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 |
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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 |
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Maturity-onset diabetes of the young |
OMIM:125851 |
Maturity-Onset Diabetes Of The Young, Type 7 |
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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 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Diabetes mellitus, Type I 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 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Diabetes mellitus, Exo... |
OMIM:260370 |
Maturity-Onset Diabetes Of The Young, Type 1 |
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Maturity-onset diabetes of the young |
OMIM:125850 |
Pancreas, Dorsal, Agenesis Of |
|
Diabetes mellitus |
OMIM:167755 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
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 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Steatorrhea, Short stature |
OMIM:618752 |
Mody |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... |
OMIM:167800 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea, Small for gestational age |
OMIM:615935 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption |
ORPHA:309108 |
Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat ma... |
OMIM:613291 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Dia... |
ORPHA:99886 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
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Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... |
ORPHA:171706 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Steatorrhea, Exocrine pancreatic insufficiency, Ja... |
OMIM:612714 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... |
ORPHA:95427 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Hyperglycemia, Intraut... |
OMIM:615710 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Abnormal intestine morphology, Celiac disease, Short stature, Achalasia, Hepatosplenomegaly, Type... |
OMIM:615952 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency |
ORPHA:586 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Congenital Short Bowel Syndrome |
|
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... |
OMIM:615237 |
Wolman Disease |
|
Hepatomegaly, Adrenal insufficiency, Cachexia, Esophageal varix, Growth delay, Splenomegaly, Stea... |
ORPHA:75233 |
Familial Pancreatic Carcinoma |
|
Intestinal pseudo-obstruction, Peritoneal abscess, Functional intestinal obstruction, Weight loss... |
ORPHA:1333 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Severe failure to thrive, Intrauterine growth retardation, Transient neonatal diab... |
OMIM:601410 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Short stature, Hyperinsulinemic hypoglycemia, Osteoporosis, Scoliosis, Short neck, Delayed thelar... |
OMIM:616033 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Asplenia, Chronic hepatitis, Hepatitis, Primary adrenal insufficiency,... |
OMIM:269200 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, High palate, Short stature, Failure to thrive, Hyperechogenic pancreas, Steatorrhea... |
OMIM:617941 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Contractures involving the joints of the feet, Hepatomegaly, Mild postnatal growth retardation, A... |
ORPHA:456312 |
Short Stature Due To Ghsr Deficiency |
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Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Vomiting,... |
ORPHA:314811 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... |
ORPHA:1802 |
Johanson-Blizzard Syndrome |
|
Intrauterine growth retardation, Short stature, Failure to thrive, Malabsorption, Anal atresia, A... |
ORPHA:2315 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly... |
OMIM:608600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Splen... |
OMIM:607765 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Malabsorption, Hypohidrosis, Exocrine pancreatic insufficiency, Cryptorchi... |
ORPHA:452 |
Chylomicron Retention Disease |
|
Growth delay, Vomiting, Failure to thrive, Hypocholesterolemia, Increased hepatocellular lipid dr... |
ORPHA:71 |
Chylomicron Retention Disease |
|
Growth delay, Vomiting, Failure to thrive, Hypocholesterolemia, Steatorrhea, Diarrhea |
OMIM:246700 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613375 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Failure to thrive, Weight loss, Malabsorption, Cholestatic liver disea... |
ORPHA:92050 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:147630 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Osteoporosis, Hypogona... |
ORPHA:79230 |
Donohue Syndrome |
|
Fasting hypoglycemia, Intrauterine growth retardation, Hepatic fibrosis, Hyperglycemia, Precociou... |
OMIM:246200 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Adrenal insufficiency, Increased hepatic echogenicity, Hepatic fibrosis, Esophageal... |
OMIM:278000 |
Isolated Glycerol Kinase Deficiency |
|
Short stature, Osteoporosis, Hyperlordosis, Cryptorchidism, Scoliosis, Adrenocortical hypoplasia |
ORPHA:408 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Failure to thrive, Hepatic steatosis, Steatorrhea,... |
OMIM:616263 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, High palate, Small for gestational age, Short stature, Insuli... |
OMIM:262190 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Failure to thrive, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Diarrhea, J... |
OMIM:235555 |
Somatostatinoma |
|
Increased circulating cortisol level, Neoplasm of the small intestine, Primary hyperparathyroidis... |
ORPHA:97283 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hepatomegaly, Growth delay, Short stature, Abnormality of the liver, Hypo... |
ORPHA:1667 |
Mahvash Disease |
|
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... |
ORPHA:2790 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... |
ORPHA:369 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Short stature, Limb undergrowth, Abnormality of limb bone morphology, Abnormal cort... |
ORPHA:2204 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Hepatomegaly, Proximal femoral metaphyseal irregular... |
OMIM:260400 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Failure to thrive,... |
ORPHA:79303 |
Hypercholanemia, Familial 1 |
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Failure to thrive, Steatorrhea, Fat malabsorption |
OMIM:607748 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypoglycemia, Severe postnatal growth retardation, Short stature, Pituitar... |
OMIM:262700 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Pituitary dwarfism, Severe short stature, Impaired growth-hormone response to insul... |
OMIM:262400 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hepatomegaly, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Metaphyseal dysplasia, Growth delay, Short stature, Kyphoscoliosis, Osteoporosis, D... |
OMIM:614727 |
Isolated Sedoheptulokinase Deficiency |
|
Severe postnatal growth retardation, Short stature, Hepatitis, Cholestatic liver disease, Steator... |
