Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
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Osteopenia, Cryptorchidism, Osteoporosis, Small pituitary gland, Decreased testicular size |
OMIM:614880 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Limb joint contracture, Central adrenal i... |
OMIM:612079 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... |
OMIM:601820 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... |
ORPHA:90673 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentratio... |
OMIM:219080 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612702 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased body weight, Increase... |
OMIM:615830 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... |
OMIM:210740 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism... |
ORPHA:398079 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism, Thenar muscl... |
ORPHA:2232 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Prader-Willi Syndrome |
|
Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ... |
ORPHA:739 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Osteopor... |
ORPHA:398069 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... |
ORPHA:95716 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Rhabdomyolysis, Goiter |
OMIM:188580 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Osteolysis,... |
ORPHA:163634 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyroid nodule, Goiter |
OMIM:180295 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Septooptic Dysplasia |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:182230 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... |
ORPHA:324575 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity |
OMIM:618406 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... |
ORPHA:226313 |
Thyroid Hypoplasia |
|
Macroglossia, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:98754 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus |
OMIM:610947 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:98793 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:177901 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Goiter |
OMIM:274240 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... |
OMIM:609152 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... |
OMIM:619476 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Glutaric Aciduria Iii |
|
Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Abnormality of the musculature of the limbs |
ORPHA:3327 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, Nodular goiter, G... |
ORPHA:142 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty |
OMIM:616033 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of secondary se... |
ORPHA:785 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity |
OMIM:620195 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Elevated circulating calcitonin conce... |
ORPHA:1332 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Abnormality of the hyp... |
ORPHA:3157 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... |
OMIM:615849 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Craniosynostosis, Cryptorchidism, Small pituitary gland, Slende... |
ORPHA:93932 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... |
ORPHA:90791 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Type I ... |
ORPHA:276575 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ... |
OMIM:618187 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Calf muscle hyp... |
ORPHA:280356 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased muscle mass, Elevated circulating luteinizing hormone level, Decreased circulating foll... |
OMIM:229070 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries |
ORPHA:79084 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Osteomalacia, Primary hypercort... |
ORPHA:562 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia |
ORPHA:2126 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... |
ORPHA:79644 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density |
OMIM:619489 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Adrenal hypoplasia, Flexion contracture, Epiphyseal stippling, Stillbirth, Thyroid hypoplasia |
OMIM:308050 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Camptodactyly of finger, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, F... |
ORPHA:3047 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... |
OMIM:616030 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost... |
ORPHA:371428 |
Tenorio Syndrome |
|
Osteopenia, Macroglossia, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... |
ORPHA:3085 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle f... |
ORPHA:254892 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Pediatric-Onset Graves Disease |
|
Craniosynostosis, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased ci... |
ORPHA:525731 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... |
OMIM:613457 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decre... |
OMIM:614837 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Abnormality of bone ... |
ORPHA:861 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Bone cyst, Hyperinsulinemia... |
ORPHA:528 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Abnormality of t... |
ORPHA:209905 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia |
ORPHA:1827 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Small pituitary gland |
OMIM:619479 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pol... |
OMIM:604367 |
Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:619004 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... |
ORPHA:2166 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-... |
ORPHA:263455 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... |
OMIM:614897 |
Giant Axonal Neuropathy |
|
Abnormality of the Achilles tendon, Limb muscle weakness, Abnormal pituitary gland morphology, Fa... |
ORPHA:643 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615109 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased c... |
OMIM:219090 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Adrenal hypoplasia, Large for gestational age, Precocious puberty, Cryptorchi... |
ORPHA:672 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Prolactinoma |
|
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo... |
ORPHA:2965 |
Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... |
ORPHA:79237 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Facial palsy, Congenital hypothyroidism, Hydrocele testis, ... |
OMIM:620186 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Myopathy, Pheochromocytoma, Elevated circulating calcitonin concent... |
OMIM:162300 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cel... |
OMIM:246200 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Centrally nucleated skeletal muscle fibers, Insulin resistance, Flexion contracture, ... |
OMIM:613327 |
Perlman Syndrome |
|
Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Macroglossia, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Knee flexion contractur... |
OMIM:151050 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypothalamu... |
ORPHA:264200 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Small for gestational age, Anterior pituitary hypoplasia, Cryptorchi... |
ORPHA:464306 |
Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:611812 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Decreased response to growth hormone stimulation test, Cryptorchidism, Flexion c... |
OMIM:619503 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Mandibuloacral Dysplasia |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Contractures of the la... |
ORPHA:2457 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Glucose intolerance, ... |
OMIM:608612 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Camptodactyly of finger, Flexion contracture, Osteopor... |
ORPHA:3206 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsu... |
ORPHA:79086 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Multinodular goiter, Ovarian neoplasm, Thyroid carcin... |
ORPHA:276399 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Bone... |
ORPHA:201 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth ho... |
OMIM:176270 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Flexion ... |
OMIM:248370 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... |
ORPHA:466791 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... |
ORPHA:769 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contracture, Obesity, A... |
OMIM:181450 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... |
ORPHA:3464 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d... |
ORPHA:79474 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... |
ORPHA:653 |
Branchiootorenal Syndrome 1 |
|
Euthyroid goiter, Facial palsy |
OMIM:113650 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Cryptorchidism, Aplasia of the right hemidiaphragm, Anterior pituitary hypoplasia, Limb hypertonia |
OMIM:619841 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Skeletal muscle hypert... |
OMIM:151660 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... |
ORPHA:71212 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Thyroid C cell hyperplasia |
OMIM:300952 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormality of masseter muscle, Abnormal pituitary gland morpho... |
ORPHA:314621 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Hydrolethalus Syndrome 1 |
|
Stillbirth, Agenesis of the diaphragm, Adrenal gland dysgenesis |
OMIM:236680 |
Leprechaunism |
|
Skeletal muscle atrophy, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyr... |
ORPHA:508 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of parotid gland, Abnor... |
ORPHA:79078 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuff... |
ORPHA:227982 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Thymoma, Anterior pitu... |
ORPHA:227990 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:273395 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cystic angiomatosis of bone, Diabetes mellitus, Decreased serum leptin, Generalized muscular appe... |
OMIM:608594 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Multinodular goiter, Embryonal rhabdomyosarcoma |
OMIM:620189 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... |
ORPHA:273 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Bile duct proliferation, Neonatal death, Failure to th... |
OMIM:619534 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cystic angiomatosis of bone, Decreased serum leptin, Generalized muscular appearance from birth, ... |
OMIM:269700 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Doors Syndrome |
|
Adrenal hyperplasia, Sagittal craniosynostosis, Congenital hypothyroidism |
ORPHA:79500 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99226 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated circulating grow... |
ORPHA:79318 |
Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |