Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus |
OMIM:167755 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hypoinsu... |
ORPHA:552 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Short stature, Steatorrhea |
OMIM:618752 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, ... |
OMIM:260370 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Small for gestational age, Steatorrhea |
OMIM:615935 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... |
OMIM:167800 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea |
ORPHA:309108 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Growth delay, Increased feca... |
OMIM:613291 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... |
ORPHA:99886 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Splenomegaly, Ja... |
OMIM:612714 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... |
ORPHA:95427 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Diarr... |
OMIM:615710 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Short stature, Hepatosplenomegaly, Hypothyroidism, Type I diab... |
OMIM:615952 |
Cystic Fibrosis |
|
Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis |
ORPHA:586 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Steatorrhea, Adrenal calcification, Splenomegaly, Cachexia, ... |
ORPHA:75233 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Steatorrhea, Cirrhosis, Diarrhea,... |
OMIM:602579 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... |
ORPHA:171706 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... |
OMIM:601410 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic... |
ORPHA:1333 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Abnormality of the hallux, Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Joint contrac... |
ORPHA:456312 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Vomiting, Hypoglycemia, Delayed puberty, Growth delay, Decr... |
ORPHA:314811 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Splenomegaly, Abnormal form of the vertebral bodies, Abnormality... |
ORPHA:1802 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Johanson-Blizzard Syndrome |
|
Anal atresia, Exocrine pancreatic insufficiency, Malabsorption, Failure to thrive, Short stature,... |
ORPHA:2315 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Steatorrh... |
OMIM:269200 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Diar... |
OMIM:607765 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomiting, ... |
OMIM:615237 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Exocrine pancreatic insufficiency, Hypohidrosis, Cryptorchidism, Aganglionic megac... |
ORPHA:452 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Diarrhea, Hepatitis, Intra... |
OMIM:613812 |
Shwachman-Diamond Syndrome 2 |
|
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Sho... |
OMIM:617941 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Growth delay |
OMIM:246700 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Increased hepatocellular... |
ORPHA:71 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Osteoporosis, Congenital hepatic fibrosis, Elevated... |
ORPHA:79230 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... |
ORPHA:92050 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Short stature, Short neck, Scoliosis, Osteoporosis, Joint laxity, ... |
OMIM:616033 |
Isolated Glycerol Kinase Deficiency |
|
Short stature, Scoliosis, Osteoporosis, Hyperlordosis, Adrenocortical hypoplasia, Cryptorchidism |
ORPHA:408 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Hepatomegaly, Short stature, Increased hepatic glycogen content, Osteopenia, Cirrho... |
ORPHA:369 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... |
OMIM:246200 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Adrena... |
OMIM:278000 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, High palate, Precocious puberty, Hyperinsulinemia, Small for gestatio... |
OMIM:262190 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Short stature, Pancreatic fibrosis, Hypothyroidism,... |
OMIM:616263 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Splenomegaly, Diarrhea, Intrahepatic cholestasis, J... |
OMIM:235555 |
Mahvash Disease |
|
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... |
OMIM:619290 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Short stature, Hypothyroi... |
ORPHA:1667 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis |
OMIM:618234 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Scleroti... |
ORPHA:2790 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Somatostatinoma |
|
Medullary thyroid carcinoma, Hepatomegaly, Constipation, Steatorrhea, Adrenocortical adenoma, Dia... |
ORPHA:97283 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormality of limb bo... |
ORPHA:2204 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Steatorrhea,... |
ORPHA:79303 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Fat malabsorption, Steatorrhea |
OMIM:607748 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Kyphoscoliosis, Metaphyseal dysplasia, Hepatomegaly, Short stature, Elevated circulating aspartat... |
OMIM:614727 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Short stature, Severe postnat... |
ORPHA:440713 |
Shwachman-Diamond Syndrome 1 |
|
Coxa vara, Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal chondrodysplasia, Steator... |
OMIM:260400 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... |
OMIM:618160 |
Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Steatorrhea, S... |
OMIM:557000 |
Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Coarse metaphyseal trabecularization, ... |
ORPHA:2635 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Ataxia, Dysmetria, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finge... |
ORPHA:48431 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Rauch-Steindl Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Short stature, Postnatal grow... |
OMIM:619695 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... |
ORPHA:564003 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Gout, Osteoporosis, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep... |
OMIM:619418 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Short stature, Episodic vomiting, Osteoporosis, Pathologic fracture, Hypog... |
OMIM:307030 |
Perrault Syndrome 1 |
|
High palate, Ataxia, Talipes equinovarus, Short stature, Scoliosis, Osteoporosis, Gait ataxia, In... |
OMIM:233400 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Kyphosis, Scoliosis, Osteoporosis |
OMIM:617190 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Excessive insu... |
ORPHA:276556 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... |
ORPHA:453533 |
Pancreatic insufficiency, combined exocrine |
|
Anal atresia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Maternal diabetes, Hy... |
OMIM:604367 |
Glucagonoma |
|
Hepatomegaly, Constipation, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating ... |
ORPHA:97280 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Short stature,... |
ORPHA:2410 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
High palate, Irregular tarsal ossification, Irregular vertebral endplates, Ivory epiphyses of the... |
OMIM:226980 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Colitis, Steatorrhea, Diarrhea, Growth delay, Weight loss |
ORPHA:309031 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia, Abnormal intestine morphology |
OMIM:606528 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Intestinal malrotation, Bilateral cleft lip and palate, Pancreatic islet-cell hyperplasia, Large ... |
OMIM:601165 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... |
ORPHA:324575 |
Shwachman-Diamond Syndrome |
|
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Osteomyelitis, Hepatomegaly, Decreas... |
ORPHA:811 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Steatorrhea, Diarrhea, Abnormality of the gastrointestinal tract, Vomiting, Hemato... |
ORPHA:2070 |
Bile Acid Malabsorption, Primary, 2 |
|
Steatorrhea, Periportal fibrosis, Chronic diarrhea, Prolonged neonatal jaundice |
OMIM:619481 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized os... |
OMIM:277950 |
Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Metaphyseal dysplasia, Reduced bone mineral density, Short sta... |
OMIM:617052 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, El... |
ORPHA:79301 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly |
OMIM:264010 |
Deeah Syndrome |
|
High palate, Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Decreased response t... |
OMIM:619004 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Joint stiffness, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum testostero... |
ORPHA:465508 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Foot acroosteolysis, Tapered finger, Hyperlordosis, Osteolysis, Abn... |
ORPHA:970 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... |
ORPHA:79084 |
Chondroectodermal Dysplasia With Night Blindness |
|
Metaphyseal irregularity, Metaphyseal dysplasia, Short stature, Osteopenia, Fractures of the long... |
ORPHA:319195 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis |
OMIM:615269 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Glucose intolerance, Malabsorption, Exocrine pancreatic insufficiency, Failure to thrive, Cirrhos... |
OMIM:616539 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature |
OMIM:608278 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Steatorrhea, Short stature, Diarrhea, Vomiting, Stomatitis, Type I diabetes me... |
OMIM:212750 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Short stature, R... |
OMIM:617974 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Craniosynostosis, Camptodactyly of toe, Broad hallux phalanx, Prea... |
OMIM:175700 |
Classic Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Reduced bone mineral density, Hepatic failure, Diarrhea, Os... |
ORPHA:79239 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Median cleft lip and pa... |
ORPHA:699 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism |
OMIM:616113 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis |
OMIM:608805 |
Cystic Fibrosis |
|
Ileus, Exocrine pancreatic insufficiency, Failure to thrive, Pancreatitis, Hepatomegaly, Steatorr... |
OMIM:219700 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Immunodeficiency 12 |
|
Growth delay, Osteoporosis |
OMIM:615468 |
Sialidosis Type 2 |
|
Kyphosis, Ataxia, Hepatomegaly, Flexion contracture, Splenomegaly, Short stature, Osteoporosis |
ORPHA:87876 |
Infantile Systemic Hyalinosis |
|
Failure to thrive, Malabsorption, Severe short stature, Steatorrhea, Abnormality of the adrenal g... |
ORPHA:2176 |
Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis, Splenomegaly, Calvarial hyperostosis, Thin bony cortex, Ma... |
OMIM:176920 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Ck Syndrome |
|
High palate, Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility, ... |
OMIM:300831 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Os... |
ORPHA:2088 |
Flynn-Aird Syndrome |
|
Joint stiffness, Ataxia, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased ... |
OMIM:136300 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Hepatomegaly, Flexion contracture, Scoliosis, Osteoporosis, Elevated hepatic transamina... |
OMIM:615381 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... |
ORPHA:3152 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Short stature |
ORPHA:2786 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... |
ORPHA:2298 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short neck, Brachydactyly, Osteoporosis, Pseudohypoparathyroidism, Short metatarsa... |
OMIM:612463 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Bilateral talipes equinovarus, Finger clinodactyly, Osteoporosis, Cryptorchidism, Coxa valga |
ORPHA:2958 |
Prieto Syndrome |
|
Talipes equinovarus, Osteoporosis, Clinodactyly, Radial deviation of finger, Cryptorchidism, Coxa... |
OMIM:309610 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis |
ORPHA:3294 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retar... |
OMIM:606176 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... |
OMIM:300972 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Joint stiffness, Growth delay, Hyperinsulinemia, Hepatomegaly, Short distal phalanx ... |
OMIM:248370 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Flexion contracture, Hyperglycemia |
OMIM:618856 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypot... |
ORPHA:93111 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... |
ORPHA:249 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Short stature, Scoliosis, Osteoporosis, Generalized osteoporosis |
OMIM:613849 |
Orofaciodigital Syndrome Type 1 |
|
High palate, Exocrine pancreatic insufficiency, Ataxia, Cleft palate, Abnormality of the pancreas... |
ORPHA:2750 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Short stature, Thin bony cortex, Decreased cir... |
OMIM:619795 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of femur morphology, Abnormality of the thyroid gland, Severe short stature... |
ORPHA:3344 |
Forsythe-Wakeling Syndrome |
|
Growth delay, Osteoporosis, Short stature |
OMIM:613606 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational age, Biliary atresia,... |
ORPHA:2255 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... |
ORPHA:53697 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Pigmented m... |
OMIM:610475 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... |
ORPHA:2089 |
Familial Hyperprolactinemia |
|
Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Osteoporosis |
ORPHA:397685 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Kyphoscoliosis, Short stature, Osteoporosis, Joint hypermobility, Cryptorchidism |
OMIM:600118 |
Progressive Pseudorheumatoid Dysplasia |
|
Joint stiffness, Kyphoscoliosis, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... |
OMIM:208230 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Ataxia, Beaking of vertebral bodies, Hepatomegaly, Hypoplastic vertebral bodies,... |
OMIM:230600 |
Mu-Heavy Chain Disease |
|
Osteolysis, Hepatomegaly, Osteoporosis, Splenomegaly |
ORPHA:100024 |
Bruck Syndrome 1 |
|
Hip contracture, Kyphosis, Coxa vara, Talipes equinovarus, Short stature, Platyspondyly, Scoliosi... |
OMIM:259450 |
Pseudoachondroplasia |
|
Irregular carpal bones, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Genu valgum, ... |
ORPHA:750 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Scoliosis, Osteopo... |
OMIM:234250 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Joint hyperflexibility, Osteoporosis |
ORPHA:2787 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... |
ORPHA:3409 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Short neck, Platyspondyly, Monkey wrenc... |
OMIM:251450 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Disproportionate short-limb short stature, Short metacarpal, Osteoarthritis, Platyspon... |
ORPHA:93351 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Osteoporosis |
OMIM:256720 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Craniosynostosis, Severe postnatal growth retardation, Small h... |
OMIM:620005 |
Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Short neck, Platyspondyly, Micromelia, Anterior bowing of long bones, Bowing of the ... |
OMIM:255800 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Disproporti... |
ORPHA:93284 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Genu valgum, Generalized osteoporosis, Vertebral wedging, Flat capital femoral epi... |
ORPHA:1159 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Kyphoscoliosis, Joint contracture of the hand, Flexion contracture, Rocker bottom foot, Osteoporo... |
OMIM:214150 |
Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Glucose intolerance, Hyperinsulinemia, Osteopenia, Absence of pu... |
ORPHA:785 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Osteoporosis, Decreased testicula... |
OMIM:610628 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Pointed proximal second through fifth metacarpals, Hepatomegaly, Metaphyseal widening, ... |
OMIM:253000 |
Renal Cysts And Diabetes Syndrome |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Gly... |
OMIM:137920 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Hepatomegaly, Diarrhea, Osteoporosis, Vomiting, Type I diabetes mellitus, Rickets |
OMIM:560000 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Abnormal bone ossification, Short toe,... |
ORPHA:79106 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Constipation, Abnormality of th... |
ORPHA:2126 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea |
ORPHA:3217 |
Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
Propionic Acidemia |
|
Hepatomegaly, Pancreatitis, Constipation, Short stature, Osteoporosis, Vomiting, Hypoglycemia, Le... |
OMIM:606054 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Ataxia, Gastroesophageal reflux, Osteoporosis |
OMIM:619971 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Lumbar hyperlordosis, Hepatomegaly, Co... |
OMIM:602557 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Vomiting... |
ORPHA:103918 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Premature thelarche... |
ORPHA:371428 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Short stature, Elevated circulating parathyroid hormone level, Short neck, Brachydacty... |
OMIM:103580 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Steatorrhea |
OMIM:617308 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... |
OMIM:271630 |
Cystinosis, Nephropathic |
|
Growth delay, Hypophosphatemic rickets, Exocrine pancreatic insufficiency, Hepatomegaly, Splenome... |
OMIM:219800 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Short stature, Arachnodac... |
OMIM:614856 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Kyphoscoliosis, Pancreatitis, Arachnodactyly, Biconcave vertebral bodies, Osteoporos... |
OMIM:236200 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Overlapping toe, Exocrine pancreatic insufficiency, Thoracic scoliosis, Broad phalanx, Clinodacty... |
ORPHA:508498 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting,... |
OMIM:212065 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Osteoporosis, Male hypogonadism, Short stature |
OMIM:618625 |
Hyaline Fibromatosis Syndrome |
|
Flexion contracture, Osteopenia, Diarrhea, Osteoporosis, Osteolysis, Progressive flexion contract... |
OMIM:228600 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Hyperlordosis, Gait d... |
ORPHA:2501 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Broad-based gait, Thoracic scoliosis, Decr... |
ORPHA:2959 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Primary hype... |
OMIM:615830 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating parathyroid hormone level, Short neck, Brachydactyly, Osteopo... |
OMIM:612462 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal os... |
OMIM:264700 |
Hemochromatosis, Type 1 |
|
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadis... |
OMIM:235200 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Hump-shaped mound of bone in central and posterior portions of vertebral endplat... |
ORPHA:99642 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Glucose intolerance, Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal... |
OMIM:608612 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Severe short stature, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormal... |
ORPHA:2619 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, High palate, Decreased body weight, Hepatomegaly, Gastroesophageal reflux, Macrog... |
OMIM:618268 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Ataxia, Hyperglycemia |
OMIM:618970 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, D... |
ORPHA:94068 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Abnormal metaphysis morphology, Short stature, Osteomalacia, Scol... |