ORPHA:440713 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Cleft palate, Micromelia, Abnormal form of the vertebral... |
ORPHA:2635 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Abnormality of the fifth metatarsal bone, Abnormality of the third metata... |
ORPHA:564003 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Insulinoma |
|
Neuroendocrine neoplasm, Zollinger-Ellison syndrome, Neoplasm of the adrenal gland, Hyperinsuline... |
ORPHA:97279 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Diabetes mellitus |
OMIM:610947 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, High palate, Hypoglycemia, Failure to thrive in i... |
OMIM:619418 |
Pancreatic insufficiency, combined exocrine |
|
Exocrine pancreatic insufficiency, Anal atresia |
OMIM:260450 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Growth delay, Short stature, Osteoporosis, Pathologic fractu... |
OMIM:307030 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Intrauterine growth retardation, Short stature, Dysmetria, Hypogonadotropic hypogon... |
ORPHA:48431 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Intrauterine growth retardation, Short stature, Reduced bone mineral densi... |
OMIM:617052 |
Shashi-Pena Syndrome |
|
Osteoporosis, Hypoglycemia, Scoliosis, Kyphosis |
OMIM:617190 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Growth delay, Failure to thrive, Decreased response to growth horm... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Growth delay, Failure to thrive, Decreased response to growth horm... |
ORPHA:71526 |
Glucagonoma |
|
Stomatitis, Increased circulating cortisol level, Primary hyperparathyroidism, Gastrointestinal h... |
ORPHA:97280 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Abnormal intestine morphology, Hypoglycemia, Vomiting, Failure to thrive, Diarrhea, Hyperinsulinemia |
OMIM:606528 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Colitis, Weight loss, Steatorrhea, Exocrine pancreatic insufficiency, Diarrhea |
ORPHA:309031 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... |
ORPHA:276556 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Osteoporosis, Delayed puberty, Osteopenia |
OMIM:615270 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... |
OMIM:618160 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Growth delay, Short stature, Proximal femoral epiphysiolysis... |
ORPHA:811 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Deeah Syndrome |
|
Hepatomegaly, Dysphagia, High palate, Intrauterine growth retardation, Decreased circulating free... |
OMIM:619004 |
Eosinophilic Gastroenteritis |
|
Dysphagia, Vomiting, Weight loss, Malabsorption, Steatorrhea, Abnormality of the gastrointestinal... |
ORPHA:2070 |
Perrault Syndrome 1 |
|
High palate, Short stature, Talipes equinovarus, Osteoporosis, Increased circulating gonadotropin... |
OMIM:233400 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Irregular tarsal ossification, High palate, Short stature, Irregular vertebral endp... |
OMIM:226980 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Bile Acid Malabsorption, Primary, 2 |
|
Prolonged neonatal jaundice, Steatorrhea, Periportal fibrosis, Chronic diarrhea |
OMIM:619481 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Pancreatic islet-cell hyperplasia, Bilateral cleft lip and palate, Intestinal malrotation, Large ... |
OMIM:601165 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Classic Galactosemia |
|
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Hypoglycemia, Decreased serum insulin-like gr... |
ORPHA:79239 |
Ck Syndrome |
|
High palate, Abnormal cortical bone morphology, Kyphosis, Joint hypermobility, Hyperactivity, Abn... |
OMIM:300831 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:324575 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex charac... |
ORPHA:2410 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly |
OMIM:264010 |
Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty, Premature ovarian insufficiency |
OMIM:300604 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Lethargy, Cholangiocarcinoma, Hepatocellular carcinoma, Hypergl... |
ORPHA:465508 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Reduced bone mineral dens... |
ORPHA:970 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Osteoporosis, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, ... |
ORPHA:79301 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... |
OMIM:604367 |
Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Stomatitis, Failure to thrive, Vomiting, Weight loss, Short stature, Thyroiditis,... |
OMIM:212750 |
Pearson Syndrome |
|
Adrenal insufficiency, Splenomegaly, Postnatal growth retardation, Steatorrhea, Diabetes mellitus... |
ORPHA:699 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Back pain, Kyphosis, O... |
OMIM:271530 |
Cystic Fibrosis |
|
Hepatomegaly, Rectal prolapse, Failure to thrive, Pancreatitis, Cirrhosis, Hepatosplenomegaly, St... |
OMIM:219700 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... |
ORPHA:79084 |
Chondroectodermal Dysplasia With Night Blindness |
|
Gait disturbance, Metaphyseal dysplasia, Short stature, Fractures of the long bones, Osteoporosis... |
ORPHA:319195 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Osteoporosis, Contractures of the large joints, Short stature |
OMIM:608278 |
Greig Cephalopolysyndactyly Syndrome |
|
1-3 toe syndactyly, Broad hallux phalanx, Hyperglycemia, 3-4 finger syndactyly, Broad thumb, Cran... |
OMIM:175700 |
Infantile Systemic Hyalinosis |
|
Growth delay, Failure to thrive, Polycystic ovaries, Malabsorption, Severe short stature, Abnorma... |
ORPHA:2176 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Immunodeficiency 12 |
|
Osteoporosis, Growth delay |
OMIM:615468 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... |
ORPHA:3416 |
Proteus Syndrome |
|
Mandibular hyperostosis, Spinal canal stenosis, Thin bony cortex, Kyphoscoliosis, Splenomegaly, C... |
OMIM:176920 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Osteoporosis, Splenomegaly, Kyphosis, Ataxia, Flexion contracture |
ORPHA:87876 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Dysphagia, Growth delay, Short stature, Rickets, Metaphyseal widening, Glycosuria, ... |
OMIM:219800 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Growth delay, Hepatocellular carcinoma, Increased hepatic gly... |
ORPHA:2088 |
Rothmund-Thomson Syndrome, Type 1 |
|
Short stature, Osteoporosis, Male hypogonadism, Hypothyroidism, Premature ovarian insufficiency |
OMIM:618625 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Diabetes mellitus |
OMIM:609069 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Osteoporosis, Kyphosis, Hypogonadism, Hepatic steatosis, Diabet... |
OMIM:615381 |
Sclerosteosis |
|
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... |
ORPHA:3152 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Ataxia, Increased bone ... |
OMIM:136300 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Short stature, Kyphosis |
ORPHA:2786 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Vomiting, Increased hepatic glycoge... |
ORPHA:263455 |
Pseudoachondroplasia |
|
