| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, 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 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Immunodeficiency 12 |
|
Osteoporosis |
OMIM:615468 |
| Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility |
ORPHA:3294 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance |
ORPHA:140941 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
| Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
| Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance |
OMIM:614662 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Winchester Syndrome |
|
Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal bones |
OMIM:277950 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility |
ORPHA:2787 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Familial Hyperprolactinemia |
|
Osteoporosis, Osteopenia |
ORPHA:397685 |
| Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Osteopenia, Mandibular osteomyelitis, Recurrent fractures |
ORPHA:53697 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Idiopathic Hypercalciuria |
|
Osteoporosis, Osteopenia |
ORPHA:2197 |
| Hyaline Fibromatosis Syndrome |
|
Flexion contracture, Progressive flexion contractures, Osteolysis, Osteopenia, Osteoporosis |
OMIM:228600 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Gout, Osteoporosis |
OMIM:610947 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase |
OMIM:618400 |
| Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Insulin resistance, Skeletal muscle hypertrophy, Insulin-resistant diabetes me... |
OMIM:613877 |
| Isolated Glycerol Kinase Deficiency |
|
Osteoporosis |
ORPHA:408 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis |
OMIM:613606 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function |
OMIM:616829 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2410 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
| Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis |
ORPHA:139491 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Increased susceptibility to fractures, Osteopenia, Osteoporosis |
OMIM:612287 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
| Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Type II diabetes mellitus, Insulin resistance |
OMIM:615703 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Myopathy, Insulin resistance |
ORPHA:79087 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia |
OMIM:615266 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Splen... |
OMIM:612526 |
| Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly |
OMIM:232700 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Increased susceptibility to fractures, Osteopenia, Osteoporosis |
OMIM:612286 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lower limb muscle weakness, Muscular dystrophy, Insulin resistance, Hepatic steatosis, Diabetes m... |
OMIM:615980 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatic steatosis, Elevated hepatic transaminase, Increased muscle lipid content, Hepatomegaly |
OMIM:610717 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:614880 |
| Mu-Heavy Chain Disease |
|
Osteolysis, Osteoporosis |
ORPHA:100024 |
| Hypercholanemia, Familial, 2 |
|
Osteopenia |
OMIM:619256 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
| Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Macroglossia, Mat... |
ORPHA:99886 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus |
ORPHA:90301 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
| Ovarian Dysgenesis 8 |
|
Osteoporosis |
OMIM:618187 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
| Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice |
ORPHA:3111 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Osteoporosis, Joint laxity |
OMIM:616033 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Epiphyseal stippling, Abnormal bone ossification, Coarse metaphyseal trabecularization |
ORPHA:1952 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures |
OMIM:126550 |
| Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
| Familial Renal Glucosuria |
|
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Osteoporosis |
OMIM:618625 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
| Juvenile Paget Disease |
|
Cranial hyperostosis, Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures |
ORPHA:2801 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Insulin resistance |
OMIM:617885 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis |
ORPHA:2958 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus |
OMIM:618856 |
| Thrombocytopenia 6 |
|
Osteoporosis, Myelofibrosis |
OMIM:616937 |
| Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Hip contracture, Elbow flexion c... |
OMIM:259450 |
| Prieto Syndrome |
|
Osteoporosis |
OMIM:309610 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatomegaly |
ORPHA:79085 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
| Eiken Syndrome |
|
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... |
ORPHA:79106 |
| African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Elevated hepatic transaminase |
