| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy... |
OMIM:609698 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... |
OMIM:615999 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi... |
OMIM:620198 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
OMIM:262710 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism |
OMIM:300123 |
| Thyroid Dyshormonogenesis 6 |
|
Congenital hypothyroidism, Hypothyroidism |
OMIM:607200 |
| Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell... |
OMIM:601820 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism |
OMIM:262700 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... |
OMIM:274300 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... |
OMIM:176400 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... |
OMIM:301035 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity |
ORPHA:293964 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:171706 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Hy... |
ORPHA:99886 |
| Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... |
OMIM:619326 |
| Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
| Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... |
OMIM:618157 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... |
ORPHA:71526 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoinsulinemia, Large for gestational age, Obesity, Truncal obesity |
OMIM:240900 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Wolfram-Like Syndrome |
|
Male hypogonadism, Central diabetes insipidus, Hypothyroidism, Delayed puberty, Primary gonadal i... |
ORPHA:411590 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... |
OMIM:225250 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration |
OMIM:603373 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:88643 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal hypoplasia |
OMIM:202150 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... |
OMIM:614450 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... |
ORPHA:3363 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Obesity, Hyperinsulinemia |
OMIM:618406 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... |
OMIM:613038 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... |
OMIM:610755 |
| Joubert Syndrome 26 |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism |
OMIM:616784 |
| Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... |
ORPHA:453533 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... |
OMIM:620651 |
| Pituitary Carcinoma |
|
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... |
ORPHA:300385 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Hypothyroidism, Elevat... |
OMIM:612885 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Hypothyroidism, Decreased thyroid-stimulating hormone level |
OMIM:275100 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... |
OMIM:616030 |
| Obesity And Hypopigmentation |
|
Overgrowth, Obesity, Hyperinsulinemia |
OMIM:620195 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... |
OMIM:614662 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... |
OMIM:613239 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... |
OMIM:613986 |
| Hawkinsinuria |
|
Hypothyroidism, Failure to thrive |
ORPHA:2118 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:614839 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Obesity, Childhood-onset truncal obesity, Hyperinsulinemia |
ORPHA:71529 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperinsulinemia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:620211 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat... |
OMIM:614842 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus |
OMIM:608320 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Abnormality of thyroid physiology, Cryptorchidism, Testicular dysgenesis |
OMIM:615542 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC... |
OMIM:614736 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... |
OMIM:609734 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ... |
ORPHA:95496 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| Bamforth-Lazarus Syndrome |
|
Congenital hypothyroidism, Thyroid agenesis |
OMIM:241850 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... |
OMIM:173100 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal hypothalamus morphology,... |
OMIM:614963 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Obesity, Decreased serum leptin |
OMIM:614962 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... |
OMIM:308750 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... |
OMIM:618160 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity, Cryptorchidism |
ORPHA:85274 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:600955 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... |
OMIM:614897 |
| Bamforth-Lazarus Syndrome |
|
Congenital hypothyroidism, Thyroid agenesis |
ORPHA:1226 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
| Thyroid Lymphoma |
|
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter |
ORPHA:97285 |
| 14Q11.2 Microduplication Syndrome |
|
Obesity, Hypothyroidism |
ORPHA:261229 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased serum testosterone concentration, Decreased testicular size, Cryptorchidi... |