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... |
ORPHA:750 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Metaphyseal dysplasia, Short stature, Platyspondyly, Waddling gait, Delayed ossificat... |
OMIM:617974 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis, Coxa valga, Finger clinodactyly, Cryptorchidism, Bilateral talipes equinovarus |
ORPHA:2958 |
Orofaciodigital Syndrome Type 1 |
|
Cleft palate, Hamartoma of tongue, Reduced bone mineral density, Foot polydactyly, Deviation of f... |
ORPHA:2750 |
Winchester Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... |
OMIM:277950 |
Prieto X-Linked Mental Retardation Syndrome |
|
Talipes equinovarus, Osteoporosis, Radial deviation of finger, Coxa valga, Cryptorchidism, Clinod... |
OMIM:309610 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short metatarsal, Osteoporosis, Short metacarpal, Pseudohypoparathyroidism, Short ... |
OMIM:612463 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:3294 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... |
OMIM:220111 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Thyroid carcinoma, Short stature, Fibrous dysplasia of the bones, Ricket... |
ORPHA:249 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancrea... |
ORPHA:93111 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Congenital hypothyroidism, Small for gestational age, Intrauterine growth ... |
ORPHA:2255 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossifica... |
OMIM:602557 |
Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Splenomegaly, Cirrhosis, Accessory spleen, Hep... |
OMIM:300972 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Gait disturbance, Broad ti... |
OMIM:271630 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Growth delay, Short stature |
OMIM:613606 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Short stature, Osteoporosis, Scoliosis, Generalized osteoporosis |
OMIM:613849 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Short stat... |
ORPHA:73272 |
Weismann-Netter Syndrome |
|
Abnormality of the ulna, Tibial bowing, Abnormality of femur morphology, Fibular bowing, Bowing o... |
ORPHA:3344 |
Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... |
ORPHA:2619 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Short stature, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Abnormality o... |
ORPHA:2089 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... |
ORPHA:53697 |
Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Short stature, Vertebral wedging, Talipes equinovarus... |
OMIM:259450 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Mild short stature, Platyspondyly, Adv... |
OMIM:617719 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Flattened femoral head, Abnormal intervertebral disk morphol... |
ORPHA:99642 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlargement of the proximal femoral epiphysis, Enlarged metacarpophalangeal joints, Genu varum, D... |
OMIM:208230 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Glucose intolerance, Impaired glucos... |
OMIM:137920 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Osteoporosis, Splenomegaly, Osteolysis |
ORPHA:100024 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Broad femoral neck, Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, I... |
OMIM:609223 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility |
ORPHA:2787 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormality of the carpal bones, Gait disturbance, Upper limb undergrowth, Short metatarsal, Oste... |
ORPHA:93351 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Warburg Micro Syndrome 1 |
|
Short stature, Kyphoscoliosis, Osteoporosis, Joint hypermobility, Cryptorchidism, Overlapping toe |
OMIM:600118 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Osteoporosis |
OMIM:256720 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short 1st metacarp... |
OMIM:251450 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Vomiting, Rickets, Osteoporosis, Ataxia, Diabetes mellitus, Type I diabetes mellitu... |
OMIM:560000 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Genu varum, Short stature, Abnormality of hand joint mobility, ... |
ORPHA:1159 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Ovarian Dysgenesis 1 |
|
Osteoporosis, Increased circulating gonadotropin level |
OMIM:233300 |
Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Intrauterine growth retardation, Irregular vertebral endplates, Osteoporos... |
OMIM:234250 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Diabetes mellitus, Typ... |
OMIM:606176 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Metaphyseal irregularity, Disproportionate short-limb short stature, Platys... |
OMIM:609052 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Flexion contracture of toe, Short stature, Osteoporosis, Kyphosis, Hypogonadism, ... |
ORPHA:3409 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Osteopenia |
ORPHA:397685 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Osteoporosis, Diabetes mellitus, Cryptorchidism, Decreased testicu... |
OMIM:610628 |
Estrogen Resistance Syndrome |
|
Absence of pubertal development, Osteoporosis, Glucose intolerance, Delayed epiphyseal ossificati... |
ORPHA:785 |
Eiken Syndrome |
|
Limited elbow flexion, Thin bony cortex, Short stature, Metaphyseal irregularity, Fibular hypopla... |
ORPHA:79106 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Art... |
OMIM:156530 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Short stature, Broad thumb, Generalized joint laxity, Broad phalanx, Short 5t... |
ORPHA:508498 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Hyperglycemia, Failure to thrive, Weight ... |
ORPHA:99885 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Constipation, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Propionic Acidemia |
|
Hepatomegaly, Dystonia, Hypoglycemia, Short stature, Vomiting, Osteoporosis, Pancreatitis, Consti... |
OMIM:606054 |
Greenberg Dysplasia |
|
Severe short-limb dwarfism, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of th... |
ORPHA:1426 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Steatorrhea |
OMIM:617308 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Second metatarsal posteriorly placed, Kyphoscoliosis, Osteoporosis, Arthrogry... |
OMIM:214150 |
Hyaline Fibromatosis Syndrome |
|
Osteoporosis, Osteopenia, Progressive flexion contractures, Diarrhea, Osteolysis |
OMIM:228600 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Dysphagia, Toe syndactyly, Hypoglycemia, Intrauterine growth retardation, Cone-shap... |
OMIM:618958 |
Anauxetic Dysplasia 1 |
|
Cervical subluxation, Short finger, Rhizomelia, Short toe, Platyspondyly, Flared metaphysis, Dela... |
OMIM:607095 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteolysis involving bones of the lower limbs, Increased susceptibility to fra... |
ORPHA:371428 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexion contracture, Severe sh... |
OMIM:313420 |
Osteogenesis Imperfecta, Type Xiii |
|
Short stature, Kyphoscoliosis, Osteoporosis, Platyspondyly, Dislocated radial head, Arachnodactyl... |
