Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Oligospermia, Insulin resistance, Azoospermia, Obesity, H... |
OMIM:615703 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, ... |
OMIM:260370 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... |
ORPHA:324575 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Hypoglycemia, Generalized aminoac... |
OMIM:606528 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... |
ORPHA:280356 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Insulin re... |
OMIM:612526 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... |
ORPHA:3085 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Insulin resistance, Cirrhosis, Primary amenorrhea, M... |
OMIM:604367 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Small for gestational age |
OMIM:615935 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Insulin-r... |
ORPHA:90301 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... |
ORPHA:791 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... |
ORPHA:2470 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Microscopic hematuria, Proteinuria, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Excessive insu... |
ORPHA:276556 |
Galactokinase Deficiency |
|
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Small ... |
ORPHA:79237 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... |
OMIM:137920 |
Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus, Anemia, Hyperglycemia |
OMIM:609069 |
Perlman Syndrome |
|
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Cryptorchidism |
ORPHA:2849 |
Estrogen Resistance |
|
Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea, Impaired glu... |
OMIM:615363 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabe... |
ORPHA:79085 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Polycystic ov... |
ORPHA:2298 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased urine a... |
ORPHA:35878 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hypoplasia, Hepati... |
OMIM:610199 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Short neck, Anophthalmia, Microphthalmia |
OMIM:613885 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Ins... |
ORPHA:528 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abdominal obesity, Hepatic steatosis, Diabetes mellitus |
OMIM:615980 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Insulin resistance, Cirrhosis, Primary am... |
ORPHA:79083 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... |
OMIM:246200 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Delayed thelarche, Diabetes m... |
OMIM:616033 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164180 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... |
OMIM:601346 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Failure to thrive, Ketonuria, Glycosuria, Moderate albuminuria, Pancre... |
ORPHA:99885 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Abnormal labia majora morphology, Insulin resistance, Oligomenorrhea, Decreased ser... |
ORPHA:435660 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Microphthalmia |
OMIM:221950 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Bicornuate uterus, Papillary cystadenoma of the epi... |
ORPHA:93111 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Insulin resistance, Cirrhosis, Menometrorr... |
ORPHA:90970 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypogonadism, Diabetes mellitus, Insulin resistance, Cryptorchidism, Hepatic steatosis |
OMIM:615381 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hepatic steatosis |
ORPHA:363400 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Bilateral breast hyp... |
ORPHA:52901 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Ambiguous genitalia, female, Female infertility, Eunuchoid habitus, Hy... |
ORPHA:91 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan... |
ORPHA:456312 |
17Q12 Microdeletion Syndrome |
|
Ureterocele, Multicystic kidney dysplasia, Pancreatic aplasia, Renal insufficiency, Shawl scrotum... |
ORPHA:261265 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Insulin resistance, Secondary amenorrhea,... |
ORPHA:2348 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development,... |
ORPHA:785 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Bangstad Syndrome |
|
Small for gestational age, Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
OMIM:210740 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... |
ORPHA:79319 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly,... |
OMIM:602782 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189439 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Cirrhosis, Renal cyst, Hepatic fi... |
OMIM:602579 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Acute pancreatitis, Insulin-resist... |
ORPHA:79086 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
X-Linked Acrogigantism |
|
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... |
ORPHA:300373 |
Silver-Russell Syndrome |
|
Abnormal vagina morphology, Precocious puberty, Abnormality of male external genitalia, Hypospadi... |
ORPHA:813 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrh... |
OMIM:235200 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Primary amenorrhea, Adrenal hyperplasia, Ambiguous genitalia, Adrenog... |
OMIM:202110 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Uni... |
OMIM:308750 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Failure to thrive, Cryptorchidism, Small for gestational age |
OMIM:214150 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia |
ORPHA:1104 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... |
OMIM:203800 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... |
ORPHA:73272 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... |
ORPHA:811 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
Dextrocardia |
|
Abnormality of the ureter, Abnormality of the spleen, Pancreatic hypoplasia, Abnormal reproductiv... |
ORPHA:1666 |
Trisomy 13 |
|
Atrial septal defect, Anophthalmia, Ventricular septal defect, Optic atrophy, Cystic hygroma, Pat... |
ORPHA:3378 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... |
ORPHA:453533 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mel... |
OMIM:606069 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormal mitral valve morphology, Webbed neck, Branchial anomaly |
ORPHA:1131 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Lymphopenia, Cryptorchidism, Hypergonadotropic hypo... |