ORPHA:93160 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Pointed proximal second through fifth metacarpals, Hepatomegaly, Metaphyseal widening, ... |
OMIM:253010 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
High palate, Decreased body weight, Small for gestational age, Short stature, Hypoglycemia, Neona... |
ORPHA:231140 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... |
ORPHA:1227 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral neck, Hypoplasia of t... |
OMIM:617719 |
Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Short stature, Severe pos... |
ORPHA:73272 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... |
OMIM:601847 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Microvesicular hepatic steatosis, Steatorrhea, Adrenal calcification, Cachexia... |
ORPHA:275761 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... |
OMIM:609052 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Decreased liver function, Hepatomegaly... |
ORPHA:231222 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Short stature, Upper limb undergrowth, Pathologic fracture, Short foot, Abnorma... |
ORPHA:166277 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Abnormal femoral neck/head morphology, Short stature, Osteopenia, Metaphyseal... |
ORPHA:2788 |
Pachydermoperiostosis |
|
Malabsorption, Osteomyelitis, Hepatomegaly, Elevated circulating growth hormone concentration, Sp... |
ORPHA:2796 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Vomiting, Hypoglycemia, Primary adrenal insufficiency, Hypogonad... |
OMIM:617872 |
Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Scoliosis, Osteoporosis, Vomiting, Syndactyly, Clinodactyly, Postnatal ... |
ORPHA:2169 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Sparse bone trabeculae, Subperios... |
ORPHA:289157 |
Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal os... |
OMIM:277440 |
Niemann-Pick Disease, Type A |
|
Inability to walk, Hepatomegaly, Constipation, Splenomegaly, Short stature, Elevated circulating ... |
OMIM:257200 |
Stüve-Wiedemann Syndrome |
|
Flexion contracture of finger, Osteopenia, Micromelia, Genu valgum, Bowing of the long bones, Abn... |
ORPHA:3206 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Short stature, Reduced bone mineral density, Osteopenia, Arachnodacty... |
OMIM:619489 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
Greenberg Dysplasia |
|
Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calcifications, Abn... |
ORPHA:1426 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... |
OMIM:184260 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Small for gestational age, Peritonitis, Diarrhea, Vomiting, Abnormal glucose hom... |
ORPHA:391673 |
Tenorio Syndrome |
|
Hypoinsulinemia, Gastroesophageal reflux, Macroglossia, Osteopenia, Scoliosis, Hypoglycemia, Gait... |
OMIM:616260 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Hypertriglyceridem... |
OMIM:151660 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Intrauterine growth retardation, Hyperglycemia |
OMIM:619737 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Cone-shaped epiphyses of the distal phalanges of the hand, Short neck, Platyspondyl... |
OMIM:618958 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Pr... |
OMIM:219080 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Polycy... |
ORPHA:79240 |
Post-Traumatic Pituitary Deficiency |
|
Growth delay, Abnormal prolactin level, Decreased response to growth hormone stimulation test, Os... |
ORPHA:95619 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Hyperinsulinemia, Hepatomegaly, Spinal rigidity, Flexion contracture, Splenomegaly, Consti... |
OMIM:613327 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short stature, Short neck, Abnormal form of the vertebral bodies, Abnormal c... |
ORPHA:1486 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hyperextensibility of t... |
OMIM:313420 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce... |
ORPHA:2235 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Short stature, Platyspondyly... |
ORPHA:2771 |
Metatropic Dysplasia |
|
Platyspondyly, Disproportionate short-trunk short stature, Hyperplasia of the femoral trochanters... |
OMIM:156530 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Polycystic ovaries, Diarrhea,... |
ORPHA:264580 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglyc... |
OMIM:613027 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Glycogen Storage Disease Ia |
|
Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Osteoporosis, Gout, Hypoglyc... |
OMIM:232200 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Short stature, Pancreatic fibrosis, Hepatocellular carc... |
OMIM:232220 |
Grant Syndrome |
|
Short stature, Decreased skull ossification, Bowing of the long bones, Abnormal cortical bone mor... |
ORPHA:2097 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... |
ORPHA:73 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diarrhea, Vomiting, Hypothyroidis... |
ORPHA:79319 |
19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Precocious puberty, Constipation, Gastroesophageal reflux, Cleft palate, Unilater... |
ORPHA:447980 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Short stature, Platyspondyly, Disproportionate short-trunk short stature, Abnormal vertebral morp... |
ORPHA:163665 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Small pituitary gland, Small hand, Osteopenia, Hyp... |
ORPHA:398079 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis, Short stature |
ORPHA:71267 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, S... |
OMIM:610967 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Wide anterior fontanel, Hepatic failure, Short stature, Elevated hepatic transami... |
OMIM:614886 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Flared metaphysis, Platyspondyly, Short middle phalanx of t... |
OMIM:156510 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Short stature, Platy... |
OMIM:604864 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... |
ORPHA:116 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Generalized bone demineralization, Premature osteoarthritis, Metaphyse... |
ORPHA:93352 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Diarrhea... |
OMIM:211600 |
Abetalipoproteinemia |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Cirrhosis, Vomiting, Hypothyroidism, Hypocholestero... |
ORPHA:14 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Precocious puberty, Decreas... |
ORPHA:98754 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Glucose intolerance, ... |