OMIM:614856 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short stature, Episodic vomiting, Insulin-resistant diabetes mellitus, Elevated hepatic transamin... |
ORPHA:2959 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis... |
OMIM:615830 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, High palate, Hypoplastic nipples, Macroglossia, Cholelithiasis, Splenomegaly, Chron... |
OMIM:618268 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Short stature, Short metatarsal, Osteoporosis, Hy... |
OMIM:612462 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Hypogonadotropic hypogonadism, Osteop... |
OMIM:235200 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Gait disturbance, Short lower limbs, Genu varum, Metaphyseal dysplasia, Bowing of the long bones,... |
ORPHA:2501 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Short stature, Abnormal vertebral morphology, Restricted large joint movement, Platyspondyly, Dis... |
ORPHA:163665 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Spondyloepiphyseal Dysplasia Congenita |
|
Upper limb undergrowth, Cleft palate, Dysplasia of the femoral head, Reduced bone mineral density... |
ORPHA:94068 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Biconcave vertebral bodies, High palate, Kyphoscoliosis, Osteoporosis, Pancreatitis, Arachnodacty... |
OMIM:236200 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Cachexia, Hepatic fibrosis, Esophageal varix, Vomiting, Failure... |
ORPHA:275761 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Growth delay, Fi... |
OMIM:264700 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Short stature, Short finger, Short metatarsal, Os... |
OMIM:103580 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Reduced bone mineral density, Genu va... |
OMIM:265900 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Bone cyst, Genu varum, Short stature, Abnormal form of the vertebral bodies, Ab... |
ORPHA:93160 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Hepatomegaly, Dysphagia, Insulin resistance, Osteoporosis, Ileus, Splenomegaly,... |
OMIM:613327 |
Dystonia 31 |
|
Arm dystonia, Dysphagia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... |
OMIM:619565 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Failure to thrive, Malabsorption, Diabetes mellitus, Type I diabetes m... |
OMIM:557000 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Generalized bone de... |
OMIM:600785 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short 5th metacarpal, Short stature, Multiple small vertebral fractures, P... |
OMIM:156510 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
High palate, Hypoglycemia, Small for gestational age, Short stature, Neonatal hypoglycemia, Postn... |
ORPHA:231140 |
Bangstad Syndrome |
|
Intrauterine growth retardation, Short stature, Increased circulating cortisol level, Polycystic ... |
ORPHA:1227 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Torticollis, Oste... |
ORPHA:73 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Short stature, Failure to thrive, Splenomegaly, Cirrhosis... |
OMIM:601847 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Cervical subluxation, Metaphyseal widening, Pointed proximal second through fifth m... |
OMIM:253000 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Tibial bowing, Thin bony cortex, Growth delay, Fi... |
OMIM:277440 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Hip osteoarthritis, Short stature, Irregular vertebral endplates, Beaking of ver... |
OMIM:604864 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Osteolytic ... |
OMIM:608612 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Cervical subluxation, Metaphyseal widening, Pointed proximal second through fifth m... |
OMIM:253010 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... |
ORPHA:93352 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hypoparathyroidism, Adrenal insufficiency, Elevated hepatic iron concentration, Hep... |
ORPHA:231222 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short stature, Abnormal cortical bone morphology, Pathologic fracture, Sh... |
ORPHA:166277 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance, Oste... |
OMIM:248370 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Genu varum, Thin bony cortex, Tibial bowing, Shor... |
ORPHA:289157 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Vomiting, Failure to thrive, Primary adrenal insufficiency, Hypogonad... |
OMIM:617872 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Maternal diabetes, Cervical instability, Laryngotracheomalacia, Abnormal vertebral morphology, Ap... |
ORPHA:93346 |
Pachydermoperiostosis |
|
Hepatomegaly, Genu varum, Clubbing of toes, Osteoporosis, Small hand, Abnormal cortical bone morp... |
ORPHA:2796 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Growth delay, Short stature, Cholelithiasis, Abnormal cortical bone morphology, Patent ductus art... |
OMIM:614886 |
Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral den... |
OMIM:619489 |
Osteogenesis Imperfecta, Type V |
|
Biconcave vertebral bodies, Limited pronation/supination of forearm, Short stature, Vertebral wed... |
OMIM:610967 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Short stature, Abnormal femoral neck/head morphology, Metaph... |
ORPHA:2788 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Short stature, Vo... |
ORPHA:79240 |
Odontochondrodysplasia 1 |
|
Mesomelic short stature, Metaphyseal cupping, Genu varum, Micromelia, Coronal cleft vertebrae, Sh... |
OMIM:184260 |
Methylcobalamin Deficiency Type Cble |
|
Intrauterine growth retardation, Vomiting, Osteoporosis, Clinodactyly, Abnormality of the liver, ... |
ORPHA:2169 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Stüve-Wiedemann Syndrome |
|
Short stature, Talipes equinovarus, Thickened cortex of long bones, Camptodactyly of finger, Elbo... |
ORPHA:3206 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Absent or minimally ossified vertebral bodies, Cleft palate,... |
ORPHA:1190 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Small for gestational age, Peritonitis, Hyperglycemia, Vomiting, Abnormal glucos... |
ORPHA:391673 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age |
OMIM:618858 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... |
OMIM:219080 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Cervical platyspondyly, Genu varum, Increased intervertebral... |
ORPHA:93314 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic hy... |
OMIM:602579 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... |
ORPHA:280356 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Intrauterine growth retardation, Growth delay, Cleft palate, Long fing... |
ORPHA:447980 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Short ne... |
ORPHA:1486 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Tenorio Syndrome |
|
Gait disturbance, Hypoglycemia, Stomatitis, Macroglossia, Osteopenia, Gastroesophageal reflux, Hy... |
OMIM:616260 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Hypoglycemia, Growth delay, Hypogonadotropic hypogonadism, Pituitary hy... |
ORPHA:95619 |
Wilson Disease |
|