OMIM:300869 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism, Failure to thrive |
ORPHA:96183 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:603233 |
| Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism |
OMIM:618625 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Elevated circulating luteinizing hormone level, Decrease... |
OMIM:229070 |
| Athyreosis |
|
Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... |
ORPHA:79644 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4... |
OMIM:275000 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, D... |
ORPHA:77296 |
| Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsulinemic hypo... |
ORPHA:276608 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Decreased testicular size, Hypothalamic gonadotropin-... |
OMIM:308700 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp... |
OMIM:616113 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Th... |
ORPHA:64744 |
| Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased circulating T4 concentration, Abnormality of thyroid physiology, Decreased thyroid-stim... |
ORPHA:95715 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:90673 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
OMIM:102200 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Galloway-Mowat Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight |
OMIM:618347 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
ORPHA:226313 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev... |
OMIM:609152 |
| Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... |
ORPHA:231720 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Absence of pubertal development, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:614837 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Blue Diaper Syndrome |
|
Increased body weight, Decreased circulating T4 concentration, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
| Pendred Syndrome |
|
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism |
ORPHA:2349 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Hypothyroidism, Cryptorchidism |
ORPHA:752 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... |
ORPHA:91349 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... |
OMIM:174800 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:352530 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... |
OMIM:103580 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism |
OMIM:619908 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... |
OMIM:615841 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Foxp1 Syndrome |
|
Hypothyroidism, Overweight, Diabetes mellitus, Failure to thrive |
ORPHA:391372 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism, Cryptorchidism |
OMIM:613970 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
| Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... |
ORPHA:97289 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
| Stiff Person Spectrum Disorder |
|
Hypothyroidism, Diabetes mellitus, Hyperhidrosis |
ORPHA:3198 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... |
ORPHA:3143 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Obesity, Hyperinsulinemia |
OMIM:617885 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... |
ORPHA:226307 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:369873 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism |
OMIM:619851 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:424 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism |
ORPHA:589618 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Failure to thrive, Goiter |
OMIM:231690 |
| Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... |
ORPHA:276575 |
| Li-Campeau Syndrome |
|
Hypothyroidism, Cryptorchidism |
OMIM:619189 |
| Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:99819 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... |
OMIM:221750 |
| Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism |
OMIM:619013 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Hypothyroidism, Failure to thrive, Cryptorchidism |
OMIM:608104 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Congenital hypothyroidism, Obesity, Diabetes mellitus, Cryptorchidism |
OMIM:614613 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... |
ORPHA:276580 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Male hypogonadism, Type I diabetes mellitus, Cholelithiasis, Adrenal insufficiency, Primary adren... |
OMIM:240300 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:2994 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hypothyroidism, Goiter |
ORPHA:83601 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Small for gestational age, Failure to thrive |
OMIM:610883 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Failure to thrive |
OMIM:618999 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:98754 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity, Cryptorchidism |
OMIM:615982 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hypogonadotr... |
OMIM:610628 |
| Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism |
ORPHA:48377 |
| Adiposis Dolorosa |
|
Obesity, Hypothyroidism, Xerostomia |
ORPHA:36397 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland, Type II diabe... |
ORPHA:2234 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism |
ORPHA:2491 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Excessive insulin response to gl... |
ORPHA:324575 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:98793 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
| Chromosome 1P35 Deletion Syndrome |
|
Congenital hypothyroidism, Cryptorchidism |
OMIM:617930 |
| Chromosome 2Q37 Deletion Syndrome |
|
Obesity, Hypothyroidism |
OMIM:600430 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:177904 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypothyroidism, Delayed puberty, Small for gestational age, Cryptorchidism |
OMIM:616817 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:177901 |
| Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
ORPHA:324737 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... |
OMIM:218700 |
| Mody |
|
Abnormal circulating insulin concentration, Pancreatic hypoplasia, Insulin-resistant diabetes mel... |
ORPHA:552 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, ... |
ORPHA:3085 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f... |
ORPHA:67045 |
| Morbid Obesity And Spermatogenic Failure |
|
Obesity, Type II diabetes mellitus |
OMIM:615703 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... |
ORPHA:254516 |
| Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... |
OMIM:615830 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Xerostomia, Failure to thrive, C... |
ORPHA:398079 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Decreased body weight |
OMIM:607906 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Large for gestational age, Excessive insulin response to gl... |
ORPHA:276556 |
| Ddost-Cdg |
|
Failure to thrive, Primary hypothyroidism |
ORPHA:300536 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Overweight, Small for gestational age |
OMIM:617796 |
| Cowden Syndrome 5 |
|
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... |
OMIM:615108 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... |
OMIM:610978 |
| Atelis Syndrome 1 |
|
Hypothyroidism |
OMIM:620184 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Decreased body weight, Hypothyroidism, Delayed puberty, Diabetes mellitus, Small for gestational age |
ORPHA:391408 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Decreased circulating luteinizing... |
OMIM:619761 |
| Methimazole Embryofetopathy |
|
Hypothyroidism, Abnormality of the thyroid gland |
ORPHA:1923 |
| Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypohid... |
ORPHA:363528 |
| Cystinosis |
|
Type I diabetes mellitus, Failure to thrive, Hypothyroidism, Delayed puberty, Nephrogenic diabete... |
ORPHA:213 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
| Lig4 Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, Small for gestation... |
OMIM:606593 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
| 4H Leukodystrophy |
|
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Abnormality... |
ORPHA:289494 |
| B4Galt1-Cdg |
|
Hypothyroidism, Small for gestational age |
ORPHA:79332 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Abnormal testis morphology |
ORPHA:2233 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot... |
ORPHA:2905 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... |
OMIM:615300 |
| Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Small for gestational age |
OMIM:256300 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
| Multifocal Atrial Tachycardia |
|
Hypothyroidism, Cryptorchidism |
ORPHA:3282 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypohidrosis |
ORPHA:1563 |
| Cowden Syndrome 6 |
|
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... |
OMIM:615109 |
| Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Hypothyroidism, Small for gestational age |
ORPHA:69665 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Failur... |
OMIM:618922 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty |
OMIM:612079 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... |
ORPHA:91347 |
| Thyroid Ectopia |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... |
ORPHA:95712 |
| Meningioma |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... |
ORPHA:2495 |
| Omenn Syndrome |
|
Hypothyroidism, Failure to thrive, Thyroiditis |
ORPHA:39041 |
| Prolactinoma |
|
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... |
ORPHA:2965 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Hypothyroidism, Weight... |
ORPHA:465508 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Failure to thrive in infancy, Hypothyroidism |
OMIM:618829 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... |
ORPHA:412057 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty |
ORPHA:819 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight |
OMIM:609053 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Obesity, Hypothyroidism, Diabetes mellitus |
ORPHA:412 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism |
OMIM:601794 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism |
OMIM:612702 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Obesity, Hypothyroidism, Cryptorchidism |
ORPHA:254346 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Type I diabetes mellitus, Hypothyroidism |
OMIM:620430 |
| Reni Syndrome |
|
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Cryptorchidism |