ORPHA:189439 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... |
ORPHA:93314 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, High palate, Precocious puberty, ... |
ORPHA:769 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Exocrine pancreatic insufficiency, Gastritis, Meconium ileus, Diarrhea, Biliary tract obstruction... |
OMIM:219721 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Severe short stature, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, ... |
OMIM:126550 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Severe short statur... |
ORPHA:2078 |
Pituitary Adenoma 4, Acth-Secreting |
|
Glucose intolerance, Pituitary adenoma, Kyphosis, Increased circulating ACTH level, Biconcave ver... |
OMIM:219090 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Precocious puberty, Decreas... |
ORPHA:98793 |
Atelosteogenesis Type I |
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Malrotation of colon, Talipes equinovarus, Cleft palate, Abnormal ossification involving the femo... |
ORPHA:1190 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Vomiting, Hypothyroidism, Nausea, Hypercholesterolemia, Hypopituitarism, Hyperglycemia |
ORPHA:90065 |
Disorder Of Bile Acid Synthesis |
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Abnormality of the liver, Fat malabsorption, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Magel2-Related Prader-Willi-Like Syndrome |
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Osteopenia, Hypogonadism, Precocious puberty, Flexion contracture, Small pituitary gland, Scolios... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Precocious puberty, Decreas... |
ORPHA:177904 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Metaphyseal irregularity, Disproportionate short-limb short statur... |
ORPHA:174 |
Hypobetalipoproteinemia, Familial, 1 |
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Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea |
OMIM:615558 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Precocious puberty, Decreas... |
ORPHA:177901 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
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Cleft palate, Hypogonadotropic hypogonadism, Osteoporosis, Clinodactyly, Decreased testicular size |
OMIM:614838 |
Johanson-Blizzard Syndrome |
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Anal atresia, Exocrine pancreatic insufficiency, Malabsorption, Failure to thrive, Small for gest... |
OMIM:243800 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
Perlman Syndrome |
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Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Cryptorchidism |
ORPHA:2849 |
Caffey Disease |
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Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... |
ORPHA:1310 |
Spondylo-Ocular Syndrome |
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Short stature, Platyspondyly, Short neck, Osteoporosis, Disproportionate short-trunk short statur... |
ORPHA:85194 |
Short Syndrome |
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Glucose intolerance, Birth length less than 3rd percentile, Joint laxity, Insulin-resistant diabe... |
OMIM:269880 |
Cantu Syndrome |
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Broad first metatarsal, Metaphyseal widening, Platyspondyly, Short neck, Osteoporosis, Short hall... |
OMIM:239850 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
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Severe short stature, Osteoporosis |
OMIM:204730 |
Amish Lethal Microcephaly |
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Hepatomegaly, Osteoporosis, Decreased skull ossification, Limitation of joint mobility, Cleft sof... |
ORPHA:99742 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Clinodactyly of the 5th finger, Short stature, Reduced bone mineral density, Scoliosis, Abnormal ... |
ORPHA:2370 |
Liver Disease, Severe Congenital |
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Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... |
OMIM:619991 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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High palate, Irregular vertebral endplates, Kyphoscoliosis, Dislocated radial head, Flat capital ... |
OMIM:612350 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Thin bony cortex, C1-C2 subluxation, Thin metacarpal cortices, Osteolysis involving t... |
OMIM:259600 |
Familial Expansile Osteolysis |
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Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture |
OMIM:174810 |
Morgagni-Stewart-Morel Syndrome |
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Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis, Osteoporos... |
ORPHA:77296 |
Prader-Willi Syndrome |
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Central adrenal insufficiency, Osteopenia, Vomiting, Decreased inhibin B level, Hypogonadism, Pre... |
ORPHA:739 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Adrenal insufficiency, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocell... |
ORPHA:231226 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Broad thumb, Shor... |
OMIM:619638 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Biconcave vertebral bodies, Genu valgum, Intervertebral space narrowing, Thoracic platyspondyly, ... |
ORPHA:166011 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Glucose intolerance, ... |
ORPHA:189427 |
Progressive Familial Intrahepatic Cholestasis |
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Malabsorption, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Short stature, Cholestas... |
ORPHA:172 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Autosomal Recessive Primary Microcephaly |
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Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
Alagille Syndrome 1 |
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Short distal phalanx of finger, Exocrine pancreatic insufficiency, Hepatic failure, Cirrhosis, He... |
OMIM:118450 |
Pancreas, Annular |
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Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Spondylometaphyseal Dysplasia, Axial |
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Coxa vara, Splenomegaly, Short stature, Platyspondyly, Scoliosis, Short femoral neck, Disproporti... |
OMIM:602271 |
Annular Pancreas |
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Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
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Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck, Coxa valga |
OMIM:616583 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
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Kyphoscoliosis, Back pain, Pseudobulbar paralysis, Gait disturbance, Cervical spondylosis, Locali... |
ORPHA:199354 |
Cranioectodermal Dysplasia |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, Craniosynostosis, Brachydactyly, ... |
ORPHA:1515 |
Functioning Gonadotropic Adenoma |
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Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... |
ORPHA:91348 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Coxa vara, Severe short stature, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irreg... |
OMIM:618728 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
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Short stature, Decreased serum insulin-like growth factor 1, Delayed puberty, Postnatal growth re... |
OMIM:618985 |
Obesity Due To Congenital Leptin Deficiency |
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Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Prader-Willi-Like Syndrome |
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Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Abnormality of the endocrin... |
ORPHA:398073 |
Dyssegmental Dysplasia With Glaucoma |
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Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Cleft palate, Short sta... |
OMIM:601561 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
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2-3 toe cutaneous syndactyly, Ataxia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Cr... |
OMIM:300998 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Mycetoma |
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Osteomyelitis, Bone cyst, Back pain, Osteoporosis, Abnormal form of the vertebral bodies, Patholo... |
ORPHA:2583 |
Osteogenesis Imperfecta, Type Xxi |
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Recurrent fractures, Disproportionate short-limb short stature, Coxa vara, Bowing of the legs, Pl... |
OMIM:619131 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Geroderma Osteodysplasticum |
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Irregular vertebral endplates, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, ... |
OMIM:231070 |
Melnick-Needles Syndrome |
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Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short stature... |
ORPHA:2484 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Broad-based gait, Recurrent fractures, Kyphoscoliosis, Long hallux, Talipes equinovarus, High, na... |
OMIM:309583 |
Indolent Systemic Mastocytosis |
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Hepatomegaly, Osteoporosis, Splenomegaly |
ORPHA:98848 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
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Osteopenia, Osteoporosis, Delayed puberty, Hypogonadism |
OMIM:615270 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
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Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Cranio-Osteoarthropathy |
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Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... |
ORPHA:1525 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Kyphosis, Lumbar hyperlordosis, Decreased serum testosterone concentration, Cryptorchidism, Small... |
ORPHA:2232 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Vertebral segmentation defect, Kyphosis, Severe short stature, Reduced bone mineral density, Scol... |
ORPHA:2617 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Adrenal insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomeg... |
ORPHA:231214 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Idiopathic Juvenile Osteoporosis |
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Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture |
ORPHA:85193 |
Beta-Ketothiolase Deficiency |
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Hepatomegaly, Diarrhea, Vomiting, Hypoglycemia, Weight loss, Hyperglycemia |
ORPHA:134 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
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Osteopenia, Absence of pubertal development, Osteoporosis, Hypogonadism |
OMIM:615267 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Kyphosis, Short toe, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropi... |
ORPHA:3085 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Fat malabsorptio... |
OMIM:214950 |
Mccune-Albright Syndrome |
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Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Chole... |
ORPHA:562 |
Bardet-Biedl Syndrome 9 |
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Obesity, Truncal obesity, Hyperglycemia |
OMIM:615986 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Joint stiffness, Coxa vara, Hiatus hernia, Severe short stature, Gastroesophageal reflux, Osteope... |
ORPHA:1901 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth... |
ORPHA:85198 |
Hypoglycemia, Leucine-Induced |
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Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Platyspondyly, Apla... |
ORPHA:1856 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly, Broad femoral nec... |
ORPHA:157965 |
Atypical Werner Syndrome |
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Hyperinsulinemia, Ovarian neoplasm, Glycosuria, Finger clinodactyly, Osteolytic defects of the ph... |
ORPHA:79474 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly, Intestinal lymphangiectasia, Growth delay |
OMIM:616006 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Cervical C2/C3 vertebral fusion, High palate, Thoracic scoliosis, Generalized joint laxity, Osteo... |
OMIM:618000 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
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High palate, Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Talipes equinov... |
ORPHA:93359 |
Aicardi-Goutieres Syndrome 9 |
|
Intrauterine growth retardation, Hepatomegaly, Hepatosplenomegaly, Scoliosis, Osteoporosis, Hypot... |
OMIM:619487 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... |
OMIM:601376 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Broad-based gait, Overlapping toe, Constipation, Gastroesophageal reflux, Reduced bone mineral de... |
ORPHA:466926 |
Pseudoachondroplasia |
|
Irregular carpal bones, Platyspondyly, Small epiphyses of the phalanges of the hand, Flared femor... |
OMIM:177170 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... |
ORPHA:508 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Osteopenia, Genu valgum, Intrauterine growth retardation, Adrenal insufficiency... |
OMIM:176270 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Hepatomegaly, Short metacarpal, Horizontal sacrum, Platyspo... |
OMIM:215140 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Pancreatitis, Hepatic amyloidosis, Decreased response to growth hormone stimul... |
ORPHA:470 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Malabsorption, Hepatosplenomegaly, Diarrhea, Osteoporosis, Pathologic f... |
ORPHA:98850 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, Increased intervertebral space, Horizont... |
OMIM:256050 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Malabsorption, Short stature, Vomiting, Hypothyroidism, Gait dist... |
ORPHA:213 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Abnormality of the abdominal organs, Craniosynostosis, Cleft palate, Osteope... |
ORPHA:2409 |
Reynolds Syndrome |
|
Hepatomegaly, Steatorrhea, Splenomegaly, Gastrointestinal hemorrhage, Jaundice, Biliary cirrhosis |
OMIM:613471 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Osteo... |
ORPHA:91 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies... |
ORPHA:93315 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Osteogenesis Imperfecta, Type Xvii |
|
Short stature, Platyspondyly, Scoliosis, Osteoporosis, Thin metacarpal cortices, Vertebral compre... |
OMIM:616507 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
High palate, Wide anterior fontanel, Increased bone mineral density, Osteopenia, Broad femoral ne... |
ORPHA:85184 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Flat distal femoral epiphysis, Short stature, Platyspondyly, Broad femoral neck, Short... |
OMIM:609324 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Recurrent fractures, Joint laxity, Osteoporosis, Short stature |
OMIM:248010 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Colon perforation, Biliary atresia, Intestinal malrotation, Glycosuria, Pancre... |
OMIM:600001 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Osteopenia, Osteoporosis, Difficulty walking, Gait ataxia |
ORPHA:529665 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Cryptorchidism, Cleft palate... |
ORPHA:432 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Short stature |
ORPHA:329249 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Cleft palate, Osteoporosis, Gait ataxia, Decreased serum estradiol, Incr... |
OMIM:615300 |
Werner Syndrome |
|
Reduced bone mineral density, Short stature, Elevated circulating aspartate aminotransferase conc... |
OMIM:277700 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Severe short stature, Cleft palate, Club-shaped proximal fem... |
OMIM:184250 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomegaly, Splen... |
OMIM:609981 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Short stature, Decreased body weight, Decreased testicular size, Steatorrhea |
OMIM:601347 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619232 |
Axial Spondylometaphyseal Dysplasia |
|
Flattened femoral head, Coxa vara, Thoracic scoliosis, Delayed ossification of carpal bones, Mild... |
ORPHA:168549 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
Werner Syndrome |
|
Joint stiffness, Type II diabetes mellitus, Thyroid carcinoma, Increased bone mineral density, Ov... |
ORPHA:902 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car... |
ORPHA:882 |
Hajdu-Cheney Syndrome |
|
High palate, Dislocated radial head, Kyphoscoliosis, Crowded carpal bones, Short stature, Intesti... |
OMIM:102500 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Femoral bowing, Biconcave vertebral bodies, Thin bony cortex, Joint laxity, ... |
OMIM:617952 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... |
ORPHA:171 |
Familial Isolated Hyperparathyroidism |
|
Parathyroid adenoma, Elevated circulating parathyroid hormone level, Osteopenia, Primary hyperpar... |
ORPHA:99879 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Recurrent fractures, Malabsorption, Intrauterine growth retardation, He... |
ORPHA:1775 |
Dystonia 31 |
|
Dysphagia, Difficulty walking, Abnormal posturing |
OMIM:619565 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Glucose intolerance, Ataxia, Bradykinesia, Constipation, Hyperthyroidism, Gastroesophageal reflux... |
ORPHA:254892 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Wide anterior fontanel, Abnormal bone ossification, Abnormal femoral neck/head morph... |
ORPHA:163649 |
Estrogen Resistance |
|
Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Malabsorption, Spinal can... |
ORPHA:289176 |
Juvenile Paget Disease |
|
Recurrent fractures, Short stature, Osteoporosis, Bowing of the long bones, Coarse metaphyseal tr... |
ORPHA:2801 |
Oculodentodigital Dysplasia |
|
Ataxia, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, Camptodactyly of finger,... |
ORPHA:2710 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intrauterine growth retardation, Ataxia, Intestinal bleeding, Short stature, Metaphyseal sclerosi... |
OMIM:612199 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism,... |
ORPHA:95496 |
Macs Syndrome |
|
High palate, Short stature, Hypergonadotropic hypogonadism, Scoliosis, Osteoporosis, Brachydactyl... |
OMIM:613075 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Disproportionate short-limb short stature, Decreased calvarial oss... |
OMIM:259440 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Short stature, Platyspondyly, Abnormal metaphysis mor... |
ORPHA:93304 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Hepatomegaly, Osteoporosis |
OMIM:601979 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Osteopenia, Diarrhea, Gout, Hepatocellular adenoma, Polycystic ovarie... |
ORPHA:79259 |
Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis, Diabetes mellitus |
OMIM:601811 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Nail-Patella Syndrome |
|
Abnormality of femur morphology, Proximal finger joint hyperextensibility, Limited pronation/supi... |
ORPHA:2614 |
Prolactinoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... |
ORPHA:2965 |
Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Reduced bone mineral density, Hepatic failure, Cirrhosis, D... |
ORPHA:352 |
46,Xx Gonadal Dysgenesis |
|
Ataxia, Streak ovary, Reduced bone mineral density, Osteopenia, Short stature, Arachnodactyly, De... |
ORPHA:243 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Hypogonadism, A... |
ORPHA:2658 |
Ollier Disease |
|
Joint stiffness, Precocious puberty, Platyspondyly, Micromelia, Osteolysis, Abnormal metaphysis m... |