Hepatomegaly, Hypoparathyroidism, Dystonia, Dysphagia, Esophageal varix, Hepatocellular carcinoma... |
OMIM:277900 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Coxa valga, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness |
OMIM:616583 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Osteoporosis, Secondary growth hormone deficiency, ... |
ORPHA:2235 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, High palate, Osteoporosis, Cryptorchidism, Thoracic scoliosis, Short neck, Osteoar... |
OMIM:618000 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Hypercholes... |
OMIM:151660 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irre... |
OMIM:618728 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Flat capital femoral epiphysis, Short stature, Irregular vertebral endplates, Tapere... |
OMIM:612350 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Hypoglycemia, Cleft palate, Ma... |
ORPHA:116 |
Schwartz-Jampel Syndrome, Type 1 |
|
Anterior bowing of long bones, Shoulder flexion contracture, Hip contracture, Flexion contracture... |
OMIM:255800 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Short stature, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gait, Abnormality o... |
ORPHA:166011 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Short statur... |
ORPHA:264580 |
Bruck Syndrome |
|
Short stature, Talipes equinovarus, Bowing of the long bones, Osteoporosis, Arthrogryposis multip... |
ORPHA:2771 |
Greenberg Dysplasia |
|
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Multiple prenatal fractures,... |
OMIM:215140 |
Abetalipoproteinemia |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hypocholesterolemia, Cirrhosis, Hepa... |
ORPHA:14 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Femoral bowing, Proximal femoral me... |
ORPHA:174 |
Grant Syndrome |
|
Short stature, Bowing of the long bones, Abnormal cortical bone morphology, Decreased skull ossif... |
ORPHA:2097 |
Dyssegmental Dysplasia With Glaucoma |
|
Cleft palate, Hip contracture, Short stature, Platyspondyly, Delayed epiphyseal ossification, Wid... |
OMIM:601561 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Platyspondyly, Short stature |
ORPHA:71267 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Intrauterine growth retardation, Annular pancreas, Intes... |
OMIM:601346 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Biliary tract obstruction, Gastritis, Meconium ileus, Exocrine pancreatic insufficiency, Biliary ... |
OMIM:219721 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten... |
OMIM:613027 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep... |
OMIM:211600 |
Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Short stature, Rhizomelia, Platyspondyly, Splenomegaly... |
OMIM:602271 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic hypoglycemia, Gastr... |
ORPHA:79319 |
Johanson-Blizzard Syndrome |
|
Hypoplastic nipples, Intrauterine growth retardation, Small for gestational age, Anteriorly place... |
OMIM:243800 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Xerostomia, Premature adrenarche, Hy... |
ORPHA:398079 |
Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Growth delay, Beaking of vertebral bodies, Osteoporosis, Abnormal for... |
ORPHA:2078 |
Prader-Willi Syndrome |
|
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Diabetes mellitus,... |
ORPHA:739 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Biliary tract abnormality, Cholestasis, Fat malabsorption |
ORPHA:79168 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, High palate, Intrauterine growth retard... |
ORPHA:769 |
Pituitary Adenoma 4, Acth-Secreting |
|
Biconcave vertebral bodies, Glucose intolerance, Osteoporosis, Impaired glucose tolerance, Kyphos... |
OMIM:219090 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... |
OMIM:231070 |
Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Short stature, Bifid uvula, Recurrent hypog... |
ORPHA:254516 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Growth delay, I... |
ORPHA:189439 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... |
OMIM:615925 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Failure to thrive, Papillary thyroid carcinoma, Cirrhosis, Hypercholest... |
OMIM:118450 |
Dysspondyloenchondromatosis |
|
Short stature, Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Platyspondyly, Abnormali... |
ORPHA:85198 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Anterior pituitary... |
ORPHA:98754 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteoporosis, Platyspondyly, Severe short stature, Osteopenia, Femoral bowing, Recurrent fracture... |
OMIM:126550 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short stature, Osteoporosis, Platyspondyly, Thoracic kyp... |
ORPHA:85194 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Anterior pituitary... |
ORPHA:98793 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Short metatarsal, A... |
ORPHA:1856 |
Short Syndrome |
|
Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Birth length less than 3rd ... |
OMIM:269880 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Dispropor... |
OMIM:601376 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis, Severe short stature |
OMIM:204730 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flat capital femoral epiphysis, Tapered finger, Platyspondyly, Abnormality of the metaphysis, Ost... |
ORPHA:157965 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Nausea, Hyperglycemia, Hypercholesterolemia, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Short stature, Decreased response to growth hormone stimulation test, Acro... |
OMIM:176270 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft palate, Hypogonadotropic hypogonadism, Osteoporosis, Clinodactyly, Decreased testicular size |
OMIM:614838 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Anterior pituitary... |
ORPHA:177904 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus |
ORPHA:65288 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Cleft palate, High palate, Short stature, Abnormal vertebral morphology, Beaking of vertebral bod... |
ORPHA:93359 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture |
OMIM:174810 |
Cantu Syndrome |
|
Metaphyseal widening, Osteoporosis, Broad first metatarsal, Platyspondyly, Cuboid-shaped vertebra... |
OMIM:239850 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Short stature, Osteoporosis, Gout, Pancreat... |
OMIM:232200 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Short stature, Premature adrenarche, Gastroparesis, Decreased inhibin B level, Anterior pituitary... |
ORPHA:177901 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Lethargy, Type II diabetes mellitus, Absence of pubertal development, Osteoporosis... |
ORPHA:398069 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Short stature, Abnormal form of the vertebral bodies, Abnormalit... |
ORPHA:2370 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Adrenal insufficiency, Hepatic fibrosis, Hepatocellular carcinoma, Growth del... |
ORPHA:231226 |
Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia |
ORPHA:2849 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... |
OMIM:609324 |
Niemann-Pick Disease, Type A |
|
Athetosis, Hepatomegaly, Short stature, Vomiting, Osteoporosis, Splenomegaly, Elevated circulatin... |
OMIM:257200 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Reduced bone mineral density, Cholestas... |
ORPHA:172 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Abnormality of the endocrine system, Hyperostosis frontalis interna, Diabetes melli... |
ORPHA:77296 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Platyspondyly, Thoracic kyphosis, Femoral bow... |
OMIM:619638 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Limited elbow extension, Atlantoaxial dislocation, Short ph... |
OMIM:177170 |
Atelosteogenesis, Type Ii |
|
Cleft palate, Increased intervertebral space, Coronal cleft vertebrae, Horizontal sacrum, Talipes... |
OMIM:256050 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Celiac disease, Thyroiditis, Postnat... |
OMIM:618985 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Functioning Gonadotropic Adenoma |
|
Abnormal prolactin level, Increased serum testosterone level, Macroorchidism, postpubertal, Adren... |
ORPHA:91348 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Cleft palate, Metaphyseal dappling, Metaphyseal irregularity, Platyspondyly, S... |
OMIM:184250 |
Osteogenesis Imperfecta, Type Xxi |
|
Bowing of the legs, Osteoporosis, Disproportionate short-limb short stature, Platyspondyly, Joint... |
OMIM:619131 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Cleft soft palate, Osteoporosis, Decreased skull ossification, Limitation of joint ... |
ORPHA:99742 |
Mycetoma |
|
Bone cyst, Abnormality of forearm bone, Osteoporosis, Abnormal form of the vertebral bodies, Abno... |
ORPHA:2583 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
Menkes Disease |
|
Intrauterine growth retardation, Short stature, Metaphyseal widening, Joint laxity, Osteoporosis,... |
OMIM:309400 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Cortical... |
ORPHA:1310 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Thin bony cortex, Growth delay, Fibular bowing, Rickets, Bowing of the legs, Metap... |
OMIM:600081 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Pseudobulbar paralysis, Kyphoscoliosis, Spastic ataxia, Back pain, Localized os... |
ORPHA:199354 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Mucolipidosis Type Iii |
|
Cleft palate, Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density,... |
ORPHA:577 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Craniosynostosis, Osteoporosis, Abnormality of the metaphysis, Finger syndactyly, Bra... |
ORPHA:1515 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Upper limb undergrowth, Genu varum, Short stature, Metaphyseal irregularity, R... |
ORPHA:93315 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Osteoporosis, Splenomegaly |
ORPHA:98848 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatarsal, Platyspo... |
OMIM:271650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
High, narrow palate, Cleft palate, Thin bony cortex, Short stature, Talipes equinovarus, Long fin... |
OMIM:309583 |
Cranio-Osteoarthropathy |
|
Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Clubbing of to... |
ORPHA:1525 |
Prader-Willi-Like Syndrome |
|
Short stature, Premature adrenarche, Decreased response to growth hormone stimulation test, Gastr... |
ORPHA:398073 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Central hypothyroidism, Intrauterine growth retardation, Growth delay, Short stature, Tapered fin... |
OMIM:300998 |
Axial Spondylometaphyseal Dysplasia |
|
Proximal femoral metaphyseal irregularity, Mild postnatal growth retardation, Posterior wedging o... |
ORPHA:168549 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Dystonia, Intrauterine growth retardation, Hepatic fibrosis, Osteoporosis, Hepatic ... |
OMIM:619487 |
Lichtenstein Syndrome |
|
C1-C2 subluxation, Ulnar deviation of finger, Increased susceptibility to fractures, Osteoporosis... |
OMIM:246550 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obesity, Childhood-onset trunc... |
ORPHA:71529 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Short stature, Osteoporosis, Gout, Pancreat... |
OMIM:232220 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Abnormality of the metaphysis, Platyspondyly, Increased vertebral ... |
ORPHA:93304 |
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Moderate generalized osteoporosis, Biconcave flattened vertebrae |
OMIM:166230 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoparathyroidism, Adrenal insufficiency, Hepatic fibrosis, Hepatocellular carcino... |
ORPHA:231214 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... |
ORPHA:210110 |
Melnick-Needles Syndrome |
|
Short stature, Bowing of the long bones, Abnormal cortical bone morphology, Abnormality of the me... |
ORPHA:2484 |
Idiopathic Juvenile Osteoporosis |
|
Gait disturbance, Osteoporosis, Kyphosis, Vertebral compression fracture, Recurrent fractures |
ORPHA:85193 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Vomiting, Hyperglycemia, Weight loss, Diarrhea |
ORPHA:134 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Kyphosis, Severe short stature, Reduced bone mineral density, Hyperhi... |
ORPHA:2617 |
Schimke Immunoosseous Dysplasia |
|
Lateral displacement of the femoral head, Intrauterine growth retardation, Platyspondyly, Osteope... |
OMIM:242900 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... |
ORPHA:562 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis, Decreased circulati... |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Primary hypercortisolism, Increased circulating cortisol level, Osteoporosis, Decreased circulati... |
OMIM:610489 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cleft palate, High palate, Coxa valga, Wide proximal femoral metaphysis, Abnormal femoral neck/he... |
ORPHA:163649 |
Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Short lower limbs, Disproportionate short-limb short stature, M... |
OMIM:259440 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hip contracture, Short stature, Distal tapering of metatarsals, Gait disturban... |
OMIM:259600 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Failure to thrive, Prolonged neonatal jaundice, Intrahepatic ... |
OMIM:214950 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Triphalangeal thumb, Growth delay, Streak ovary, Osteoporosis, Absence of secondary sex character... |
ORPHA:2232 |
Macs Syndrome |
|
High palate, Short stature, Osteoporosis, Joint hypermobility, Hypergonadotropic hypogonadism, Cr... |
OMIM:613075 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Gastrointestinal hemorrhage, Steatorrhea, Biliary cirrhosis, Jaundice |
OMIM:613471 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged metacarpal epiphyses, Broad ... |
OMIM:609616 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Vomiting, Failure to thrive, Pancreatitis, Hepatic amyloidosis, Cirrhosis, Hypercho... |
ORPHA:470 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, H... |
ORPHA:79237 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Short stature, Polycystic ovaries, Short toe, Kyphosis, Hyperlordosis,... |