ORPHA:329249 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Osteoporosis |
ORPHA:79301 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Osteoporosis, Joint laxity |
OMIM:614727 |
| Analbuminemia |
|
Osteoporosis |
OMIM:616000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... |
OMIM:619048 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Hemochromatosis, Type 4 |
|
Hepatic steatosis, Cirrhosis, Hepatomegaly |
OMIM:606069 |
| Bruck Syndrome |
|
Osteoporosis, Joint stiffness, Recurrent fractures, Arthrogryposis multiplex congenita |
ORPHA:2771 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis |
OMIM:618234 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... |
OMIM:264470 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Cirrhosis, Maternal diabetes, Insulin resistance, Abnormality of skeletal muscle fi... |
ORPHA:79083 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic steatosis, Hepatic failure, Hepatomegaly |
OMIM:617872 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... |
OMIM:600785 |
| Perrault Syndrome 1 |
|
Osteoporosis |
OMIM:233400 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis |
OMIM:614838 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
| Hemochromatosis Type 2 |
|
Osteoporosis |
ORPHA:79230 |
| Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Increased muscle glycogen content, Splenomegaly, Hepatomegaly |
OMIM:261750 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteoporosis, Osteopenia, Fractures of the long bones |
ORPHA:319195 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis |
OMIM:608709 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Myopathy, Hepatomegaly |
ORPHA:363400 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly |
OMIM:615438 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis |
OMIM:610628 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... |
OMIM:615381 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Insulin-resistant diabetes me... |
ORPHA:435660 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... |
OMIM:618641 |
| Osteogenesis Imperfecta, Type Xii |
|
Osteoporosis, Generalized osteoporosis, Recurrent fractures, Hyperextensibility of the finger joints |
OMIM:613849 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hep... |
OMIM:618805 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... |
ORPHA:209902 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteoporosis, Osteopenia |
ORPHA:369 |
| Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis |
OMIM:601811 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis |
OMIM:615996 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Osteoporosis |
OMIM:616006 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Osteoporosis |
ORPHA:48431 |
| Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Myopat... |
ORPHA:90970 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Camptodactyly of toe, Osteoarthritis of the elbow, Bone cyst, Osteoporos... |
ORPHA:2848 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis |
ORPHA:26792 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis |
OMIM:612463 |
| Mycetoma |
|
Osteomyelitis, Painless fractures due to injury, Abnormal bone structure, Bone cyst, Pathologic f... |
ORPHA:2583 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Joint laxity, Increased susceptibility to fractures, Osteopenia, Osteoporosis |
ORPHA:2788 |
| Warburg Micro Syndrome 1 |
|
Osteoporosis, Joint hypermobility |
OMIM:600118 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:618392 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
| Sialidosis Type 2 |
|
Flexion contracture, Osteoporosis |
ORPHA:87876 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Abnormality of skeletal muscle fiber size, Insulin resistance, Hepatic steatosis, D... |
ORPHA:2348 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... |
OMIM:614582 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Elevated... |
ORPHA:64743 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density |
ORPHA:970 |
| Glycerol Kinase Deficiency |
|
Pathologic fracture, Osteoporosis |
OMIM:307030 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteoporosis, Osteopenia |
ORPHA:529665 |
| Hall-Riggs Mental Retardation Syndrome |
|
Osteoporosis |
OMIM:234250 |
| Tenosynovial Giant Cell Tumor |
|
Osteolysis, Joint stiffness, Localized osteoporosis, Limitation of joint mobility |
ORPHA:66627 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... |
ORPHA:83451 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:600649 |
| Cranioectodermal Dysplasia |
|
Osteoporosis, Craniosynostosis, Joint hyperflexibility |
ORPHA:1515 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Osteoporosis, Limitation of joint mobility, Osteoarthritis |
ORPHA:93351 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... |
OMIM:278000 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Ele... |
OMIM:619386 |
| Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Joint contracture of the hand, Joint stiffness, Osteoporosis, Osteoarthr... |
OMIM:208230 |
| Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Macroglossia, Hepatic steatosis, Diabetes mellit... |
ORPHA:528 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Increased susceptibility to fractures, Recurrent fractures |
OMIM:615066 |
| Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
| Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Increased hepatic e... |
OMIM:261680 |
| Familial Isolated Hyperparathyroidism |
|
Generalized osteoporosis, Osteopenia |
ORPHA:99879 |
| Hyperparathyroidism 4 |
|
Osteopenia |
OMIM:617343 |
| Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
| Indolent Systemic Mastocytosis |
|
Osteoporosis |
ORPHA:98848 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly |
OMIM:201450 |
| Osteogenesis Imperfecta, Type Xxi |
|
Osteoporosis, Recurrent fractures, Joint hypermobility |
OMIM:619131 |
| Osteogenesis Imperfecta, Type Xvii |
|
Osteoporosis |
OMIM:616507 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Osteopenia, Reduced bone minera... |
ORPHA:85435 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Elbow flexion contr... |
OMIM:214150 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Myopathy,... |
ORPHA:79086 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Elevated hepatic transaminase, Ketotic hypoglycemia |
ORPHA:2089 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Osteoporosis, Recurrent fractures, Flexion contracture of toe |
ORPHA:3409 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized osteoporosis |
OMIM:617952 |
| Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density |
OMIM:619489 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteoporosis, Osteopenia |
OMIM:615830 |
| Wilson Disease |
|
Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, A... |
ORPHA:905 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis |
ORPHA:77296 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Proximal amyotrophy |
OMIM:604484 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:255120 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure |
OMIM:231530 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Impotence, Elevated hepatic transaminase, Hepatocellular carcinoma, Azoospermia, Testi... |
OMIM:235200 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Osteoporosis |
OMIM:560000 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis |
OMIM:615954 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Giant cell hepatitis... |
ORPHA:79303 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabete... |
ORPHA:2298 |
| Duchenne And Becker Muscular Dystrophy |
|
Joint stiffness, Reduced bone mineral density |
ORPHA:262 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi... |
OMIM:614856 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Arthritis, Osteolysis involving bones of the upper limbs, ... |
ORPHA:371428 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Ddost-Cdg |
|
Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:300536 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
| Rhyns Syndrome |
|
Osteoporosis, Osteopenia |
OMIM:602152 |
| Menkes Disease |
|
Osteoporosis, Joint laxity |
OMIM:309400 |
| Adrenomyodystrophy |
|
Hepatic steatosis |
ORPHA:977 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteomalacia, Rickets, Joint hyperflexibility, Osteopenia, Joint stiffness, Osteoporosis |
ORPHA:1901 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Spondylo-Ocular Syndrome |
|
Joint hyperflexibility, Osteoporosis |
ORPHA:85194 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Insulin resistance, Insulin-resistant diabete... |
ORPHA:2457 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatosplenomegaly |
OMIM:619013 |
| Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, Arthritis, Limitation of joint mobility, Osteope... |
OMIM:259100 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Hyperinsulinemia, Flexion contracture, Centrally ... |
OMIM:613327 |
| Coxoauricular Syndrome |
|
Reduced bone mineral density |
ORPHA:1508 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance |
ORPHA:73272 |
| Amish Lethal Microcephaly |
|
Osteoporosis, Decreased skull ossification, Limitation of joint mobility |
ORPHA:99742 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re... |
OMIM:212140 |
| Osteogenesis Imperfecta, Type Xxii |
|
Thin bony cortex, Multiple prenatal fractures, Recurrent fractures, Reduced bone mineral density |
OMIM:619795 |
| Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis |
OMIM:266510 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteoporosis, Osteopenia |
OMIM:219080 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteoporosis, Osteopenia |
OMIM:610475 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:435651 |
| Geroderma Osteodysplastica |
|
Joint hyperflexibility, Abnormal bone ossification, Recurrent fractures, Osteoporosis |
ORPHA:2078 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Cholestasis, Port... |
OMIM:614300 |
| Short Syndrome |
|
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Classic Galactosemia |
|
Osteoporosis, Reduced bone mineral density |
ORPHA:79239 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteoporosis, Joint hypermobility, Osteopenia, Bicoronal synostosis |
