Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
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 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Facial cleft |
OMIM:600776 |
Unilateral Ocular Duplication |
|
Encephalocele, Abnormal eyebrow morphology, Midline facial cleft, Blepharophimosis, Iris coloboma |
ORPHA:3374 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... |
ORPHA:79230 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus |
OMIM:615703 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Facial cleft, Eyelid coloboma, Blepharophimosis, Iris coloboma |
ORPHA:1104 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Short stature, Blepharophimosis, Upper eyelid coloboma, Facial cleft,... |
ORPHA:1791 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re... |
ORPHA:79085 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis |
OMIM:613877 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Facial cleft, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Eyelid coloboma, Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... |
ORPHA:263455 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Oculomaxillofacial Dysostosis |
|
Short stature, Abnormal eyelid morphology, Abnormal eyelash morphology, Facial cleft, Upslanted p... |
ORPHA:1794 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Telecanthus, Remnants of the hyaloid vascular system, Cryptorchidism, Midline faci... |
OMIM:603671 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Hepatic steatosis |
OMIM:615980 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... |
OMIM:246200 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re... |
ORPHA:435660 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Insulin-res... |
ORPHA:79083 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Cryptorchidism, Facial cleft, Intrauterine growth retardation, Spina bifida occult... |
ORPHA:1786 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Facial cleft, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida, Ptosis |
OMIM:311000 |
Joubert Syndrome 15 |
|
Coloboma, Exencephaly |
OMIM:614464 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
Facial Clefting, Oblique, 1 |
|
Coloboma, Tessier number 4 facial cleft |
OMIM:600251 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... |
ORPHA:453533 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycystic ovaries, Hepatic st... |
ORPHA:2348 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Diabetes mellitus, Cryptorchidism, Insulin resistance, Male hypogonadism, Hepatic s... |
OMIM:615381 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Facial cleft, Upslanted palpebral fissure |
ORPHA:66625 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... |
ORPHA:528 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Facial cleft, Eyelid coloboma, Iris coloboma, Ptosis |
ORPHA:1647 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Acrofacial Dysostosis, Weyers Type |
|
Advanced eruption of teeth, Mild short stature, Facial cleft |
ORPHA:952 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Telecanthus, Tessier number 13 facial cleft, Sparse eyelashes, Sparse eyebrow, Bil... |
OMIM:613451 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
Mosaic Trisomy 9 |
|
Spina bifida, Cryptorchidism, Patent ductus arteriosus, Facial cleft, Upslanted palpebral fissure... |
ORPHA:99776 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
3Mc Syndrome 3 |
|
Short stature, Highly arched eyebrow, Cryptorchidism, Facial cleft, Growth delay, Blepharophimosi... |
OMIM:248340 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... |
ORPHA:769 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance |
ORPHA:75563 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of e... |
ORPHA:93111 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:203800 |
Constricting Bands, Congenital |
|
Encephalocele, Eyelid coloboma, Facial cleft |
OMIM:217100 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Facial cleft, Eyelid coloboma, Cranium bifidum occu... |
ORPHA:306542 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Absent eyelashes, Cryptorchidism, Patent ductus arteriosus, Fac... |
ORPHA:861 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... |
OMIM:269880 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Insulin resistance |
OMIM:214150 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Insulin resistance, Hypoglycemia |
ORPHA:73272 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Bilateral cryptorchidism... |
OMIM:263650 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal... |
ORPHA:280365 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Spina bifida, Synophrys, Abnormali... |
ORPHA:1327 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Myelomeningocele |
ORPHA:2128 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis |
OMIM:119580 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft |
OMIM:239800 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... |
OMIM:608594 |
Silver-Russell Syndrome |
|
Precocious puberty, Cryptorchidism, Insulin resistance, Hyperhidrosis, Recurrent hypoglycemia, Pr... |
ORPHA:813 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Facial cleft, Eyelid coloboma, Chorioretinal coloboma, Iris coloboma |
ORPHA:268249 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Epicanthus, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraph... |
ORPHA:1908 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis |
OMIM:613327 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:3163 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys... |
OMIM:269700 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Fraser Syndrome 1 |
|
Encephalocele, Absent eyebrow, Absent eyelashes, Cryptorchidism, Myelomeningocele, Hydrocephalus,... |
OMIM:219000 |
Whipple Disease |
|
Splenomegaly, Hepatomegaly, Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... |
ORPHA:99885 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Werner Syndrome |
|
Insulin resistance, Ovarian neoplasm, Thyroid carcinoma, Hypogonadism, Type II diabetes mellitus,... |
ORPHA:902 |
Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Synophrys, Meningocele, Thick eyebrow,... |
ORPHA:894 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis |
ORPHA:96168 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Insulin resistance, Diabetes mellitus, Hypothyroidism |
OMIM:616541 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Caudal Duplication |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:1756 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... |
ORPHA:508 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:611134 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Insuli... |
ORPHA:96182 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Telecanthus, Facial cleft, Iris coloboma |
ORPHA:1236 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Familial Multiple Lipomatosis |
|
Insulin resistance |
ORPHA:199276 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Highly arched eyebrow, Hydrocephalus, Meningocele, Growth delay, Colob... |
OMIM:614424 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Hyperhidrosis, Glucose intoleran... |
ORPHA:358 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... |
ORPHA:2126 |
Fountain Syndrome |
|
Epicanthus, Short stature, Spina bifida, Synophrys, Spina bifida occulta, Thick eyebrow, Ptosis |
ORPHA:3219 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Delayed puberty |
ORPHA:90154 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short stature, Meningocele, Chorioretinal coloboma, Blepharophimosis, Ptosis |
ORPHA:2031 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Breast aplasia |
ORPHA:90153 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation, I... |
ORPHA:3376 |
Holoprosencephaly 1 |
|
Short stature, Alobar holoprosencephaly, Facial cleft, Cyclopia, Ethmocephaly |
OMIM:236100 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele, Chorioretinal coloboma |
ORPHA:2481 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
Isolated Arrhinia |
|
Eyelid coloboma, Facial cleft |
ORPHA:1134 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:267000 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... |
ORPHA:2839 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Myelomeningocele, Synophrys, Blepharop... |
OMIM:193500 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Upslanted palpebral fissure, Spina bifida occulta |
ORPHA:2437 |
Chromosome 17P13.1 Deletion Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Hydrocephalus, Synophrys, Hydrocele... |
OMIM:613776 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, In... |
ORPHA:1393 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Patent ductus arteriosus, Spina bifida |
ORPHA:1120 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... |
OMIM:276700 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Telecanthus, Cryptorchidism, Meningocele, Ptosis |
ORPHA:1827 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Cryptorchidism, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine ... |
ORPHA:2311 |
Lateral Meningocele Syndrome |
|
Telecanthus, Short stature, Cryptorchidism, Hydrocephalus, Meningocele, Patent ductus arteriosus,... |
OMIM:130720 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79474 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type... |
OMIM:606721 |
Lateral Meningocele Syndrome |
|
Epicanthus, Cryptorchidism, Meningocele, Umbilical hernia, Downslanted palpebral fissures, Iris c... |
ORPHA:2789 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Trisomy 20P |
|
Epicanthus, Macroorchidism, Highly arched eyebrow, Spina bifida, Cryptorchidism, Upslanted palpeb... |
ORPHA:261318 |
Bloom Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:125 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Spina bifida, Intrauterine growth retardation |
OMIM:616038 |
Amish Lethal Microcephaly |
|
Death in infancy, Spina bifida |
ORPHA:99742 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... |
ORPHA:2088 |
Trisomy 18 |
|
Epicanthus, Short stature, Spina bifida, Cryptorchidism, Anencephaly, Growth delay, Holoprosencep... |
ORPHA:3380 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... |
OMIM:137920 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99413 |
Turner Syndrome |
|
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99228 |
Monosomy X |
|
Hashimoto thyroiditis, High urinary gonadotropin level, Increased circulating gonadotropin level,... |
ORPHA:99226 |
Lathosterolosis |
|
Epicanthus, Meningocele, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis |
ORPHA:46059 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Spina bifida, Abnormal eyelid morphology, Abnormal eyela... |
ORPHA:2671 |
Jacobsen Syndrome |
|
Death in infancy, Epicanthus, Ectropion, Short stature, Spina bifida, Cryptorchidism, Growth dela... |
ORPHA:2308 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaundice, Portal inflammation, Perit... |
OMIM:619991 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Sparse eyelashes, Spina bifida, Proportionate short stature, Sparse eyebrow, Cryptor... |
OMIM:234100 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Spina bifida, Absent eyelashes, Cryptorchidism, Patent ductus arteriosus, Stillbirth,... |