ORPHA:3085 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Growth delay, Osteoporosis, Intestinal lymphangiectasia, Syndactyly, Camptodactyly |
OMIM:616006 |
Ollier Disease |
|
Platyspondyly, Precocious puberty, Abnormality of the metaphysis, Joint stiffness, Micromelia, Os... |
ORPHA:296 |
Leprechaunism |
|
Severe intrauterine growth retardation, Central hypothyroidism, Hepatomegaly, Fasting hypoglycemi... |
ORPHA:508 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Talipes equinovarus, Short stature, Small hand, Platyspondyly, ... |
ORPHA:85172 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa valga, Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Esophagit... |
ORPHA:1901 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Nausea, Overlapping toe, Reduced bone mineral density, Scoliosis, Broad-based gait, Cryptorchidis... |
ORPHA:466926 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Severe short stature, Coxa vara, Short palm, Limitation of joint mobility, Micromelia |
ORPHA:168555 |
Osteogenesis Imperfecta, Type Xvii |
|
Short stature, Osteoporosis, Platyspondyly, Vertebral compression fracture, Thin metacarpal corti... |
OMIM:616507 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology, Platyspondyly |
OMIM:269630 |
Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Growth delay, Insulin resistance, Osteop... |
ORPHA:91 |
Brachyolmia, Maroteaux Type |
|
Abnormal form of the vertebral bodies, Scoliosis, Platyspondyly, Short stature |
ORPHA:93302 |
Stuve-Wiedemann Syndrome 1 |
|
Short stature, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femo... |
OMIM:601559 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Tibial bowing, Thin bony cortex, Growth delay, Fibular bowing, Rickets, Bowing of the legs, Metap... |
OMIM:241530 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Irregular vertebral endplates, Bowing of the legs, Lower limb undergrowth, Kyphosc... |
OMIM:612847 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Decreased body weight, Decreased testicular size, Steatorrhea, Short stature |
OMIM:601347 |
Cystinosis |
|
Gait disturbance, Short stature, Rickets, Vomiting, Malabsorption, Nephrogenic diabetes insipidus... |
ORPHA:213 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Recurrent fractures, Osteoporosis, Short stature, Joint laxity |
OMIM:248010 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Pancreatic hypoplasia, Intrauterine growth retardation, Hyperglycemia, Failure... |
OMIM:600001 |
Lowry-Maclean Syndrome |
|
Pyloric stenosis, High, narrow palate, Abnormality of the abdominal organs, Cleft palate, Intraut... |
ORPHA:2409 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu varum, Flat capital femoral epiphysis, Proportionate short stature, Platyspondyly, Genu valgum |
OMIM:608361 |
Aggressive Systemic Mastocytosis |
|
Osteoporosis, Malabsorption, Pathologic fracture, Decreased liver function, Hypersplenism, Hepato... |
ORPHA:98850 |
Atypical Werner Syndrome |
|
Ovarian neoplasm, Short stature, Insulin-resistant diabetes mellitus, Reduced bone mineral densit... |
ORPHA:79474 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cleft palate, Hypogonadotropic hypogonadism, Osteoporosis, Generalized joint laxity, Hypoplasia o... |
ORPHA:432 |
Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Thin bony cortex, Bowing of the long bones, Generalized osteoporosis,... |
OMIM:617952 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Cleft soft palate, Kyphoscoliosis, Pl... |
ORPHA:93316 |
Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly, Camptodactyly of finger |
ORPHA:3180 |
Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Abnormally ossified vertebrae, Short phalanx of finger, Flared femoral metaphysis, ... |
ORPHA:1427 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated ci... |
OMIM:619232 |
Dent Disease 1 |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Bowing of the legs, Meta... |
OMIM:300009 |
Werner Syndrome |
|
Hypogonadism, Osteoporosis, Diabetes mellitus, Short stature |
OMIM:277700 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Bowing of the long bones, Proximal placement of thumb, Platyspondyly, Abnormality of ... |
ORPHA:93267 |
Galactosemia |
|
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Gait imbalance, Decreased serum insulin-like ... |
ORPHA:352 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... |
ORPHA:171 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Neonatal short-trunk short stature, Talipes equinovarus, Delayed calcaneal ossifica... |
OMIM:183900 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, High palate, Thin bony cortex, Osteopenia, Wide anterior fontanel,... |
ORPHA:85184 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Acute hepatic failure, Rickets of the lower... |
ORPHA:882 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Short stature |
ORPHA:329249 |
Perrault Syndrome 4 |
|
Cleft palate, Osteoporosis, Hypoplasia of the ovary, Decreased serum estradiol, Increased circula... |
OMIM:615300 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Osteoporosis, Osteopenia, Gait ataxia, Difficulty walking |
ORPHA:529665 |
Hajdu-Cheney Syndrome |
|
Biconcave vertebral bodies, High palate, Cervical instability, Short stature, Foot acroosteolysis... |
OMIM:102500 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Spinal canal stenosis, Genu varum, Tibial bowing, Growth delay, Short stature, Abnormal sacroilia... |
ORPHA:289176 |
Immunodeficiency 54 |
|
Hepatomegaly, Adrenal insufficiency, Intrauterine growth retardation, Short stature, Failure to t... |
OMIM:609981 |
Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Osteopenia, Primary hyperparathyroidism, Parathyr... |
ORPHA:99879 |
Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Short lower limbs, Vomiting, Bowing of the legs, Increased susc... |
OMIM:241500 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Femoral bowing, High palate, Tibial bowing, Short stature, Platyspondyly, Flexion contracture, Ce... |
OMIM:245160 |
Pseudodiastrophic Dysplasia |
|
Tongue-like lumbar vertebral deformities, Talipes equinovarus, Phalangeal dislocation, Rhizomelia... |
OMIM:264180 |
Gm1 Gangliosidosis |
|
Short stature, Abnormal form of the vertebral bodies, Patent ductus arteriosus, Splenomegaly, Hep... |
ORPHA:354 |
Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis, Diabetes mellitus |
OMIM:601811 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Platyspondyly, Coxa vara, Flared metaphysis, Waddling gait, Irregular, rachitic-l... |
OMIM:184252 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... |
OMIM:608940 |
Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia, Diabetes insipidus, Short stature, Failure to thrive, Abnormality of the hypothalam... |
ORPHA:95496 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Juvenile Paget Disease |
|
Short stature, Bowing of the long bones, Osteoporosis, Coarse metaphyseal trabecularization, Cran... |
ORPHA:2801 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypoglycemia, Short stature, Rickets, Glycosuria, Diabetes mellitus |
OMIM:616026 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Hypogonadism, Osteoporosis, Osteopenia |
OMIM:615267 |
Kniest Dysplasia |
|
Gait disturbance, Cleft palate, Hip contracture, Coronal cleft vertebrae, Delayed epiphyseal ossi... |
OMIM:156550 |
Oculodentodigital Dysplasia |
|
Short hallux, Gait disturbance, Toe syndactyly, Cleft palate, Hypoglycemia, Hyperostosis, Abnorma... |
ORPHA:2710 |
Prolactinoma |
|
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Vomiting, Hypogonadotropic... |
ORPHA:2965 |
Smith-Mccort Dysplasia 1 |
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Genu varum, Beaking of vertebral bodies, Metaphyseal irregularity, Short phalanx of finger, Platy... |
OMIM:607326 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
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Flattened metacarpal heads, Hip osteoarthritis, Short stature, Platyspondyly, Flattened metatarsa... |
OMIM:271600 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Bowing of the legs, Meta... |
OMIM:300554 |
Estrogen Resistance |
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Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia |
OMIM:615363 |
Bruck Syndrome 2 |
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Short stature, Talipes equinovarus, Increased susceptibility to fractures, Platyspondyly, Knee fl... |
OMIM:609220 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Inflammation of the large intestine, Hypoglycemia, Short stature, Increased hepatic glycogen cont... |
ORPHA:79259 |
Hyperzincemia With Functional Zinc Depletion |
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Diarrhea, Hepatomegaly, Osteoporosis |
OMIM:601979 |
Endosteal Hyperostosis, Autosomal Dominant |
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Sclerotic vertebral body, Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal end... |
OMIM:144750 |
Metaphyseal Acroscyphodysplasia |
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Genu varum, Short humerus, Short toe, Short phalanx of finger, Cone-shaped epiphyses of the phala... |
OMIM:250215 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoglycemia, Esophageal varix, Short stature, Rickets, Reduced bone mineral density, Portal hype... |
OMIM:613658 |
Osteogenesis Imperfecta, Type Iii |
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Biconcave vertebral bodies, Decreased calvarial ossification, Tibial bowing, Neonatal short-limb ... |
OMIM:259420 |
Lenz-Majewski Hyperostotic Dwarfism |
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Cleft palate, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Increased bon... |
ORPHA:2658 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Short stature, Arachnodactyly, Osteopenia, Reduced bone mineral density, Increased ... |
ORPHA:243 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Gait disturbance, Dysphagia, Goiter, Glucose intolerance, Osteoporosis, Bradykinesia, Gastropares... |
ORPHA:254892 |
Infantile Liver Failure Syndrome 3 |
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Hepatomegaly, Short stature, Talipes equinovarus, Beaking of vertebral bodies, Platyspondyly, Spl... |
OMIM:618641 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Pyloric stenosis, Cleft palate, High palate, Intrauterine growth retardation, Small for gestation... |
ORPHA:96184 |
Dyskeratosis Congenita |
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Hepatomegaly, Intrauterine growth retardation, Short stature, Osteoporosis, Neoplasm of the pancr... |
ORPHA:1775 |
Isolated Biliary Atresia |
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Hepatomegaly, Acholic stools, Small for gestational age, Atretic gallbladder, Bile duct prolifera... |
ORPHA:30391 |
8Q24.3 Microdeletion Syndrome |
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Short stature, Patent ductus arteriosus, Gastrointestinal hemorrhage, Thoracic scoliosis, Short f... |
ORPHA:508488 |
Nail-Patella Syndrome |
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Talipes equinovarus, Reduced bone mineral density, Contracture of the distal interphalangeal join... |
ORPHA:2614 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Dystonia, Intrauterine growth retardation, Short stature, Increased susceptibility to fractures, ... |
OMIM:612199 |
Kniest Dysplasia |
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Cleft palate, Abnormal bone structure, Laryngotracheomalacia, Coronal cleft vertebrae, Vertebral ... |
ORPHA:485 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Lumbar platyspondyly, Increased intervertebral space, Beaking of vertebral bodies, Metaphyseal wi... |
OMIM:618961 |
Gm1-Gangliosidosis, Type Ii |
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Coxa valga, Gait disturbance, Ataxia, Platyspondyly |
OMIM:230600 |
Autosomal Recessive Stickler Syndrome |
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Cleft palate, Short stature, Irregular vertebral endplates, Platyspondyly, Genu valgum, Joint hyp... |
ORPHA:250984 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating aldosterone level, Abnormality of the Leydig cells, Elevated circulating fo... |
ORPHA:289548 |
Mucopolysaccharidosis, Type Vii |
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Hepatomegaly, Metatarsus adductus, Short stature, Talipes equinovarus, Macroglossia, Anterior bea... |
OMIM:253220 |
Occipital Horn Syndrome |
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Absent tibia, Rickets, Hepatitis, Gastroparesis, Synostosis of joints, Brachydactyly, Osteomalaci... |
ORPHA:198 |
Rothmund-Thomson Syndrome, Type 2 |
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High palate, Short stature, Annular pancreas, Talipes equinovarus, Kyphoscoliosis, Osteoporosis, ... |
OMIM:268400 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
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Irregular vertebral endplates, Tapered finger, Metaphyseal irregularity, Proportionate short stat... |
OMIM:601668 |
Gm1-Gangliosidosis, Type Iii |
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Dystonia, Short stature, Platyspondyly, Kyphosis, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Ovarian Dysgenesis 8 |
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Elevated circulating luteinizing hormone level, Osteoporosis, Elevated circulating follicle stimu... |
OMIM:618187 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Metaphyseal dysplasia, Cervical instability, Kyphoscoliosis, Hepatic cysts, Platyspondyly, Disloc... |
OMIM:617425 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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High palate, Osteoporosis, Patent ductus arteriosus, Osteopenia, Ataxia, Hypoplasia of the ulna, ... |
OMIM:615398 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Congenital... |
OMIM:610199 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Decreased circulating aldosterone level, Abnormality of the Leydig cells, Elevated circulating fo... |
ORPHA:168558 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Intrauterine growth retardation, Short stature, Metaphyseal cupping of metacarpals, Rhizomelia, P... |
OMIM:300863 |
Matthew-Wood Syndrome |
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