OMIM:617575 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Small for gestational age, Cryptorchidism |
ORPHA:397590 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
| Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hypothyroidism |
ORPHA:254913 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi... |
ORPHA:1667 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hypothyroidism, Failure to thrive |
OMIM:304790 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Cryptorchidism |
ORPHA:363741 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Hypothyroidism, Diabetes mellitus |
ORPHA:98673 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism |
OMIM:619750 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Type I diabetes mellitus, Hypothyroidism, Delayed puberty |
OMIM:615952 |
| Cowden Syndrome 1 |
|
Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroidism, Hydroc... |
OMIM:158350 |
| Isolated Biliary Atresia |
|
Failure to thrive, Hypopituitarism, Atretic gallbladder, Severe failure to thrive, Hypothyroidism... |
ORPHA:30391 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... |
OMIM:269200 |
| Fucosidosis |
|
Hypothyroidism, Hyperhidrosis, Failure to thrive |
ORPHA:349 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Small for gestational age, Failure to thrive |
OMIM:619147 |
| Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body we... |
ORPHA:263455 |
| Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis |
ORPHA:300298 |
| Monosomy 18P |
|
Hypothyroidism |
ORPHA:1598 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
| Allan-Herndon-Dudley Syndrome |
|
Decreased body mass index, Failure to thrive in infancy, Abnormality of thyroid physiology, Crypt... |
ORPHA:59 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the pancreas, Hyperec... |
ORPHA:456312 |
| Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed pub... |
ORPHA:231226 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroiditis |
OMIM:613385 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Xerostomia, Failure to thrive, Central hypothyroidism,... |
ORPHA:398069 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism |
OMIM:617763 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:90695 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Obesi... |
OMIM:203800 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Central hypothyroidism, Failure to thrive, Primary hypothyroidism |
ORPHA:95427 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
OMIM:606367 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
| Timothy Syndrome |
|
Hypothyroidism |
OMIM:601005 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... |
OMIM:615926 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Delayed puberty |
OMIM:619234 |
| Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
| Pseudopseudohypoparathyroidism |
|
Obesity, Pseudohypoparathyroidism |
OMIM:612463 |
| Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
| Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Congenital hyp... |
ORPHA:209905 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Diabetes... |
ORPHA:231222 |
| Ring Chromosome 12 Syndrome |
|
Breast hypoplasia, Hypothyroidism, Small for gestational age, Cryptorchidism |
ORPHA:1439 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
| Lig4 Syndrome |
|
Hypothyroidism, Type II diabetes mellitus, Cryptorchidism |
ORPHA:99812 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypothyroidism, Diabetes mellitus, Hyperthyroidism |
ORPHA:449291 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:101800 |
| Oculoskeletodental Syndrome |
|
Hypothyroidism, Small for gestational age, Cryptorchidism |
OMIM:618440 |
| Seckel Syndrome 7 |
|
Central hypothyroidism |
OMIM:614851 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypothyroidism... |
ORPHA:769 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ... |
OMIM:619476 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro... |
ORPHA:293978 |
| Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
| Beta-Thalassemia Major |
|
Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed pub... |
ORPHA:231214 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Failure to thrive in infancy, Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
ORPHA:228426 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Failure to thrive, Thyroiditis |
OMIM:614700 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism, Cryptorchidism |
ORPHA:85321 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Central hypothyroidism |
ORPHA:514 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Diabetes mellitus, Cryptorchidism, Truncal obesity |
OMIM:616541 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Bilateral cryptorchidism |
ORPHA:96179 |
| Microform Holoprosencephaly |
|
Panhypopituitarism, Hypothyroidism, Maternal diabetes |
ORPHA:280200 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight, Cryptorchidism |
ORPHA:589905 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
| Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:293939 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Small for gestational age |
OMIM:614114 |
| Monosomy 18Q |
|
Secondary growth hormone deficiency, Failure to thrive, Bilateral cryptorchidism, Slender build, ... |
ORPHA:1600 |
| Hydatidiform Mole |
|
Hyperthyroidism |
ORPHA:99927 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Cryptorchidism, Hypohidrosis, Supernumerary nipple |
ORPHA:1812 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Failure to thrive |
OMIM:618005 |
| Septo-Optic Dysplasia Spectrum |
|
Obesity, Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes... |
ORPHA:3157 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Weight loss, Acute pancreatitis, Failure to thrive |
OMIM:619487 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hypothyroidism, Failure to thrive, Thyroiditis |
ORPHA:83471 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Type I diabetes mellitus, Failure to thrive in infancy, Cachexia, Hypothyroidism, Hyperthyroidism... |
ORPHA:37042 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Cryptorchidism |
OMIM:618183 |
| Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism |
OMIM:617713 |
| Pseudohypoparathyroidism Type 1B |
|
Decreased response to growth hormone stimulation test, Pituitary resistance to thyroid hormone, E... |
ORPHA:94089 |
| Cenani-Lenz Syndrome |
|
Hypothyroidism |
ORPHA:3258 |
| Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
| Whipple Disease |
|
Cachexia, Hypothyroidism |
ORPHA:3452 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Pancreatic... |
OMIM:616263 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism |
OMIM:226300 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ovarian serous cystadenoma, Bilateral cryptorchidism, Decreased serum testosterone concentration,... |
ORPHA:1772 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... |
ORPHA:562 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Increased circulating ACTH level, Obesity, Pituitary adenoma, Abdominal obesity |
OMIM:219090 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Posterior pituitary hypoplasia |
ORPHA:75389 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism |
ORPHA:445038 |
| Tbck-Related Intellectual Disability Syndrome |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Cryptorchid... |
ORPHA:488632 |
| Melas |
|
Type I diabetes mellitus, Failure to thrive, Type II diabetes mellitus, Hypogonadotropic hypogona... |
ORPHA:550 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... |
ORPHA:2298 |
| Smith-Magenis Syndrome |
|
Increased body weight, Abnormality of the thyroid gland |
OMIM:182290 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism |
ORPHA:2479 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Type II diabetes mellitus |
OMIM:618620 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Bilateral cryptorchidism |
ORPHA:66634 |
| Koolen-De Vries Syndrome |
|
Hypothyroidism, Cryptorchidism |
ORPHA:96169 |
| Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... |
ORPHA:733 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
| Alexander Disease |
|
Precocious puberty, Failure to thrive, Hypothyroidism, Hyperhidrosis, Diabetes mellitus |
ORPHA:58 |
| Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism, Cryptorchidism |
OMIM:603736 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Failure to thrive, Hypergonadotropic hypogonadism |
OMIM:212065 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Decre... |
ORPHA:2232 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Goiter, Hypothyroidism, Hyperthyroidism, Diabetes mellitus |
ORPHA:254892 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Pancreatic hypoplasia, Decreased ... |
OMIM:610199 |
| Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
ORPHA:1855 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... |
ORPHA:95494 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Premature thelarche, Hypothyroidism, Premature pubarche |
OMIM:616878 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple |
ORPHA:2519 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity, Streak ovary, Cryptorchidism |
OMIM:194072 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Decreased body weight, Recurrent pancreatitis,... |
OMIM:618268 |
| Mogs-Cdg |
|
Inappropriate antidiuretic hormone secretion, Hypothyroidism, Hydrocele testis |
ORPHA:79330 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
| Interstitial Lung And Liver Disease |
|
Hypothyroidism, Failure to thrive |
OMIM:615486 |
| Immunodeficiency 31C |
|
Hypothyroidism, Weight loss, Delayed puberty, Diabetes mellitus |
OMIM:614162 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Weight loss |
OMIM:613673 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Failure to thrive, Cryptorchidism, Thyroid agenesis, Hypothyroidism, Thyroid dysgenesis, Thyroid ... |
ORPHA:3047 |
| Thyrotoxic Periodic Paralysis |
|
Graves disease, Obesity, Weight loss, Hyperhidrosis, Hyperthyroidism, Thyrotoxicosis with diffuse... |
ORPHA:79102 |
| Martin-Probst Syndrome |
|
Hypoplastic nipples, Hypothyroidism, Cryptorchidism |
OMIM:300519 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hypothyroidism, ... |
ORPHA:93111 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
| Peripartum Cardiomyopathy |
|
Obesity, Abnormality of thyroid physiology, Diabetes mellitus |
ORPHA:563 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Obesity, Pancreatitis, Overweight, Diabetes mellitus |
ORPHA:69663 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypothyroidism, Failure to thrive, Cryptorchidism |