ORPHA:296 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Precocious puberty, Postnatal growth retardation, Cleft palate, Small for gestationa... |
ORPHA:96184 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Genu valgum, Proporti... |
OMIM:156500 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Kyphosis, Wide anterior fontanel, Disproportionate short-limb short stature,... |
OMIM:259420 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618187 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Osteopenia, Vomiting, Cholestasis, Thin bony cortex, Esophageal varix, Bile duct pro... |
OMIM:613658 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Platyspondyly, Humerus varus, Cholestasis, Abnormality of fibula morph... |
ORPHA:198 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
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Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Short stature, Small han... |
ORPHA:85172 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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High palate, Ataxia, Osteopenia, Scoliosis, Osteoporosis, Hypoplasia of the ulna, Patent ductus a... |
OMIM:615398 |
Isolated Biliary Atresia |
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Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to thrive, Splenomegaly, Sma... |
ORPHA:30391 |
Spondylometaphyseal Dysplasia, A4 Type |
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Coxa vara, Severe short stature, Platyspondyly, Micromelia, Short palm, Limitation of joint mobility |
ORPHA:168555 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:289548 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
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Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Short stature, Platyspondyly, ... |
OMIM:612847 |
Rothmund-Thomson Syndrome, Type 2 |
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Annular pancreas, High palate, Kyphoscoliosis, Talipes equinovarus, Short stature, Small hand, Os... |
OMIM:268400 |
Hardikar Syndrome |
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Hepatomegaly, Hepatic failure, Vomiting, Cholestasis, Esophageal varix, Prolonged neonatal jaundi... |
OMIM:301068 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
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High palate, Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital ... |
OMIM:245160 |
Body Mass Index Quantitative Trait Locus 19 |
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Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:168558 |
Second Metatarsal-Metacarpal Syndrome |
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Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Diamond-Blackfan Anemia 7 |
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Cleft palate, Osteopenia, Scoliosis, Osteoporosis, Triphalangeal thumb, Patent ductus arteriosus,... |
OMIM:612562 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Kyphosis, Osteopenia, Hypogonadotropic hypogonadism, Scoliosis, Osteoporosis, Bicoronal synostosi... |
OMIM:619718 |
Sickle Cell Anemia |
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Osteomyelitis, Abnormality of the spleen, Osteoporosis, Cholestasis, Pigment gallstones |
ORPHA:232 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Wide anterior fontanel, Hepatomegaly, Hiatus hernia, Splenomegaly, Osteopenia, Congenital hypothy... |
OMIM:610199 |
Stuve-Wiedemann Syndrome 1 |
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Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proximal interphalangea... |
OMIM:601559 |
Brachyolmia, Maroteaux Type |
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Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short stature |
ORPHA:93302 |
Body Mass Index Quantitative Trait Locus 20 |
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Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... |
ORPHA:93316 |
Otospondylomegaepiphyseal Dysplasia |
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Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis... |
ORPHA:1427 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hepatomegaly, Short stature, Glycosuria, Hypoglycemia, Elevated hepatic transaminase, Diabetes me... |
OMIM:616026 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
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Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum, Proportionate short stature |
OMIM:608361 |
Spondyloepiphyseal Dysplasia Congenita |
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Kyphosis, Coxa vara, Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, Atlantoaxial instab... |
OMIM:183900 |
Hajdu-Cheney Syndrome |
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Hepatomegaly, Cleft palate, Osteopenia, Short neck, Biconcave vertebral bodies, Osteolysis, Bowin... |
ORPHA:955 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing ... |
OMIM:307800 |
Osteogenesis Imperfecta |
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Abnormality of femur morphology, Ataxia, Constipation, Osteopenia, Femoral bowing, Biconcave vert... |
ORPHA:666 |
Idiopathic Hypercalciuria |
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Osteopenia, Osteoporosis |
ORPHA:2197 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... |
ORPHA:93324 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Femoral... |
OMIM:608940 |
Refractory Celiac Disease |
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Malabsorption, Osteoporosis, Abnormal spleen physiology, Elevated hepatic transaminase, Villous a... |
ORPHA:398063 |
Congenital Generalized Lipodystrophy |
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Precocious puberty in females, Hyperinsulinemia, Bone cyst, Hepatomegaly, Macroglossia, Cirrhosis... |
ORPHA:528 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Craniosynostosis, O... |
OMIM:614732 |
Analbuminemia |
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Patent ductus arteriosus, Osteoporosis |
OMIM:616000 |
Proprotein Convertase 1/3 Deficiency |
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Malabsorption, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Diarrhea, Rea... |
OMIM:600955 |
Spondylocamptodactyly Syndrome |
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Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
Matthew-Wood Syndrome |
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Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... |
ORPHA:2470 |
Infantile Liver Failure Syndrome 3 |
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Abnormality of the epiphysis of the femoral head, Beaking of vertebral bodies, Hypoplastic verteb... |
OMIM:618641 |