OMIM:617053 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
Hydrolethalus |
|
Anencephaly, Arrhinencephaly, Anophthalmia, Microphthalmia |
ORPHA:2189 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Cryptorchidism, Micropenis, Unilateral renal agenesis, Truncal obesity, Hypothyroidi... |
OMIM:616541 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... |
OMIM:219080 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin,... |
OMIM:608594 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... |
OMIM:201810 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational age, Biliary atresia,... |
ORPHA:2255 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum te... |
ORPHA:465508 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhos... |
OMIM:269700 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Decreased body wei... |
ORPHA:508 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Whipple Disease |
|
Hepatomegaly, Splenomegaly, Cachexia, Mediastinal lymphadenopathy, Hypothyroidism, Erectile dysfu... |
ORPHA:3452 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Insulin resistance, Decreased serum lepti... |
ORPHA:280365 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... |
OMIM:202010 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder, Small for g... |
ORPHA:556955 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Myoglobinuria, Dicarb... |
ORPHA:71212 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Insulin-resistant ... |
OMIM:151660 |
Werner Syndrome |
|
Slender build, Type II diabetes mellitus, Thyroid carcinoma, Ovarian neoplasm, Aplasia/Hypoplasia... |
ORPHA:902 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Uterine neoplasm, Hypoinsulinemia, Prostate cancer, Recurrent hypoglycemia... |
ORPHA:2126 |
Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Nephrogenic diabetes insipidus, Micropenis, Insulin resistance, Truncal obesit... |
OMIM:209900 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Infertility, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemi... |
OMIM:176270 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Insulin resistance, Hepatic stea... |
OMIM:613327 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... |
OMIM:167800 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Hydroureter, Thrombocytopenia, Hypothyroidism, Hydronep... |
OMIM:222300 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:435651 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Biliary atresia, Glycosuria, Ureteral duplication, Pancreatic hypoplasia, Abse... |
OMIM:600001 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Failure to thrive, Precocious puberty, Decreased response to growth hormone stimulation test, Ins... |
ORPHA:96182 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Elevated urinary dopamine, Nocturia, Hypoglycemia, Retrograde ejaculation, Insu... |
ORPHA:230 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Hepatomegaly, Hepatoblastoma, Renal cortical cysts, Pancreatic hyperplasia, Adre... |
OMIM:130650 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Abnormal autonomic nervous system physiology, Atriov... |
ORPHA:453499 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... |
ORPHA:96181 |
Trisomy 1Q |
|
Anophthalmia, Ventricular septal defect, Cystic hygroma, Patent ductus arteriosus, Increased nuch... |
ORPHA:261344 |
Gitelman Syndrome |
|
Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Renal potassiu... |
ORPHA:358 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity, Hepatic steatosis, Metrorrhagia |
ORPHA:96168 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic hypoplasia, Alpha-a... |
OMIM:619991 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
Short Syndrome |
|
Insulin resistance, Weight loss, Diabetes mellitus |
ORPHA:3163 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Stage 5 chronic kidne... |
OMIM:608612 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Microphthalmia, Short neck, Anophthalmia, Tetralogy of Fallo... |
ORPHA:2162 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Anophthalmia, Arrhinencephaly, Aganglio... |
OMIM:156810 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive prima... |
ORPHA:251274 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Anophthalmia, Tetralogy of Fallot, Hyp... |
OMIM:601186 |
Fibular Hemimelia |
|
Spina bifida, Anophthalmia, Abnormal heart morphology |
ORPHA:93323 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Aniridia, Anophthalmia, Umbilical hernia |
ORPHA:1101 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hypoplastic spleen, Proteinuria, Pan... |
ORPHA:699 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Micropenis, Severe B lymphocytopenia, B lymphocy... |
ORPHA:83617 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Delayed eruption of primary teeth, Anophthalmia |
ORPHA:90322 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anophthalmia, Microphthalmia |
ORPHA:77298 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... |
ORPHA:99889 |
Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Arrhinencephaly, Microphthalmia, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... |
ORPHA:95699 |
Cushing Disease |
|
Amenorrhea, Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdominal... |
ORPHA:96253 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin, Hyperaldosteronism |
ORPHA:369929 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Asplenia, Micropenis |
OMIM:602361 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma |
ORPHA:2260 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, ... |
OMIM:248370 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Anophthalmia, Arrhinencephaly, Congenital muscular torticollis, Microphthal... |
ORPHA:2538 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Walker-Warburg Syndrome |
|
Optic atrophy, Anophthalmia, Microphthalmia |
ORPHA:899 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Bloom Syndrome |
|
Abdominal obesity, Abnormal proportion of CD8-positive T cells, Recurrent tonsillitis, Small for ... |
ORPHA:125 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Meckel Syndrome |
|
Anencephaly, Anophthalmia, Situs inversus totalis, Optic atrophy, Microphthalmia, Encephalocele, ... |
ORPHA:564 |
Atypical Werner Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Ovarian neoplasm, Hyperinsulinemia, Decreased body ... |
ORPHA:79474 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Delayed p... |
