Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... |
ORPHA:71529 |
Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, ... |
OMIM:612526 |
Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs |
OMIM:613073 |
Growth Hormone Insensitivity Syndrome |
|
Fine hair, Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failu... |
ORPHA:181393 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance |
ORPHA:140941 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71526 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Elevated circulating creatine kinase concentration, Abnormal circulating lipi... |
OMIM:615980 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Hirsutism, Decreased HDL cholest... |
OMIM:604367 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance, Multiple lipomas |
ORPHA:2398 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance |
OMIM:125853 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low anterior hairline, Insulin resis... |
ORPHA:528 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abn... |
ORPHA:71212 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... |
ORPHA:276580 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis |
ORPHA:2768 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight |
OMIM:613375 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche, Insulin resistance |
OMIM:614662 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... |
ORPHA:2348 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Generalized hyperpigmentation, Insulin resistance, Insulin-resistant diabetes melli... |
ORPHA:79086 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... |
OMIM:615381 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... |
ORPHA:276556 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal irregularity, Flattene... |
ORPHA:93356 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Generalized hirsutism, Insulin resistance |
ORPHA:79087 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:79083 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Splenomegaly, Lipoatrophy, Diabetes mellitus, Minimal s... |
ORPHA:280365 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... |
ORPHA:2502 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... |
ORPHA:90970 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Type II diabetes mellitus, Hypogonadism, Atypical scarring o... |
ORPHA:791 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... |
ORPHA:79237 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Small for gestational age, Insulin-resistant ... |
OMIM:262190 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hirsutism, Insulin resistance, Failure to thrive, Elevated circulating creatine kin... |
OMIM:613327 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogo... |
ORPHA:3085 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Overgrowth, Hyperlipidemia, Insulin resistance, Lipodystrophy |
ORPHA:199276 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circ... |
ORPHA:26793 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Abnormality of body weight, ... |
ORPHA:2298 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Dorsocervical fat pad, Increased circul... |
OMIM:615830 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Hirsutism, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced in... |
OMIM:608594 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hypertrichosis, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Preco... |
OMIM:246200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Hyperpigmentation of th... |
ORPHA:90154 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Perlman Syndrome |
|
Hepatomegaly, Tall stature, Inguinal hernia, Abnormal pancreas morphology, Hyperinsulinemia, Femo... |
ORPHA:2849 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Hirsutism, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced in... |
OMIM:269700 |
Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Hyperbilirubinemia,... |
OMIM:609734 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Alstrom Syndrome |
|
Pigmentary retinopathy, Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concent... |
OMIM:203800 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
OMIM:616222 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
Hyperostosis Frontalis Interna |
|
Obesity, Hypertrichosis, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Insulin-resistant diabetes m... |
ORPHA:769 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Short phalanx of finger, Short long bone, Flat acetabular ... |
OMIM:300106 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Low anterior hairline, Insulin resistance, Small for gestational age, Failure to th... |
ORPHA:73272 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hirsutism, Hype... |
ORPHA:189439 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Tall stature, Eunuchoid habitus, H... |
ORPHA:91 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
Short Syndrome |
|
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Alopecia, Diab... |
ORPHA:3163 |
Estrogen Resistance Syndrome |
|
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... |
ORPHA:785 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... |
OMIM:135750 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin resistance, Hyperpigmentation of the skin, Alopecia, Absent eyelashes, Ab... |
ORPHA:90153 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Hirsutism... |
ORPHA:90301 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypertrichosis, Hypokalemia, Insulin ... |
ORPHA:508 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hypo... |
OMIM:602579 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Thyroid carcinoma, Chondrocalcinosis, Type II diabetes melli... |
ORPHA:902 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... |
OMIM:602111 |
Morgagni-Stewart-Morel Syndrome |
|
Hirsutism, Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes mel... |
ORPHA:77296 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Overgrowth, Increased circulating gonadotropin level, Isose... |
ORPHA:759 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Grant Syndrome |
|
Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity, Sparse body hair |
ORPHA:85274 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the ulna, Rudimenta... |
OMIM:249700 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty |
ORPHA:254531 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism,... |
ORPHA:79319 |
Growth Factors, Combined Defect Of |
|
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion ... |
OMIM:233805 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Metaphyseal cupping, Irregular tarsal bones, Talipes equinovarus, Short finger, Flared iliac wing... |
OMIM:250220 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:618620 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Impaire... |
OMIM:614450 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Alopecia, Delayed puberty, Dec... |
ORPHA:3464 |
Atypical Werner Syndrome |
|
Abnormal hair morphology, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, White fo... |
ORPHA:79474 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... |
OMIM:600785 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
Blue Diaper Syndrome |
|
Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro... |
ORPHA:94086 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, ... |
ORPHA:69663 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Diabetes mellitus,... |
OMIM:616541 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Failure to thrive, Diabetes mellitus, Aplasia/Hypoplasia of the thymus... |
ORPHA:100 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... |
OMIM:250215 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Iris hypopigmentation, Premature graying of hair |
ORPHA:79476 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Congenital hypothyroidism, Diabetes mellitus, Obesity, Fair hair, Red hair |
OMIM:614613 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Insulin resistance, Premature adrenarche, Recurrent hypog... |
ORPHA:813 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol concentration, ... |
OMIM:618156 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Generalized hypop... |
OMIM:176270 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Type II diabetes mellitus, Hypercholesterolemia, Thick hair, Overweight |
ORPHA:401923 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Bardet-Biedl Syndrome 1 |
|
Hirsutism, Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Nephrogenic diabe... |
OMIM:209900 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Hypopigmentation of the skin, Iris hypopigmentation, Obesity, Hypo... |
ORPHA:177910 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Partial albinism, Hyperlipidemia, Splenomegaly, Iris hypopigmentation, Hypopigmenta... |
ORPHA:79477 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
ORPHA:96184 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Few cafe-au-lait sp... |
ORPHA:254516 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance |
ORPHA:439167 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Hyponatremia, Generalized hyperpigmentation, Insulin resistance, Splenome... |
ORPHA:3452 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Failure to t... |
ORPHA:264580 |
Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Insu... |
ORPHA:358 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... |
ORPHA:33445 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... |
ORPHA:230 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Mehmo Syndrome |
|
Obesity, Diabetes mellitus |
ORPHA:85282 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphysis, Long fibula, Rhizomelic arm shortening, Iliac crest serration, Short metac... |
ORPHA:93317 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
Bloom Syndrome |
|
Sparse eyelashes, Small for gestational age, Insulin resistance, Adipose tissue loss, Hypopigment... |
ORPHA:125 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Monosomy 13Q34 |
|
Insulin resistance, Horizontal eyebrow, Hepatic steatosis, Infantile hypercalcemia, Obesity |
ORPHA:96168 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weig... |
OMIM:182290 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Decreased serum iron, Overweight, Diabetes mellitus, Hypothyroidism, Flexion c... |
ORPHA:391372 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... |
OMIM:610489 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Abnormality of the hypothalamus-pituitary axis, Absent facial hair, Hypergonadotropic hy... |
ORPHA:2183 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Decreased r... |
OMIM:614963 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Triangular shaped distal phalanges of the hand, Abnormal calcification of the carpal bones, Metat... |
OMIM:271665 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... |
ORPHA:79240 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Obesity, Biliary tract abnor... |
ORPHA:3191 |
Congenital Analbuminemia |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, ... |
ORPHA:86816 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Achi... |
ORPHA:98855 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... |
ORPHA:2234 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Cortisone Reductase Deficiency 1 |
|
Hirsutism, Precocious puberty, Obesity |
OMIM:604931 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus |
OMIM:610628 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal irregularity, Long fibula, Narrow iliac wing, F... |
OMIM:610442 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Obesity, ... |
OMIM:603233 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hashimoto thyroiditis, Hyperlipidemia, Atypical scarring of skin, Hyperconvex fingernails, Hypopl... |
ORPHA:99413 |
Turner Syndrome |
|
Hashimoto thyroiditis, Hyperlipidemia, Atypical scarring of skin, Hyperconvex fingernails, Hypopl... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hashimoto thyroiditis, Hyperlipidemia, Atypical scarring of skin, Hyperconvex fingernails, Hypopl... |
ORPHA:99228 |
Monosomy X |
|
Hashimoto thyroiditis, Hyperlipidemia, Atypical scarring of skin, Hyperconvex fingernails, Hypopl... |
ORPHA:99226 |
Sheehan Syndrome |
|
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decr... |
ORPHA:91355 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Large for gestational age |
OMIM:248100 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus |
ORPHA:2377 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Low posterior hairline, Obesity, Abnormal hair quantity |
ORPHA:2233 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Achi... |
ORPHA:98863 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... |
ORPHA:226313 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Achi... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Achi... |
ORPHA:261 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:98754 |
Cushing Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Hirsutism, Increased circulating cortisol ... |
ORPHA:96253 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:98793 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin, Increased body weight, Jaundice |
ORPHA:890 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:177904 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:177901 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Premature... |
ORPHA:96182 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... |
ORPHA:895 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Early balding, Alopecia,... |
ORPHA:273 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Premature adrenarche, Hypog... |
ORPHA:398079 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Generalized hirsutism, Hyp... |
ORPHA:254346 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hirsutism, Hypokalemia, Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Abdom... |
OMIM:219090 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... |
ORPHA:398073 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating free T3, Thyroid hypoplasia, Abnormal circulating thyroglobulin level, Pitu... |
ORPHA:99832 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Enamel hypopla... |
OMIM:612462 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypouricemia, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Long fibula, Abnormality of the metaphysis |
ORPHA:935 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Hirsutism, Frontal balding, Thick eyebrow, High anterior hair... |
ORPHA:247768 |
Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Thyroid carcinoma, Hirsutism, Freckling, Pituitary adenoma, Profu... |
OMIM:160980 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Large for gestational age, Curly hair, Umbilical hernia, Cafe-au-lait spot |
OMIM:616638 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Hirsutism, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Ne... |
ORPHA:99889 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Enamel hypopla... |
OMIM:103580 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Flared metaphysis... |
OMIM:211350 |
Gaisböck Syndrome |
|
Hyperproteinemia, Cholecystitis, Obesity, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus,... |
ORPHA:90041 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Xerostomia, Absence of pube... |
ORPHA:398069 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Blue irides, Congenital hypothyroidism, Hypogonad... |
ORPHA:280651 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Alopecia, Neoplasm of the thyroid gland, Hyperthyroidism, Abnormal calcium-phosphate regu... |
ORPHA:457059 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Failure to thrive, Premature adrenarche, X... |
ORPHA:739 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Spotty hypopigmentation, Hirsutism, Nail dystrophy, Abnormal hair whorl, Low posterior hairline, ... |
OMIM:300860 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Bone spicule pigmentation of the retina, Truncal obesity |
OMIM:615986 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Femoral bowing, Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia |
ORPHA:85165 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Hypopigmentation of hair |