OMIM:256520 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida, Cryptorchidism |
ORPHA:2874 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Fanconi Anemia |
|
Epicanthus, Short stature, Spina bifida, Abnormal eyelid morphology, Almond-shaped palpebral fiss... |
ORPHA:84 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Short stature, Spina bifida, Meningocele, Abnormal testis morpho... |
ORPHA:991 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cryptorchidism, Epicanthus, Disproportionate short-limb short stature, Facial cleft |
ORPHA:93271 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly, Pancreatic islet-... |
ORPHA:373 |
Curry-Jones Syndrome |
|
Blepharophimosis, Occipital meningocele, Lipomyelomeningocele, Iris coloboma |
OMIM:601707 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Diabetes mellitus |
ORPHA:465508 |
Nail-Patella Syndrome |
|
Short stature, Antecubital pterygium, Spina bifida, Ptosis |
OMIM:161200 |
Lumbar Syndrome |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:83628 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Epicanthus, Short stature, Rhizomelic leg shortening, Meningocele, Rhizo... |
ORPHA:397715 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia |
ORPHA:90065 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sparse eyebrow, Absent eyebrow, Meningocele, Sparse eyelashes |
ORPHA:1010 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Insulin resistance, Delayed menarche, Pubertal devel... |
ORPHA:740 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Diabetes mellitus, Patent ductus arteriosus, Biliary atresia, Glycosuria, Hyp... |
OMIM:600001 |
Greenberg Dysplasia |
|
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly |
OMIM:215140 |
22Q11.2 Deletion Syndrome |
|
Telecanthus, Epicanthus, Short stature, Spina bifida, Abnormal eyelid morphology, Cryptorchidism,... |
ORPHA:567 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Focal Dermal Hypoplasia |
|
Spina bifida, Patent ductus arteriosus, Chorioretinal coloboma, Umbilical hernia, Iris coloboma |
ORPHA:2092 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Disproportionate short stature, Meningocele, Intrauterine growth retardation |
ORPHA:2879 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Short stature, Spina bifida, Almond-shaped palpebral fissure, Coloboma, Retina... |
ORPHA:508498 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Orbital cyst, Iris coloboma, Spina bifida |
OMIM:109400 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Retinal coloboma |
OMIM:616546 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Upslanted palpebral ... |
OMIM:610828 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Anterior basal encephalocele, Coloboma, Cranium bifidum occultum, Ptosis |
OMIM:136760 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Short stature, Spina bifida, Highly arched eyebrow, Bilateral cryptorc... |
OMIM:180849 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia |
ORPHA:440713 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Epicanthus, Downslanted palpebral fissures, Spina bifida |
OMIM:619480 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Epicanthus, Telecanthus, Patent ductus arteriosus, Horizontal eyebrow, O... |
OMIM:267750 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Lisch nodules |
OMIM:162200 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria |
OMIM:227810 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Epicanthus, Short stature |
OMIM:277170 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Epicanthus, Spina bifida, Testicular neoplasm, Postnatal growth retardation, Cryptorchidism, Hydr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Epicanthus, Spina bifida, Testicular neoplasm, Postnatal growth retardation, Cryptorchidism, Hydr... |
ORPHA:363958 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Short stature, Spina bifida, Patent ductus arteriosus, Ptosis |
OMIM:274000 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Campomelic Dysplasia |
|
Epicanthus, Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short sta... |
OMIM:114290 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Aicardi Syndrome |
|
Postnatal growth retardation, Optic disc coloboma, Spina bifida, Sparse lateral eyebrow |
OMIM:304050 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Blepharophimosis, Hydrocephalus, Patent ductus arteriosus, Upper eyelid ... |
OMIM:164210 |
Arima Syndrome |
|
Growth delay, Occipital meningocele, Chorioretinal coloboma, Ptosis |
OMIM:243910 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Abnormality of the orbital region, Male sexual dysfu... |
ORPHA:322 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent ductus arteriosus, Pa... |
OMIM:192350 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Stillbi... |
OMIM:304120 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Frontorhiny |
|
Encephalocele, Epicanthus, Basal encephalocele, Cranium bifidum occultum, Iris coloboma, Ptosis |
ORPHA:391474 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Marfan Syndrome |
|
Meningocele, Downslanted palpebral fissures |
ORPHA:558 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Pancr... |
OMIM:312870 |
Scorpion Envenomation |
|
Hyperglycemia, Glycosuria |
ORPHA:466677 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:79102 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia |
OMIM:220111 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia |
ORPHA:293987 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Epicanthus, Disproportionate short stature, Cryptorchidism |
OMIM:276820 |