OMIM:619718 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis |
ORPHA:199354 |
| Odontochondrodysplasia 1 |
|
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility |
OMIM:184260 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Hepatic lobular inflammation, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:101330 |
| Estrogen Resistance Syndrome |
|
Osteoporosis, Osteopenia, Delayed epiphyseal ossification |
ORPHA:785 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatic steatosis, Hepatocellular necrosis, Periportal fibrosis, Hepatomegaly |
OMIM:201475 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:369840 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Generalized osteoporosis, Osteoporosis, Limitation of joint mobility |
OMIM:236200 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus |
ORPHA:231736 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Postprandial hyperglycemia, Increased intramyocellular lipid dr... |
ORPHA:681 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Ankylosis, Osteopenia, Osteoporosis |
OMIM:239000 |
| Perrault Syndrome 4 |
|
Osteoporosis |
OMIM:615300 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:228305 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:370 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function, Hepatomegaly |
ORPHA:42 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Generalized joint laxity, Joint hypermobility, Osteoporosis, Osteopenia, Cervical C2/C3 vertebral... |
OMIM:618000 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:600081 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
| Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
| Osteogenesis Imperfecta, Type Iii |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Severe generalized osteoporosis, ... |
OMIM:259420 |
| Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join... |
OMIM:231070 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Hypophospha... |
OMIM:300554 |
| Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Osteoporosis |
OMIM:616200 |
| Niemann-Pick Disease, Type A |
|
Osteoporosis |
OMIM:257200 |
| Cantu Syndrome |
|
Osteoporosis |
OMIM:239850 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Hip contracture, Joint contracture of the hand, Shoulder flexion contr... |
OMIM:255800 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Hip contracture, Metatarsal osteolysis, Camptodactyl... |
OMIM:259600 |
| Chylomicron Retention Disease |
|
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase |
ORPHA:71 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Subcutaneous ossification |
OMIM:103580 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
| Sickle Cell Anemia |
|
Osteomyelitis, Osteoporosis |
ORPHA:232 |
| Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Elevated hepat... |
ORPHA:2137 |
| Interstitial Lung And Liver Disease |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic... |
OMIM:615486 |
| Desbuquois Dysplasia 1 |
|
Advanced ossification of carpal bones, Joint laxity, Advanced tarsal ossification, Osteoporosis, ... |
OMIM:251450 |
| 3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:610198 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci... |
OMIM:605814 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... |
ORPHA:93284 |
| Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Skeletal muscle atro... |
OMIM:246200 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Osteoporosis |
OMIM:615851 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:616433 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Optic atrophy, Neurogenic bladder, Hydroureter, Testicular at... |
OMIM:222300 |
| Richards-Rundle Syndrome |
|
Joint stiffness, Reduced bone mineral density |
ORPHA:1399 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Insulin resistance, Proximal upper limb muscle hypertrophy, Hepatic steatosis, Diab... |
ORPHA:280365 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Erectile dy... |
ORPHA:465508 |
| Xp21 Deletion Syndrome |
|
Osteoporosis, Joint laxity, Reduced bone mineral density |
ORPHA:261476 |
| 19P13.3 Microduplication Syndrome |
|
Osteoporosis |
ORPHA:447980 |
| Aggressive Systemic Mastocytosis |
|
Osteolysis, Pathologic fracture, Osteoporosis |
ORPHA:98850 |
| Propionic Acidemia |
|
Osteoporosis |
OMIM:606054 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Decreased liver function, Hepatomegaly |
OMIM:614922 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteoporosis, Osteopenia |
OMIM:610489 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Werner Syndrome |
|
Osteoporosis, Reduced bone mineral density |
OMIM:277700 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Macroglossia, Postprandial... |
ORPHA:769 |
| Short Syndrome |
|
Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis |
OMIM:613987 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia |
ORPHA:230 |
| Beta-Thalassemia Intermedia |
|
Osteoporosis, Increased susceptibility to fractures, Osteopenia, Reduced bone mineral density |
ORPHA:231222 |
| Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis |
OMIM:612462 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteoporosis, Elbow flexion contracture, Flexion contracture, Osteopenia |
OMIM:614438 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... |
OMIM:256810 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteoporosis, Lambdoidal craniosynostosis, Osteopenia |
OMIM:615398 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets,... |
OMIM:241530 |
| Lowry-Maclean Syndrome |
|
Osteoporosis, Craniosynostosis, Osteopenia |
ORPHA:2409 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
| Immunodeficiency 47 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Elevate... |
OMIM:300972 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis, Hepatic steatosis, C... |
ORPHA:264580 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly |
OMIM:212138 |
| Diamond-Blackfan Anemia 7 |
|
Osteoporosis, Osteopenia |
OMIM:612562 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Laryngotracheomalacia, Abnormally ossified vertebrae, Osteoporosis, Reduc... |
ORPHA:94068 |
| Familial Multiple Lipomatosis |
|
Insulin resistance |
ORPHA:199276 |
| Silver-Russell Syndrome |
|
Decreased muscle mass, Insulin resistance, Recurrent hypoglycemia |
ORPHA:813 |
| Dpm1-Cdg |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly |
ORPHA:79322 |
| Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Limited elbow movement, Osteolysis, Rib osteolysis, Osteolytic defects of th... |
OMIM:614008 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase |
OMIM:611126 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Lower limb muscle weakness |
OMIM:619737 |
| Shashi-Pena Syndrome |
|
Osteoporosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
| Methylcobalamin Deficiency Type Cble |
|
Osteoporosis |
ORPHA:2169 |
| Whipple Disease |
|
Myositis, Insulin resistance, Splenomegaly, Hepatomegaly |
ORPHA:3452 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Osteoporosis, Osteomalacia |
ORPHA:309031 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Insulin resistance |
ORPHA:96168 |
| Pachydermoperiostosis |
|
Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Limitation of joint mobility, Osteol... |
ORPHA:2796 |
| Functioning Gonadotropic Adenoma |
|
Osteoporosis, Osteopenia |
ORPHA:91348 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase |
OMIM:615453 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Increased intramyocellular lipid droplets, Hepatic steatosis, Micr... |
ORPHA:98907 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteoporosis, Osteopenia |
ORPHA:2326 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormality of hand joint mobility, Joint contracture of the hand, Camptodactyly, Limitation of j... |
ORPHA:1159 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis |
ORPHA:52430 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification |
OMIM:226980 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Osteoporosis, Camptodactyly, Generalized joint laxity |
ORPHA:432 |
| Refractory Celiac Disease |
|
Osteoporosis |
ORPHA:398063 |
| Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina... |
OMIM:120200 |
| Macs Syndrome |
|
Osteoporosis, Joint laxity, Joint hypermobility |
OMIM:613075 |
| Nail-Patella Syndrome |
|
Knee flexion contracture, Flexion contracture, Arthritis, Elbow flexion contracture, Proximal fin... |
ORPHA:2614 |
| Dent Disease 1 |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... |
OMIM:300009 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Type II diabetes mellitus, Insulin resistance |
ORPHA:902 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Reduced bone mineral density, Recurrent fractures, Joint hypermobility |
OMIM:619115 |
| Craniofaciofrontodigital Syndrome |
|
Joint laxity, Osteopenia, Finger joint hypermobility, Osteoporosis |
ORPHA:363705 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis |
ORPHA:298 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Jaundice, Hepatic periportal necrosis, Hepatomegaly |
OMIM:231680 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Calcinosis |
ORPHA:90154 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic steatosis, Hep... |
ORPHA:247585 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Neu-Laxova Syndrome |
|
Flexion contracture, Osteomalacia, Rickets, Osteoporosis, Osteopenia, Arthrogryposis multiplex co... |
ORPHA:2671 |
| Cole-Carpenter Syndrome 1 |
|
Recurrent fractures, Coronal craniosynostosis, Osteopenia, Reduced bone mineral density, Orbital ... |
OMIM:112240 |
| Mastocytosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:98292 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:264700 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Metacarpal periosteal thickening, Calvarial osteosclerosis |
OMIM:617994 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis |
OMIM:210200 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:277440 |
| Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Diastasis recti, Hepatitis, Postprandial hyperglycemia, Cholestasis, Cholest... |
ORPHA:440713 |
| Brittle Cornea Syndrome |
|
Joint hyperflexibility, Increased susceptibility to fractures, Camptodactyly, Osteoporosis |