ORPHA:453499 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Decreased testicular size, Central hypothyroidism, Cryptorchidism, Bilateral cryptorchidism |
OMIM:300998 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Adrenal... |
ORPHA:699 |
| Pseudoxanthoma Elasticum |
|
Hypothyroidism |
ORPHA:758 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Decreased body weight |
ORPHA:314621 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Congenital hypothyroidism, Palmoplantar hyperhidrosis, Failure to thrive |
OMIM:617527 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Breast aplas... |
ORPHA:268261 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Pancreatitis, Small for gestational age, Failure to thrive |
ORPHA:1830 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Slender build, Primary... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Slender build, Primary... |
ORPHA:363958 |
| White-Kernohan Syndrome |
|
Obesity, Hypothyroidism |
OMIM:619426 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79444 |
| Retinitis Pigmentosa |
|
Hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Failure to thrive |
OMIM:300912 |
| Neuhauser Syndrome |
|
Primary hypothyroidism |
OMIM:249310 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Type I diabetes mellitus, Xerostomia, Graves disease, Anterior pituitary dysgenesis, Aut... |
ORPHA:227982 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Central hypothyroidism, Decreased circulating ACTH concentration, Cr... |
OMIM:620305 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Polycystic ovaries, Hypothyroidism, Pancreatitis, Delayed puberty, Thyroiditis |
ORPHA:79259 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Hypothyroidism, Adenoma sebaceum |
OMIM:191100 |
| Lymphatic Malformation 6 |
|
Hypothyroidism, Hydrocele testis |
OMIM:616843 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism |
OMIM:607944 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Congenital hypothyroidism, Thyroid hypoplasia |
ORPHA:521445 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Supernumerary nipple, Cryptorchidism, Overgrowth, Hypothyroidism, Hyperhidrosis |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Supernumerary nipple, Cryptorchidism, Overgrowth, Hypothyroidism, Hyperhidrosis |
ORPHA:352665 |
| Phace Association |
|
Congenital hypothyroidism, Lingual thyroid |
OMIM:606519 |
| Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
| Rothmund-Thomson Syndrome Type 1 |
|
Hypogonadism, Hypothyroidism, Small for gestational age, Cryptorchidism |
ORPHA:221008 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypothyroidism |
ORPHA:93256 |
| Abetalipoproteinemia |
|
Hypothyroidism, Failure to thrive |
ORPHA:14 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... |
ORPHA:249 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Hypothyroidism, Small for gestational age |
ORPHA:84064 |
| Beckwith-Wiedemann Syndrome |
|
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Tall stature, Adrenocortical cyt... |
ORPHA:116 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Failure to thrive, Pan... |
ORPHA:2255 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Hypothyroidism |
ORPHA:457212 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Failure to thrive, Obesity, Cryptorchidism, Hypoplasia of the thymus, Hypothyroid... |
ORPHA:567 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Hypothyroidism |
ORPHA:444077 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Compensated hypothyroidism |
ORPHA:247691 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Obesity, Ovarian cyst, Parathyroid agenesis, Hypoplasia o... |
OMIM:188400 |
| Myasthenia Gravis |
|
Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism |
ORPHA:589 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... |
OMIM:620186 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism |
ORPHA:480864 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79443 |
| Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Failure to thrive |
ORPHA:411634 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Hypothyroidism, Adenoma sebaceum |
OMIM:613254 |
| Aromatase Deficiency |
|
Tall stature, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Cryptorchidism, Enlarged pol... |
ORPHA:91 |
| Hallermann-Streiff Syndrome |
|
Hypothyroidism, Cryptorchidism |
ORPHA:2108 |
| Leprechaunism |
|
Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hyperinsulinemia, Decreased body w... |
ORPHA:508 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Increased circulating prolactin concentration |
OMIM:617675 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Weight loss |
OMIM:615846 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... |
ORPHA:99889 |
| Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Breast hypoplasia, Cryptorchidism, Hypothy... |
ORPHA:506358 |
| Isolated Exencephaly |
|
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia |
ORPHA:563612 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
| Wilson Disease |
|
Increased body weight, Weight loss, Failure to thrive |
ORPHA:905 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Hypothyroidism, Cryptorchidism |
OMIM:620005 |
| Bardet-Biedl Syndrome |
|
Hypogonadism, Decreased testicular size, Obesity, Type II diabetes mellitus, Cryptorchidism, Poly... |
ORPHA:110 |
| Semilobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93924 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Slender build, Cryptorchidism |
ORPHA:93932 |
| Bilateral Polymicrogyria |
|
Central hypothyroidism |
ORPHA:268940 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Hypothyroidism |
ORPHA:1052 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Increased circulating prolactin concentration |
ORPHA:502423 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypothyroidism |
ORPHA:1556 |
| Sotos Syndrome |
|
Increased body weight, Tall stature, Cryptorchidism, Overgrowth |
OMIM:117550 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| 1P36 Deletion Syndrome |
|
Annular pancreas, Failure to thrive, Hypogonadism, Obesity, Cryptorchidism, Hypothyroidism |
ORPHA:1606 |
| Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Hyperhidrosis, Hypohidrosis, Ectopic thyroid |
ORPHA:3206 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Failure to thrive, Failure to thrive in infancy, Exocrine pancreatic insuffici... |
OMIM:219800 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Hypothyroidism |
ORPHA:909 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Increased body weight, Delayed puberty, Failure to thrive, Polycystic ovaries |
ORPHA:264580 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Primary hypothyroidism, Delayed puberty, Abnormality of the endocrine s... |
ORPHA:391487 |
| Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of thyroid physiology, Unilateral breast hypoplasia |
OMIM:300968 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Congenital hypothyroidism, Failure to thrive |
OMIM:616973 |
| Alkaptonuria |
|
Prostatitis, Hypothyroidism, Black pigment gallstones |
ORPHA:56 |
| Aicardi-Goutières Syndrome |
|
Hypothyroidism, Diabetes mellitus |
ORPHA:51 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Hypothyroidism... |
ORPHA:438213 |
| Microphthalmia, Syndromic 6 |
|
Failure to thrive, Anterior hypopituitarism, Cryptorchidism, Hypothyroidism, Adrenal hypoplasia, ... |
OMIM:607932 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Type I diabetes mellitus, Xerostomia, Anterior pituitary dysgenesis, Central diabetes in... |
ORPHA:227990 |
| Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Hypothyroidism, Cryptorchidism, Decreased body weight |
OMIM:300166 |
| Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Failure to thrive |
ORPHA:411629 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... |
ORPHA:273 |
| Sarcoidosis |
|
Enlarged lacrimal glands, Parotitis, Enlargement of parotid gland, Abnormality of the adrenal gla... |
ORPHA:797 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism |
OMIM:271510 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Congenital hypothyroidism, Obesity, Hypothyroidism, Cryptorchidism |
OMIM:607872 |
| Down Syndrome |
|
Hypothyroidism |
OMIM:190685 |
| Coffin-Siris Syndrome 12 |
|
Hypothyroidism, Failure to thrive, Cryptorchidism |
OMIM:619325 |
| Williams Syndrome |
|
Precocious puberty, Cholelithiasis, Failure to thrive in infancy, Obesity, Type II diabetes melli... |
ORPHA:904 |
| Charge Syndrome |
|
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... |
OMIM:214800 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight, Polycystic ovaries |
ORPHA:79240 |
| Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatitis, Enlarge... |
ORPHA:449563 |
| Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Small for gestational age |
ORPHA:93357 |
| Schinzel-Giedion Syndrome |
|
Failure to thrive in infancy, Streak ovary, Central hypothyroidism, Annular pancreas |
ORPHA:798 |
| Igg4-Related Kidney Disease |
|
Sialadenitis, Prostatitis, Weight loss, Pancreatitis, Abnormality of the anterior pituitary, Thyr... |
ORPHA:449395 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Delayed puberty, Truncal obesity, Diabe... |
OMIM:259050 |
| Johanson-Blizzard Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cryptorchidism, Primary hypothyroidism, Hyp... |
OMIM:243800 |
| Williams-Beuren Syndrome |
|
Failure to thrive in infancy, Obesity, Early onset of sexual maturation, Hypothyroidism, Diabetes... |
OMIM:194050 |
| Townes-Brocks Syndrome |
|
Hypothyroidism, Delayed puberty, Failure to thrive, Cryptorchidism |
ORPHA:857 |
| Townes-Brocks Syndrome 1 |
|
Hypothyroidism, Small for gestational age, Cryptorchidism |
OMIM:107480 |
| Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Primary hypothyroidism |
ORPHA:96176 |
| Viss Syndrome |
|
Hypothyroidism, Failure to thrive |
OMIM:619472 |
| Peters Plus Syndrome |
|
Congenital hypothyroidism, Anterior hypopituitarism, Cryptorchidism |
ORPHA:709 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland |
OMIM:619479 |
| Genitopatellar Syndrome |
|
Hypothyroidism, Cryptorchidism |
OMIM:606170 |
| Sotos Syndrome |
|
Tall stature, Hypothyroidism, Cryptorchidism, Hydrocele testis |
ORPHA:821 |
| Doors Syndrome |
|
Congenital hypothyroidism, Adrenal hyperplasia |
ORPHA:79500 |
| Kabuki Syndrome 1 |
|
Premature thelarche, Congenital hypothyroidism, Cryptorchidism |
OMIM:147920 |
| Alström Syndrome |
|
Testicular fibrosis, Precocious puberty in females, Elevated circulating thyroid-stimulating horm... |
ORPHA:64 |