OMIM:616263 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, C... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, C... |
ORPHA:352665 |
Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Encephalocele, Anophthalmia |
OMIM:605627 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Ovotestis, Hypospadias, Adrenal gland agenesis |
OMIM:611812 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Optic atrophy, Abnormality of peripheral nerve... |
ORPHA:90321 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Persistence of primar... |
OMIM:300166 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomega... |
OMIM:557000 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
Aarskog-Scott Syndrome |
|
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... |
OMIM:305400 |
Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Failure to thrive, Small for gestational age, Polyuria, Impaired glucose tol... |
OMIM:606721 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Breast aplasia |
ORPHA:90153 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Graves disease, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Branchial fistula, Ventricular septal defect, Intrauterine growth retardati... |
ORPHA:261330 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Branchial fistula, Optic disc coloboma, Ventricular septal defect, Pate... |
ORPHA:261337 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microp... |
OMIM:206900 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Delayed puberty |
ORPHA:90154 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... |
ORPHA:99413 |
Turner Syndrome |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... |
ORPHA:99228 |
Monosomy X |
|
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Second... |
ORPHA:99226 |
Familial Multiple Lipomatosis |
|
Insulin resistance |
ORPHA:199276 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Hypochromic microcytic anemia, Elevated hepatic iron concentration,... |
ORPHA:48818 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Delayed eruption of teeth, ... |
ORPHA:138 |
Charge Syndrome |
|
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Microphthalmi... |
OMIM:214800 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Enlarged kidney, Large for gesta... |
ORPHA:116 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Branchial fistula, Microphthalmia, Encephalocele |
ORPHA:861 |
Fraser Syndrome 1 |
|
Myelomeningocele, Anophthalmia, Bilateral microphthalmos, Encephalocele, Abnormal heart morphology |
OMIM:219000 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Abnormality of the thyroid gland, Prostatitis, Eosino... |
ORPHA:449432 |
Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Decreased fertility in m... |
ORPHA:64 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, A... |
OMIM:273395 |
Focal Dermal Hypoplasia |
|
Myelomeningocele, Anophthalmia, Delayed eruption of teeth, Spina bifida occulta, Optic atrophy, U... |
OMIM:305600 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Anophthalmia, Mitral valve prolapse... |
ORPHA:2556 |
Branchiooculofacial Syndrome |
|
Short neck, Anophthalmia, Branchial anomaly, Microphthalmia, Facial palsy, Intrauterine growth re... |
OMIM:113620 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Atrial septal defect, Anophthalmia, Microphthalmia |
ORPHA:2526 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... |
OMIM:200995 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pelvic kidney, Neutropenia, Micropenis, Anemia, Hypergonadotropic hypogonadism,... |
OMIM:227646 |
Fraser Syndrome |
|
Myelomeningocele, Anophthalmia, Umbilical hernia, Microphthalmia, Encephalocele |
ORPHA:2052 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Failure of eruption of permanent teeth |
ORPHA:2250 |
Shwachman-Diamond Syndrome 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Norm... |
OMIM:617941 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Arrhinencephaly, True anophthalmia, Microphthalmia |
ORPHA:1106 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Megaloblastic anemia, Testicular atrophy, Hyperuricosuria |
OMIM:300322 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ambiguous genitalia, Failure to thrive |
OMIM:615503 |
Distal Monosomy 12Q |
|
Annular pancreas, Pituitary adenoma, Micropenis, Biliary atresia, Maturity-onset diabetes of the ... |
ORPHA:96149 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Adrenal gland dysgenesis... |
OMIM:236680 |
Feingold Syndrome |
|
Annular pancreas, Abnormality of the spleen |
ORPHA:1305 |
Proboscis Lateralis |
|
Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Ventricular septal defect, Patent duct... |
ORPHA:141099 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Craniofacial Microsomia |
|
Anophthalmia, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Branchial... |
OMIM:164210 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Delayed menarche, Pubertal developmental failure in females, Decreased ... |
ORPHA:740 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Polycystic liver disease, Pancreatic fibrosis, Renal cyst, Hep... |
OMIM:208500 |
Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Hyperinsulinemic hypoglycemia, Leukocytosis, Recurrent tons... |
ORPHA:2968 |
Pmm2-Cdg |
|
Failure to thrive, Elevated circulating growth hormone concentration, Hyperinsulinemia, Nephrotic... |
ORPHA:79318 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610829 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Absent gallbladder, Hydronephrosis, Asplenia |
ORPHA:210122 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Optic nerve hypoplasia, Short neck, Spina bifida occulta, Ventricu... |
ORPHA:508488 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Yellow Fever |
|
Neutrophilia, Leukocytosis, Pancreatic hyperplasia, Acute pancreatitis, Renal insufficiency, Acut... |
ORPHA:99829 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Microphthalmia |
OMIM:613406 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Ectopic kidney, Cryptorchidism |
ORPHA:3063 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Congenital hypothyroidism, Adrenal hyperplasia... |
ORPHA:79500 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microphthalmia |
OMIM:607932 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Anophthalmia, Optic disc coloboma, Microphthalmia, Webbed neck, Aganglioni... |
OMIM:309800 |
Saethre-Chotzen Syndrome |
|
Clinodactyly of the 5th finger, Absent first metatarsal, Partial duplication of the distal phalan... |
OMIM:101400 |