ORPHA:90354 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Recurrent fractures, Elbo... |
ORPHA:3206 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Osteoporosis |
OMIM:224230 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Recurrent fractures, Elbow flexion contracture, Radioulnar synostosis, Joint hypermobility, Gener... |
OMIM:245600 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Increased intramuscular fat, Acut... |
OMIM:151660 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
| X Small Rings |
|
Osteoporosis, Joint laxity, Reduced bone mineral density |
ORPHA:96201 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Portal fibrosis, Cholestasis, Prolonged neona... |
OMIM:619377 |
| Mucopolysaccharidosis, Type Ivb |
|
Osteoporosis, Joint stiffness, Joint laxity |
OMIM:253010 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Insulin resistance |
OMIM:616541 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Sparse bone trabeculae, Ri... |
ORPHA:289157 |
| Mucopolysaccharidosis, Type Iva |
|
Osteoporosis, Joint laxity |
OMIM:253000 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Generalized joint laxity, Elbow flexion contracture, Osteopenia, Joint hyperflexibility, Distal j... |
ORPHA:1900 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Insulin resistance |
ORPHA:90153 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Osteoporosis |
OMIM:613989 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Reduced bone mineral density |
ORPHA:157215 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Hepatic steatos... |
OMIM:619418 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Osteoporosis |
OMIM:219090 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... |
ORPHA:289176 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thin bony cortex, Recurrent fractures, Hyperextensibility of the finger joints, Osteoporosis |
OMIM:309583 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase |
ORPHA:99901 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:348 |
| Dysbetalipoproteinemia |
|
Hepatic steatosis, Acute pancreatitis, Hepatomegaly |
ORPHA:412 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Aplasia/Hypoplasia of the pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogen... |
ORPHA:456312 |
| Aromatase Deficiency |
|
Osteoporosis, Osteopenia, Delayed epiphyseal ossification |
ORPHA:91 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Increased susceptibility to fractures, Pathologic fracture, Osteopenia, Osteoporosis |
OMIM:612199 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucos... |
OMIM:608612 |
| Celiac Disease, Susceptibility To, 1 |
|
Rickets, Osteoporosis |
OMIM:212750 |
| Cleidocranial Dysplasia |
|
Decreased skull ossification, Osteoporosis, Recurrent fractures |
ORPHA:1452 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Osteoporosis |
OMIM:613990 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Generalized osteoporosis, Multiple joint contractures |
ORPHA:2959 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis |
OMIM:300998 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Left ventricular hypertrophy, Insulin resistance, Biliary tract abnormality, Di... |
OMIM:209900 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Acute pan... |
OMIM:619487 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Elevated hepatic transami... |
OMIM:617156 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteoporosis, Osteopenia |
ORPHA:398079 |
| Cantú Syndrome |
|
Osteoporosis |
ORPHA:1517 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Hepatic necrosis, Acute hepatic failure, Elevated hepatic transaminase |
ORPHA:71212 |
| Farber Disease |
|
Arthritis, Flexion contracture, Osteoporosis |
ORPHA:333 |
| Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Acute pancreatitis |
ORPHA:444490 |
| Alstrom Syndrome |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis |
OMIM:203800 |
| Glycogen Storage Disease Ia |
|
Gout, Osteoporosis |
OMIM:232200 |
| Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... |
OMIM:166220 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:445038 |
| Cerebrotendinous Xanthomatosis |
|
Osteoporosis |
OMIM:213700 |
| Premature Aging Syndrome, Penttinen Type |
|
Recurrent fractures, Flexion contracture of finger, Osteolytic defects of the distal phalanges of... |
OMIM:601812 |
| Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice |
OMIM:228100 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased susceptibility to fractures, Osteoporosis |
ORPHA:189427 |
| Leprechaunism |
|
Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Postprandial hyperglycemi... |
ORPHA:508 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Decreased muscle mass, Insulin resistance |
ORPHA:96182 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis |
ORPHA:391673 |
| Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
| Stuve-Wiedemann Syndrome 1 |
|
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Thickened cortex of long bone... |
OMIM:601559 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Recurrent fractures, Joint hypermobility, Osteopenia, Path... |
OMIM:259770 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:608836 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Osteoporosis |
ORPHA:79240 |
| Prolactinoma |
|
Osteoporosis, Osteopenia |
ORPHA:2965 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Diffuse hepatic steatosis, Hepatomegaly |
ORPHA:436271 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis |
OMIM:616672 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis |
ORPHA:254346 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteoporosis, Flexion contracture, Osteopenia |
ORPHA:398069 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Recurrent fractures, Radioulnar synostosis, Joint hypermobility, Ost... |
ORPHA:536467 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Bile duct proliferation, Elevated hepatic transaminase, Macrovesicular ... |
OMIM:618329 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Increased susceptibility to fractures, Osteoporosis |
ORPHA:98849 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Impaired glucose tolerance, Calcinosis, Elbow flexion cont... |
OMIM:248370 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased susceptibility to fractures, Osteoporosis |
ORPHA:189439 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Flexion contracture, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, ... |
OMIM:609069 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Osteoporosis |
OMIM:127550 |
| Glycogen Storage Disease Ib |
|
Gout, Osteoporosis |
OMIM:232220 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Exocrine pancreatic insuf... |
OMIM:616263 |
| D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Elevated hepatic transaminase, Hepatic steatosis, Bile d... |
OMIM:261515 |
| Neutral Lipid Storage Myopathy |
|
Very long chain fatty acid accumulation, Chronic pancreatitis, Elevated hepatic transaminase, Inc... |
ORPHA:98908 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteoporosis, Osteopenia |
ORPHA:98754 |
| Prader-Willi Syndrome |
|
Increased susceptibility to fractures, Osteopenia, Osteoporosis |
ORPHA:739 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
| Hajdu-Cheney Syndrome |
|
Recurrent fractures, Coarse metaphyseal trabecularization, Osteolysis, Joint hyperflexibility, De... |
ORPHA:955 |
| Wilson Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Jaundice... |
OMIM:277900 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteoporosis, Osteopenia |
ORPHA:98793 |
| Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Joint laxity, Osteopenia, P... |
OMIM:102500 |
| Classic Homocystinuria |
|
Osteoporosis, Joint stiffness, Recurrent fractures |
ORPHA:394 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteoporosis, Osteopenia |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteoporosis, Osteopenia |
ORPHA:177901 |
| Dominant Beta-Thalassemia |
|
Osteoporosis |
ORPHA:231226 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis, Osteopenia |
ORPHA:2232 |
| Glass Syndrome |
|
Generalized osteoporosis, Camptodactyly |
OMIM:612313 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Jaundice, Eleva... |
ORPHA:93111 |
| Frank-Ter Haar Syndrome |
|
Osteoporosis, Cortical irregularity, Camptodactyly, Osteopenia |
OMIM:249420 |
| Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
| Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Hip contracture, Increased bone mineral density, Joint stiffness, Shou... |
ORPHA:800 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the pancreas, Mater... |
ORPHA:358 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Cholestasis, Chronic hepatic failure |
ORPHA:746 |
| Primary Biliary Cholangitis |
|
Osteoporosis |
ORPHA:186 |
| Occipital Horn Syndrome |
|
Osteomalacia, Synostosis of joints, Rickets, Osteolysis, Osteopenia, Joint hyperflexibility, Oste... |
ORPHA:198 |
| Prader-Willi Syndrome |
|
Osteoporosis, Osteopenia |
OMIM:176270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Increased hepatocellular lipid droplets, Increased intramyocellular lip... |
OMIM:220110 |
| Prader-Willi-Like Syndrome |
|
Osteoporosis, Osteopenia |
ORPHA:398073 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic steatosis, Hepatic failure, Hepatic calcification, Hepatomegaly |
ORPHA:228308 |
| Tbck-Related Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:488632 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic steatosis, Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly |
OMIM:212065 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Dent Disease |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... |
ORPHA:1652 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Abnormality of masticatory muscle, Insulin resistance, Elevated hepatic transam... |
ORPHA:273 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis |
OMIM:616271 |
| Hepatoerythropoietic Porphyria |
|
Osteolysis, Osteopenia, Osteoporosis |
ORPHA:95159 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Left ventricular hypertrophy |
ORPHA:90065 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint laxity, Osteopenia, Osteoporosis |
OMIM:225400 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu... |
