyperflexibility, Osteoporosis, Osteolysis, Coarse metaphy... |
ORPHA:955 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
ORPHA:739 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Recurrent fractures, Craniosynostosis, Tracheomalacia, Osteopenia, O... |
ORPHA:536467 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Osteoporosis |
ORPHA:98793 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis |
OMIM:616672 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Osteoporosis |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Osteoporosis |
ORPHA:177901 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Classic Homocystinuria |
|
Recurrent fractures, Joint stiffness, Osteoporosis |
ORPHA:394 |
Occipital Horn Syndrome |
|
Osteoporosis, Limited elbow extension, Joint laxity, Limited knee extension, Capitate-hamate fusion |
OMIM:304150 |
Primary Biliary Cholangitis |
|
Osteoporosis |
ORPHA:186 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Osteoporosis, Contracture of the proximal interphalangeal joint of the 5th finger |
ORPHA:2232 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Dominant Beta-Thalassemia |
|
Osteoporosis |
ORPHA:231226 |
Prader-Willi Syndrome |
|
Osteopenia, Osteoporosis |
OMIM:176270 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Lower-limb joint contracture, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabe... |
ORPHA:99885 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Glucose intolerance, Type II diabetes mellitus, Diabetic ketoacidosis, ... |
ORPHA:358 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly |
OMIM:249420 |
Schwartz-Jampel Syndrome |
|
Joint stiffness, Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, ... |
ORPHA:800 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Elevated circulating aspa... |
OMIM:608836 |
Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:398073 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure, Hepatocellular car... |
OMIM:277900 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Osteoporosis |
OMIM:225400 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Synostosis of joints, Osteolysis, Joint hyperflexibility,... |
ORPHA:198 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Eleva... |
ORPHA:93111 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Bile duct proliferation, Elevated hepatic transaminase, Decreased liver function, Macrovesicular ... |
OMIM:618329 |
Dent Disease |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
ORPHA:1652 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Facial diplegia, Hyperinsulinemia, Weakness of facial musculature, Pelvic girdle ... |
ORPHA:273 |
Menkes Disease |
|
Recurrent fractures, Osteomyelitis, Osteoporosis, Tarsal synostosis, Joint hyperflexibility |
ORPHA:565 |
Tbck-Related Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:488632 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Osteolysis, Osteoporosis |
ORPHA:95159 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic calcification, Hepatic steatosis, Hepatomegaly, Hepatic failure |
ORPHA:228308 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hyperglycemia |
ORPHA:90065 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ... |
OMIM:261515 |
Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:243910 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:212065 |
Beta-Thalassemia Major |
|
Osteoporosis |
ORPHA:231214 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Carpal synostosis, Advanced ossification of carpal bones, Flexion contracture, Delayed proximal f... |
OMIM:271640 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis |
ORPHA:746 |
3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis |
OMIM:616271 |
Bloom Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:125 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Dyskeratosis Congenita |
|
Recurrent fractures, Coarse metaphyseal trabecularization, Osteoporosis |
ORPHA:1775 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:615356 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Testicular atrophy |
OMIM:300322 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
ORPHA:66634 |
X-Linked Intellectual Disability, Snyder Type |
|
Recurrent fractures, Osteoporosis, Camptodactyly |
ORPHA:3063 |
Lathosterolosis |
|
Osteoporosis, Pathologic fracture |
OMIM:607330 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Osteoporosis |
ORPHA:254892 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|