ORPHA:70472 |
Hutchinson-Gilford Progeria Syndrome |
|
Patchy alopecia, Dystrophic fingernails, Insulin resistance, Dystrophic toenail, Absence of subcu... |
ORPHA:740 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair |
ORPHA:2221 |
Bachmann-Bupp Syndrome |
|
Small nail, Sparse eyelashes, Hypoglycemia, Absent eyebrow, Hyperbilirubinemia, Large for gestati... |
OMIM:619075 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absen... |
ORPHA:2235 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Alström Syndrome |
|
Hirsutism, Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating horm... |
ORPHA:64 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Brittle Cornea Syndrome 1 |
|
Disproportionate tall stature, Atypical scarring of skin, Dentinogenesis imperfecta, Red hair |
OMIM:229200 |
Syndromic Diarrhea |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Small for gestational age, Hypop... |
ORPHA:84064 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic ... |
ORPHA:226307 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Tenorio Syndrome |
|
Hypertrichosis, Hypoinsulinemia, Hypoglycemia, Thick eyebrow |
OMIM:616260 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Failure to thrive in infancy, Hyponatremia, Retinal pigment epithelial mottling, Gl... |
OMIM:219800 |
Carney Complex |
|
Thyroid carcinoma, Hirsutism, Increased circulating cortisol level, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... |
ORPHA:905 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Hypoplasia of the ovary, Decreased serum estradiol, Increased circ... |
OMIM:615300 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Weight loss,... |
ORPHA:79102 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411511 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormality of retinal pigmentation, Hypoproteinemia, Hypopigmentation of the skin,... |
ORPHA:167 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Menkes Disease |
|
Chondrocalcinosis, Hypoglycemia, Hypopigmentation of hair, Hernia, Inguinal hernia, Atypical scar... |
ORPHA:565 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypothalamic hypothyroidism, Obes... |
ORPHA:2495 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity, Male hypogonadism, Pancreatitis |
OMIM:619471 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Hyponatremia, Hyperlipidemia, Hyperglycemia, Premature adrenarche, Abnorm... |
ORPHA:293987 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Xerostomia, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexi... |
ORPHA:238468 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... |
ORPHA:3440 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Hepatomegaly, Arthrogryposis multiplex congenita, Abnormal eyebrow mo... |
ORPHA:163746 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Hypothyroidism, Abnormality of hair ... |
ORPHA:96169 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... |
ORPHA:79434 |
Craniopharyngioma |
|
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... |
ORPHA:54595 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98794 |
Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79444 |
Muenke Syndrome |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule |
ORPHA:53271 |
Pmm2-Cdg |
|
Hepatic fibrosis, Insulin resistance, Failure to thrive, Hypogonadotropic hypogonadism, Lipodystr... |
ORPHA:79318 |
Vici Syndrome |
|
Ocular albinism, Failure to thrive, Hypopigmentation of the skin, Albinism, Abnormality of the th... |
OMIM:242840 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Brittle Cornea Syndrome |
|
Corneal scarring, Abnormality of hair pigmentation, Hernia, Camptodactyly |
ORPHA:90354 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Obesity, Dentinogenesis imperfecta, Type I diabetes mellitus, Precocious puberty |
OMIM:619269 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Splenomegaly, Iris... |
OMIM:214500 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:98795 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hypoglycemia, Hepatomegaly, Umb... |
ORPHA:116 |
Hermansky-Pudlak Syndrome |
|
Partial albinism, Ocular albinism, Weight loss, Abnormal dental enamel morphology, Long eyelashes... |
ORPHA:79430 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... |
ORPHA:3214 |
Prader-Willi Syndrome Due To Translocation |
|
Stellate iris, Hypogonadotropic hypogonadism, Hyperpigmentation of the skin, Hypopigmentation of ... |
ORPHA:177907 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hyperpigmentation, Failure to thrive, Nail dystrophy, Generalized hypopigmentation of... |
ORPHA:3322 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Hypopigmentation of hair, Inguinal hernia, Ocular albinism |
ORPHA:2719 |
Degcags Syndrome |
|
Hepatomegaly, Hypertrichosis, Low anterior hairline, Small for gestational age, Abnormality of sk... |
OMIM:619488 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Digeorge Syndrome |
|
Parathyroid agenesis, Inguinal hernia, Cholelithiasis, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Nail dystrophy, Peritonitis |
ORPHA:2968 |
Ulnar-Mammary Syndrome |
|
Hypoplastic nipples, Axillary apocrine gland hypoplasia, Sparse lateral eyebrow, Obesity, Delayed... |
OMIM:181450 |
Smith-Lemli-Opitz Syndrome |
|
Abnormality of the gallbladder, Elevated 7-dehydrocholesterol, Congenital diaphragmatic hernia, A... |
ORPHA:818 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |